Michael R. Hayden | Academic Influence

Michael R. Hayden's AcademicInfluence.com Rankings

Michael R. Hayden

Biology

#2283

World Rank

#3645

Historical Rank

Genetics

#189

World Rank

#232

Historical Rank

biology Degrees

Michael R. Hayden

Philosophy

#3374

World Rank

#5468

Historical Rank

Logic

#1121

World Rank

#1782

Historical Rank

philosophy Degrees

Download Badge

Biology
Philosophy

Michael R. Hayden's Degrees

Masters Medicine University of Cape Town
PhD Medical Genetics University of Cape Town

Why Is Michael R. Hayden Influential?

(Suggest an Edit or Addition)

According to Wikipedia, Michael R. Hayden, is a Killam Professor of Medical Genetics at the University of British Columbia, the highest honour UBC can confer on any faculty member. Only four such awards have ever been conferred in the Faculty of Medicine. Dr. Hayden is also Canada Research Chair in Human Genetics and Molecular Medicine. Hayden is best known for his research in Huntington disease .

(See a Problem?)

Michael R. Hayden's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency (1999) (1742)
Loss of Huntingtin-Mediated BDNF Gene Transcription in Huntington's Disease (2001) (1325)
The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease (1993) (1089)
Early mitochondrial calcium defects in Huntington's disease are a direct effect of polyglutamines (2002) (1008)
Mutations in HFE2 cause iron overload in chromosome 1q–linked juvenile hemochromatosis (2004) (958)
Huntingtin interacts with REST/NRSF to modulate the transcription of NRSE-controlled neuronal genes (2003) (910)
Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes (1995) (873)
A YAC Mouse Model for Huntington’s Disease with Full-Length Mutant Huntingtin, Cytoplasmic Toxicity, and Selective Striatal Neurodegeneration (1999) (862)
Selective striatal neuronal loss in a YAC128 mouse model of Huntington disease. (2003) (798)
A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length (2004) (745)
Detection of Huntington’s disease decades before diagnosis: the Predict-HD study (2007) (741)
Cleavage at the Caspase-6 Site Is Required for Neuronal Dysfunction and Degeneration Due to Mutant Huntingtin (2006) (683)
Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract (1996) (621)
Increased Sensitivity to N-Methyl-D-Aspartate Receptor-Mediated Excitotoxicity in a Mouse Model of Huntington's Disease (2002) (619)
Caspase Cleavage of Gene Products Associated with Triplet Expansion Disorders Generates Truncated Fragments Containing the Polyglutamine Tract* (1998) (608)
Huntington disease (2015) (580)
A novel pathogenic pathway of immune activation detectable before clinical onset in Huntington's disease (2008) (559)
Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats. (1996) (538)
Mutant Huntingtin Impairs Axonal Trafficking in Mammalian Neurons In Vivo and In Vitro (2004) (519)
Intestinal ABCA1 directly contributes to HDL biogenesis in vivo. (2006) (505)
Length of huntingtin and its polyglutamine tract influences localization and frequency of intracellular aggregates (1998) (493)
Targeted inactivation of hepatic Abca1 causes profound hypoalphalipoproteinemia and kidney hypercatabolism of apoA-I. (2005) (485)
A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2 (2001) (460)
Huntingtin and Huntingtin-Associated Protein 1 Influence Neuronal Calcium Signaling Mediated by Inositol-(1,4,5) Triphosphate Receptor Type 1 (2003) (455)
Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy (2002) (453)
Wild-Type Huntingtin Protects from Apoptosis Upstream of Caspase-3 (2000) (434)
Differential modulation of endotoxin responsiveness by human caspase-12 polymorphisms (2004) (431)
The Psychological Consequences of Predictive Testing for Huntington’s Disease (1992) (430)
Balance between synaptic versus extrasynaptic NMDA receptor activity influences inclusions and neurotoxicity of mutant huntingtin (2009) (425)
β-cell ABCA1 influences insulin secretion, glucose homeostasis and response to thiazolidinedione treatment (2007) (403)
The likelihood of being affected with Huntington disease by a particular age, for a specific CAG size. (1997) (403)
Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm (1994) (399)
HIP1, a human homologue of S. cerevisiae Sla2p, interacts with membrane-associated huntingtin in the brain (1997) (394)
Caspase Cleavage of Mutant Huntingtin Precedes Neurodegeneration in Huntington's Disease (2002) (388)
Inhibiting Caspase Cleavage of Huntingtin Reduces Toxicity and Aggregate Formation in Neuronal and Nonneuronal Cells* (2000) (387)
Early Increase in Extrasynaptic NMDA Receptor Signaling and Expression Contributes to Phenotype Onset in Huntington's Disease Mice (2010) (386)
Huntingtin Is Ubiquitinated and Interacts with a Specific Ubiquitin-conjugating Enzyme* (1996) (373)
IKK phosphorylates Huntingtin and targets it for degradation by the proteasome and lysosome (2009) (369)
Mutations in the ABC 1 gene in familial HDL deficiency with defective cholesterol efflux (1999) (366)
Disturbed Ca2+ signaling and apoptosis of medium spiny neurons in Huntington's disease. (2005) (359)
Relationship between stearoyl-CoA desaturase activity and plasma triglycerides in human and mouse hypertriglyceridemia Published, JLR Papers in Press, August 16, 2002. DOI 10.1194/jlr.M200189-JLR200 (2002) (354)
Cell death attenuation by `Usurpin', a mammalian DED-caspase homologue that precludes caspase-8 recruitment and activation by the CD-95 (Fas, APO-1) receptor complex (1998) (342)
Deficiency of ABCA1 Impairs Apolipoprotein E Metabolism in Brain* (2004) (341)
More Codeine Fatalities After Tonsillectomy in North American Children (2012) (340)
Recruitment and activation of caspase-8 by the Huntingtin-interacting protein Hip-1 and a novel partner Hippi (2002) (338)
The Influence of Huntingtin Protein Size on Nuclear Localization and Cellular Toxicity (1998) (334)
Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes. (2000) (329)
Pharmacogenomic prediction of anthracycline-induced cardiotoxicity in children. (2012) (328)
Palmitoylation of huntingtin by HIP14is essential for its trafficking and function (2006) (323)
Mutant huntingtin's effects on striatal gene expression in mice recapitulate changes observed in human Huntington's disease brain and do not differ with mutant huntingtin length or wild-type huntingtin dosage. (2007) (322)
Huntingtin-Interacting Protein HIP14 Is a Palmitoyl Transferase Involved in Palmitoylation and Trafficking of Multiple Neuronal Proteins (2004) (322)
Inhibition of Calpain Cleavage of Huntingtin Reduces Toxicity (2004) (322)
Cognitive Dysfunction Precedes Neuropathology and Motor Abnormalities in the YAC128 Mouse Model of Huntington's Disease (2005) (315)
CAG‐repeat length and the age of onset in Huntington disease (HD): A review and validation study of statistical approaches (2010) (309)
Preparing for preventive clinical trials: the Predict-HD study. (2006) (308)
Choosing an animal model for the study of Huntington's disease (2013) (304)
A one-hit model of cell death in inherited neuronal degenerations (2000) (301)
Restoration of Endothelial Function by Increasing High‐Density Lipoprotein in Subjects With Isolated Low High‐Density Lipoprotein (2003) (299)
ABCA1 mRNA and Protein Distribution Patterns Predict Multiple Different Roles and Levels of Regulation (2002) (297)
NMDA receptor function in mouse models of Huntington disease (2001) (293)
Pivotal role of ABCA1 in reverse cholesterol transport influencing HDL levels and susceptibility to atherosclerosis. (2001) (292)
Common Genetic Variation in ABCA1 Is Associated With Altered Lipoprotein Levels and a Modified Risk for Coronary Artery Disease (2001) (292)
Absence of behavioral abnormalities and neurodegeneration in vivo despite widespread neuronal huntingtin inclusions. (2005) (291)
Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene. (1996) (289)
A worldwide assessment of the frequency of suicide, suicide attempts, or psychiatric hospitalization after predictive testing for Huntington disease. (1999) (274)
MUTANT HUNTINGTIN BINDS THE MITOCHONDRIAL FISSION GTPASE DRP1 AND INCREASES ITS ENZYMATIC ACTIVTY (2011) (271)
Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract (2002) (263)
CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion (2012) (263)
Increased ABCA1 activity protects against atherosclerosis. (2002) (262)
Autophagy in Huntington disease and huntingtin in autophagy (2015) (261)
Wild-type huntingtin reduces the cellular toxicity of mutant huntingtin in vivo. (2001) (261)
Potent and selective antisense oligonucleotides targeting single-nucleotide polymorphisms in the Huntington disease gene / allele-specific silencing of mutant huntingtin. (2011) (259)
A lipoprotein lipase mutation (Asn291Ser) is associated with reduced HDL cholesterol levels in premature atherosclerosis (1995) (256)
Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects (1993) (254)
Deranged neuronal calcium signaling and Huntington disease. (2004) (253)
Specific caspase interactions and amplification are involved in selective neuronal vulnerability in Huntington's disease (2004) (245)
BDNF Overexpression in the Forebrain Rescues Huntington's Disease Phenotypes in YAC128 Mice (2010) (238)
Huntington's chorea. (1981) (237)
The Absence of ABCA1 Decreases Soluble ApoE Levels but Does Not Diminish Amyloid Deposition in Two Murine Models of Alzheimer Disease* (2005) (235)
When good drugs go bad (2007) (233)
Expanded polyglutamines in Caenorhabditis elegans cause axonal abnormalities and severe dysfunction of PLM mechanosensory neurons without cell death (2001) (232)
HIP14, a novel ankyrin domain-containing protein, links huntingtin to intracellular trafficking and endocytosis. (2002) (230)
Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course. (2003) (222)
Association between increased arterial-wall thickness and impairment in ABCA1-driven cholesterol efflux: an observational study (2002) (222)
An Actin-Binding Protein of the Sla2/Huntingtin Interacting Protein 1 Family Is a Novel Component of Clathrin-Coated Pits and Vesicles (1999) (219)
Mutant Huntingtin Enhances Excitotoxic Cell Death (2001) (218)
Kennedy's Disease (1999) (211)
Intramuscular administration of AAV1-lipoprotein lipase S447X lowers triglycerides in lipoprotein lipase-deficient patients. (2008) (208)
Clinical markers of early disease in persons near onset of Huntington’s disease (2001) (207)
Efflux and Atherosclerosis: The Clinical and Biochemical Impact of Variations in the ABCA1 Gene (2003) (206)
Human ABCA1 BAC Transgenic Mice Show Increased High Density Lipoprotein Cholesterol and ApoAI-dependent Efflux Stimulated by an Internal Promoter Containing Liver X Receptor Response Elements in Intron 1* (2001) (205)
Perceptions of genetic discrimination among people at risk for Huntington’s disease: a cross sectional survey (2009) (204)
CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup. (2009) (202)
Subtype‐Specific Enhancement of NMDA Receptor Currents by Mutant Huntingtin (1999) (201)
Positron emission tomography in the early diagnosis of Huntington's disease (1986) (197)
HIP1 Functions in Clathrin-mediated Endocytosis through Binding to Clathrin and Adaptor Protein 2* (2001) (195)
Beyond disgust: impaired recognition of negative emotions prior to diagnosis in Huntington's disease. (2007) (193)
Wild‐type huntingtin protects neurons from excitotoxicity (2006) (191)
The Gln-Ala repeat transcriptional activator CA150 interacts with huntingtin: neuropathologic and genetic evidence for a role in Huntington's disease pathogenesis. (2001) (190)
Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy (2013) (188)
Selective degeneration and nuclear localization of mutant huntingtin in the YAC128 mouse model of Huntington disease. (2005) (187)
Potentiation of NMDA receptor-mediated excitotoxicity linked with intrinsic apoptotic pathway in YAC transgenic mouse model of Huntington's disease (2004) (186)
A Coding Variant in RARG Confers Susceptibility to Anthracycline-Induced Cardiotoxicity in Childhood Cancer (2015) (186)
Differential effect of the rs4149056 variant in SLCO1B1 on myopathy associated with simvastatin and atorvastatin (2011) (181)
Sex-dependent mechanisms for expansions and contractions of the CAG repeat on affected Huntington disease chromosomes. (1995) (177)
Macrophage ATP-Binding Cassette Transporter A1 Overexpression Inhibits Atherosclerotic Lesion Progression in Low-Density Lipoprotein Receptor Knockout Mice (2006) (176)
Apolipoprotein B gene variants are involved in the determination of serum cholesterol levels: a study in normo- and hyperlipidaemic individuals. (1987) (176)
Huntingtin Bodies Sequester Vesicle-Associated Proteins by a Polyproline-Dependent Interaction (2004) (174)
Guidelines for the molecular genetics predictive test in Huntington's disease (1994) (173)
Recommendations for genetic testing to reduce the incidence of anthracycline‐induced cardiotoxicity (2016) (171)
Genetic and environmental factors affecting the incidence of coronary artery disease in heterozygous familial hypercholesterolemia. (1991) (171)
Automated deformation analysis in the YAC128 Huntington disease mouse model (2008) (171)
Loss of wild-type huntingtin influences motor dysfunction and survival in the YAC128 mouse model of Huntington disease. (2005) (166)
Predictive testing for Huntington disease in Canada: the experience of those receiving an increased risk. (1992) (163)
Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease (2003) (161)
Huntingtin phosphorylation on serine 421 is significantly reduced in the striatum and by polyglutamine expansion in vivo. (2005) (161)
Lipoprotein Lipase S447X: A Naturally Occurring Gain-of-Function Mutation (2006) (157)
Age-Dependent Alterations of Corticostriatal Activity in the YAC128 Mouse Model of Huntington Disease (2009) (157)
Predictive, pre‐natal and diagnostic genetic testing for Huntington's disease: the experience in Canada from 1987 to 2000 (2003) (155)
Caspases and neurodegeneration: on the cutting edge of new therapeutic approaches (2000) (155)
A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study. (2003) (155)
Huntingtin Interacting Protein 1 Induces Apoptosis via a Novel Caspase-dependent Death Effector Domain* (2000) (154)
Huntingtin Associates with Acidic Phospholipids at the Plasma Membrane* (2005) (153)
Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates. (2004) (153)
Increased huntingtin protein length reduces the number of polyglutamine-induced gene expression changes in mouse models of Huntington's disease. (2002) (152)
Prevention of depressive behaviour in the YAC128 mouse model of Huntington disease by mutation at residue 586 of huntingtin. (2008) (151)
HTT haplotypes contribute to differences in Huntington disease prevalence between Europe and East Asia (2011) (150)
A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: implications for diagnostic accuracy and predictive testing. (1994) (150)
Accumulation of N-terminal mutant huntingtin in mouse and monkey models implicated as a pathogenic mechanism in Huntington's disease. (2008) (149)
A highly polymorphic locus very tightly linked to the Huntington's disease gene (1988) (148)
Neuronal palmitoyl acyl transferases exhibit distinct substrate specificity (2009) (147)
Elevated brain 3-hydroxykynurenine and quinolinate levels in Huntington disease mice (2006) (147)
Multisource ascertainment of Huntington disease in Canada: Prevalence and population at risk (2014) (146)
Validation of variants in SLC28A3 and UGT1A6 as genetic markers predictive of anthracycline‐induced cardiotoxicity in children (2013) (145)
Variations on a gene: rare and common variants in ABCA1 and their impact on HDL cholesterol levels and atherosclerosis. (2006) (145)
Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy (2009) (144)
Influence of lamotrigine on progression of early Huntington disease (1999) (144)
Genetic Variant Showing a Positive Interaction With β-Blocking Agents With a Beneficial Influence on Lipoprotein Lipase Activity, HDL Cholesterol, and Triglyceride Levels in Coronary Artery Disease Patients: The Ser447-Stop Substitution in the Lipoprotein Lipase Gene (1997) (143)
Predictive testing for Huntington disease: II. Demographic characteristics, life-style patterns, attitudes, and psychosocial assessments of the first fifty-one test candidates. (1989) (140)
Mutant Huntingtin N-terminal Fragments of Specific Size Mediate Aggregation and Toxicity in Neuronal Cells* (2009) (140)
Early Increase in Extrasynaptic NMDA Receptor Signaling and Expression Contributes to Phenotype Onset in Huntington's Disease Mice (2010) (139)
Activated caspase-6 and caspase-6-cleaved fragments of huntingtin specifically colocalize in the nucleus. (2008) (139)
Phenotypic variation in heterozygous familial hypercholesterolemia: a comparison of Chinese patients with the same or similar mutations in the LDL receptor gene in China or Canada. (1998) (138)
Cholesterol in islet dysfunction and type 2 diabetes. (2008) (137)
Accurate Prediction of the Functional Significance of Single Nucleotide Polymorphisms and Mutations in the ABCA1 Gene (2005) (137)
Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population. (1995) (136)
Rational design of antisense oligonucleotides targeting single nucleotide polymorphisms for potent and allele selective suppression of mutant Huntingtin in the CNS (2013) (136)
Als2-deficient mice exhibit disturbances in endosome trafficking associated with motor behavioral abnormalities. (2006) (136)
A common truncation variant of lipoprotein lipase (Ser447X) confers protection against coronary heart disease: the Framingham Offspring Study (1999) (135)
Cholesterol Defect Is Marked across Multiple Rodent Models of Huntington's Disease and Is Manifest in Astrocytes (2010) (135)
Cholesterol efflux regulatory protein, Tangier disease and familial high-density lipoprotein deficiency (2000) (133)
A novel apoA-I mutation (L178P) leads to endothelial dysfunction, increased arterial wall thickness, and premature coronary artery disease. (2004) (133)
Predictive testing for Huntington disease: interpretation and significance of intermediate alleles (2006) (132)
A functional ABCA1 gene variant is associated with low HDL-cholesterol levels and shows evidence of positive selection in Native Americans. (2010) (130)
Psychological consequences and predictors of adverse events in the first 5 years after predictive testing for Huntington's disease (2003) (130)
miR-33a Modulates ABCA1 Expression, Cholesterol Accumulation, and Insulin Secretion in Pancreatic Islets (2012) (130)
Specific Loss of Brain ABCA1 Increases Brain Cholesterol Uptake and Influences Neuronal Structure and Function (2009) (130)
Depletion of wild‐type huntingtin in mouse models of neurologic diseases (2003) (129)
The Asp9 Asn mutation in the lipoprotein lipase gene is associated with increased progression of coronary atherosclerosis. REGRESS Study Group, Interuniversity Cardiology Institute, Utrecht, The Netherlands. Regression Growth Evaluation Statin Study. (1996) (129)
Marked differences in neurochemistry and aggregates despite similar behavioural and neuropathological features of Huntington disease in the full-length BACHD and YAC128 mice. (2012) (129)
Mitochondrial-Dependent Ca2+ Handling in Huntington's Disease Striatal Cells: Effect of Histone Deacetylase Inhibitors (2006) (129)
Striatal neuronal apoptosis is preferentially enhanced by NMDA receptor activation in YAC transgenic mouse model of Huntington disease (2006) (128)
Differential Susceptibility to Excitotoxic Stress in YAC128 Mouse Models of Huntington Disease between Initiation and Progression of Disease (2009) (128)
Rethinking genotype and phenotype correlations in polyglutamine expansion disorders. (1997) (128)
Altered NMDA Receptor Trafficking in a Yeast Artificial Chromosome Transgenic Mouse Model of Huntington's Disease (2007) (127)
Putting proteins in their place: Palmitoylation in Huntington disease and other neuropsychiatric diseases (2012) (127)
Common sequence variants of lipoprotein lipase: standardized studies of in vitro expression and catalytic function. (1996) (126)
Mutant huntingtin: nuclear translocation and cytotoxicity mediated by GAPDH. (2006) (126)
Mitochondrial Sensitivity and Altered Calcium Handling Underlie Enhanced NMDA-Induced Apoptosis in YAC128 Model of Huntington's Disease (2007) (125)
Protein Kinase A Site-specific Phosphorylation Regulates ATP-binding Cassette A1 (ABCA1)-mediated Phospholipid Efflux* (2002) (125)
Cortical thickness measured from MRI in the YAC128 mouse model of Huntington's disease (2008) (125)
Role of NR2B-type NMDA receptors in selective neurodegeneration in Huntington disease (2003) (124)
Full length mutant huntingtin is required for altered Ca2+ signaling and apoptosis of striatal neurons in the YAC mouse model of Huntington's disease (2008) (124)
Cholesterol metabolism in Huntington disease (2011) (123)
ABCA1 Is Essential for Efficient Basolateral Cholesterol Efflux during the Absorption of Dietary Cholesterol in Chickens* (2003) (123)
HDL and LDL cholesterol significantly influence β-cell function in type 2 diabetes mellitus (2010) (122)
Deletion of Huntington's disease-linked G8 (D4S10) locus in Wolf–Hirschhorn syndrome (1985) (121)
Cleavage of Atrophin-1 at Caspase Site Aspartic Acid 109 Modulates Cytotoxicity* (1999) (121)
High frequency of mutations in the human lipoprotein lipase gene in pregnancy-induced chylomicronemia: possible association with apolipoprotein E2 isoform. (1994) (121)
Huntingtin inhibits caspase‐3 activation (2006) (121)
Treatment of Nav1.7-mediated pain in inherited erythromelalgia using a novel sodium channel blocker (2012) (120)
Elevated plasma triglyceride levels precede amyloid deposition in Alzheimer’s disease mouse models with abundant Aβ in plasma (2006) (120)
Modeling Doxorubicin-Induced Cardiotoxicity in Human Pluripotent Stem Cell Derived-Cardiomyocytes (2016) (120)
Ethyl-EPA in Huntington disease (2005) (119)
Absence of disease phenotype and intergenerational stability of the CAG repeat in transgenic mice expressing the human Huntington disease transcript. (1996) (119)
Verbal episodic memory declines prior to diagnosis in Huntington's disease (2007) (119)
DNA polymorphisms in and around the Apo-A1-CIII genes and genetic hyperlipidemias. (1987) (118)
Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: evidence from single sperm analyses. (1997) (117)
Caspase-6 and neurodegeneration (2011) (117)
Mutation of conserved cysteines in the Ly6 domain of GPIHBP1 in familial chylomicronemia (2010) (116)
Disruption of the endocytic protein HIP1 results in neurological deficits and decreased AMPA receptor trafficking (2003) (116)
Carriers of Loss-of-Function Mutations in ABCA1 Display Pancreatic β-Cell Dysfunction (2008) (115)
Human huntingtin derived from YAC transgenes compensates for loss of murine huntingtin by rescue of the embryonic lethal phenotype. (1996) (115)
Huntingtin Interacting Protein 1 (HIP1) Regulates Clathrin Assembly through Direct Binding to the Regulatory Region of the Clathrin Light Chain* (2005) (115)
Cleavage at the 586 Amino Acid Caspase-6 Site in Mutant huntingtin Influences Caspase-6 Activation In Vivo (2010) (114)
Tissue-Specific Induction of Intestinal ABCA1 Expression With a Liver X Receptor Agonist Raises Plasma HDL Cholesterol Levels (2006) (114)
In vivo evaluation of candidate allele-specific mutant huntingtin gene silencing antisense oligonucleotides. (2014) (112)
Enhanced striatal NR2B-containing N-methyl-D-aspartate receptor-mediated synaptic currents in a mouse model of Huntington disease. (2004) (111)
Small Changes, Big Impact (2011) (111)
Altered palmitoylation and neuropathological deficits in mice lacking HIP14. (2011) (111)
Central nervous system depression of neonates breastfed by mothers receiving oxycodone for postpartum analgesia. (2012) (111)
Familial influence on age of onset among siblings with Huntington disease. (2001) (111)
Magnetic resonance spectroscopy biomarkers in premanifest and early Huntington disease (2010) (109)
Cholesterol efflux via ATP-binding cassette transporter A1 (ABCA1) and cholesterol uptake via the LDL receptor influences cholesterol-induced impairment of beta cell function in mice (2010) (109)
Testicular degeneration in Huntington disease (2007) (109)
Replication of TPMT and ABCC3 Genetic Variants Highly Associated With Cisplatin-Induced Hearing Loss in Children (2013) (108)
Double-stranded RNA-dependent protein kinase, PKR, binds preferentially to Huntington's disease (HD) transcripts and is activated in HD tissue. (2001) (108)
HIP1 and HIP12 Display Differential Binding to F-actin, AP2, and Clathrin (2002) (108)
Body weight is modulated by levels of full-length huntingtin. (2006) (108)
An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindred (2003) (107)
Cystamine treatment is neuroprotective in the YAC128 mouse model of Huntington disease (2005) (107)
Opinion: predictive testing for Huntington disease in childhood: challenges and implications. (1990) (107)
Cholesterol biosynthesis pathway is disturbed in YAC128 mice and is modulated by huntingtin mutation. (2007) (106)
Loss of Both ABCA1 and ABCG1 Results in Increased Disturbances in Islet Sterol Homeostasis, Inflammation, and Impaired β-Cell Function (2012) (105)
Phosphorylation of huntingtin reduces the accumulation of its nuclear fragments (2009) (105)
Antisense oligonucleotide therapeutics for inherited neurodegenerative diseases. (2012) (104)
Tissue-Specific Roles of ABCA1 Influence Susceptibility to Atherosclerosis (2009) (104)
Full-length huntingtin levels modulate body weight by influencing insulin-like growth factor 1 expression. (2010) (104)
Plasma and vessel wall lipoprotein lipase have different roles in atherosclerosis. (2000) (104)
Phenotypic abnormalities in the YAC128 mouse model of Huntington disease are penetrant on multiple genetic backgrounds and modulated by strain (2007) (103)
Mouse models of Huntington disease: variations on a theme (2009) (103)
Transcriptional changes in Huntington disease identified using genome-wide expression profiling and cross-platform analysis. (2010) (103)
Curation of the Mammalian Palmitoylome Indicates a Pivotal Role for Palmitoylation in Diseases and Disorders of the Nervous System and Cancers (2015) (102)
Differential 3' polyadenylation of the Huntington disease gene results in two mRNA species with variable tissue expression. (1993) (101)
Lipoprotein lipase activity is decreased in a large cohort of patients with coronary artery disease and is associated with changes in lipids and lipoproteins. (1999) (101)
HLA-A*31:01 and HLA-B*15:02 as genetic markers for carbamazepine hypersensitivity in children (2013) (101)
Hippi is essential for node cilia assembly and Sonic hedgehog signaling. (2006) (101)
Islet Cholesterol Accumulation Due to Loss of ABCA1 Leads to Impaired Exocytosis of Insulin Granules (2011) (101)
Laquinimod arrests experimental autoimmune encephalomyelitis by activating the aryl hydrocarbon receptor (2016) (100)
Palmitoylation and function of glial glutamate transporter-1 is reduced in the YAC128 mouse model of Huntington disease (2010) (100)
A major insertion accounts for a significant proportion of mutations underlying human lipoprotein lipase deficiency. (1989) (100)
Therapeutic approaches to Huntington disease: from the bench to the clinic (2018) (100)
Age-dependent neurovascular abnormalities and altered microglial morphology in the YAC128 mouse model of Huntington disease (2012) (99)
Striatal neurochemical changes in transgenic models of Huntington's disease (2002) (98)
Alterations of plasma lipids in mice via adenoviral-mediated hepatic overexpression of human ABCA1 Published, JLR Papers in Press, May 1, 2003. DOI 10.1194/jlr.M300110-JLR200 (2003) (98)
Altered adult hippocampal neurogenesis in the YAC128 transgenic mouse model of Huntington disease (2011) (98)
The psychological consequences of predictive testing for Huntington's disease. Canadian Collaborative Study of Predictive Testing. (1993) (98)
Huntington's disease–like 2 (HDL2) in North America and Japan (2004) (97)
Despite Antiatherogenic Metabolic Characteristics, SCD1-Deficient Mice Have Increased Inflammation and Atherosclerosis (2009) (97)
Interaction of Postsynaptic Density Protein-95 with NMDA Receptors Influences Excitotoxicity in the Yeast Artificial Chromosome Mouse Model of Huntington's Disease (2009) (96)
ABCA1 regulatory variants influence coronary artery disease independent of effects on plasma lipid levels (2002) (95)
Specific Mutations in ABCA1 Have Discrete Effects on ABCA1 Function and Lipid Phenotypes Both In Vivo and In Vitro (2006) (95)
Allele-Specific Suppression of Mutant Huntingtin Using Antisense Oligonucleotides: Providing a Therapeutic Option for All Huntington Disease Patients (2014) (95)
Genetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase (LCAT) deficiency. Six newly identified defective alleles further contribute to the structural heterogeneity in this disease. (1993) (95)
HD iPSC-derived neural progenitors accumulate in culture and are susceptible to BDNF withdrawal due to glutamate toxicity. (2015) (94)
Regulation of ABCA1 Protein Expression and Function in Hepatic and Pancreatic Islet Cells by miR-145 (2013) (94)
Disturbed Ca 2 signaling and apoptosis of medium spiny neurons in Huntington ’ s disease (2005) (93)
Both Hepatic and Extrahepatic ABCA1 Have Discrete and Essential Functions in the Maintenance of Plasma High-Density Lipoprotein Cholesterol Levels In Vivo (2006) (93)
Predictive testing for Huntington disease: I. Description of a pilot project in British Columbia. (1989) (93)
Neuronal degeneration in the basal ganglia and loss of pallido-subthalamic synapses in mice with targeted disruption of the Huntington's disease gene (1999) (93)
A fully humanized transgenic mouse model of Huntington disease. (2013) (92)
The sigma-1 receptor mediates the beneficial effects of pridopidine in a mouse model of Huntington disease (2017) (92)
Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease. (2019) (91)
Levels of mutant huntingtin influence the phenotypic severity of Huntington disease in YAC128 mouse models (2006) (91)
In vitro evidence for both the nucleus and cytoplasm as subcellular sites of pathogenesis in Huntington's disease. (1999) (90)
A SNP in the HTT promoter alters NF-κB binding and is a bidirectional genetic modifier of Huntington disease (2015) (90)
Comparative Mitochondrial-Based Protective Effects of Resveratrol and Nicotinamide in Huntington’s Disease Models (2017) (90)
Restrictive dermopathy: a newly recognized autosomal recessive skin dysplasia. (1986) (90)
Suppressing aberrant GluN3A expression rescues synaptic and behavioral impairments in Huntington's disease models (2013) (90)
Spontaneous Atherosclerosis in Aged Lipoprotein Lipase–Deficient Mice With Severe Hypertriglyceridemia on a Normal Chow Diet (2008) (89)
A common mutation in the lipoprotein lipase gene (N291S) alters the lipoprotein phenotype and risk for cardiovascular disease in patients with familial hypercholesterolemia. (1998) (89)
Nuclear Localization of a Non-caspase Truncation Product of Atrophin-1, with an Expanded Polyglutamine Repeat, Increases Cellular Toxicity* (2003) (89)
Presymptomatic neuropsychological impairment in Huntington's disease. (1988) (89)
Design, Characterization, and Lead Selection of Therapeutic miRNAs Targeting Huntingtin for Development of Gene Therapy for Huntington's Disease (2016) (89)
Phosphorylation of Huntingtin at Ser421 in YAC128 Neurons Is Associated with Protection of YAC128 Neurons from NMDA-Mediated Excitotoxicity and Is Modulated by PP1 and PP2A (2010) (86)
The Salmonella Type III Effector SspH2 Specifically Exploits the NLR Co-chaperone Activity of SGT1 to Subvert Immunity (2013) (85)
Familial defective apolipoprotein B-100 is clinically indistinguishable from familial hypercholesterolemia. (1993) (85)
The prevalence of Huntington's chorea in South Africa. (1980) (85)
Targeted disruption of Huntingtin-associated protein-1 (Hap1) results in postnatal death due to depressed feeding behavior. (2002) (84)
CAG-encoded polyglutamine length polymorphism in the human genome (2007) (84)
Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16 (2004) (84)
Genome-wide significance for a modifier of age at neurological onset in Huntington's Disease at 6q23-24: the HD MAPS study (2006) (83)
The prediction of exons through an analysis of spliceable open reading frames (1992) (82)
Correction of feline lipoprotein lipase deficiency with adeno-associated virus serotype 1-mediated gene transfer of the lipoprotein lipase S447X beneficial mutation. (2006) (82)
A PCR method for accurate assessment of trinucleotide repeat expansion in Huntington disease. (1993) (82)
Fatal Hydrocodone Overdose in a Child: Pharmacogenetics and Drug Interactions (2010) (81)
Analysis of DNA changes in the LPL gene in patients with familial combined hyperlipidemia. (1994) (81)
ABCA1 in adipocytes regulates adipose tissue lipid content, glucose tolerance, and insulin sensitivity[S] (2014) (81)
Genetic variants in SLC22A17 and SLC22A7 are associated with anthracycline-induced cardiotoxicity in children. (2015) (79)
Partial gene duplication involving exon-Alu interchange results in lipoprotein lipase deficiency. (1990) (79)
Wild-type HTT modulates the enzymatic activity of the neuronal palmitoyl transferase HIP14. (2011) (79)
Measurement of mutational flow implies both a high new-mutation rate for Huntington disease and substantial underascertainment of late-onset cases. (2001) (78)
HACE1 reduces oxidative stress and mutant Huntingtin toxicity by promoting the NRF2 response (2014) (78)
Novel mutations in scavenger receptor BI associated with high HDL cholesterol in humans (2011) (78)
Huntingtin suppression restores cognitive function in a mouse model of Huntington’s disease (2018) (78)
Regional Cerebral Glucose Metabolism in Turner Syndrome (1990) (78)
Adverse drug reaction active surveillance: developing a national network in Canada's children's hospitals (2009) (77)
Loss of Cyp8b1 Improves Glucose Homeostasis by Increasing GLP-1 (2014) (77)
The role of free fatty acids, pancreatic lipase and Ca2+ signalling in injury of isolated acinar cells and pancreatitis model in lipoprotein lipase‐deficient mice (2009) (76)
Patients with apoE3 deficiency (E2/2, E3/2, and E4/2) who manifest with hyperlipidemia have increased frequency of an Asn 291-->Ser mutation in the human LPL gene. (1995) (76)
Characterization of six partial deletions in the low-density-lipoprotein (LDL) receptor gene causing familial hypercholesterolemia (FH). (1988) (76)
Effects of CAG repeat length, HTT protein length and protein context on cerebral metabolism measured using magnetic resonance spectroscopy in transgenic mouse models of Huntington's disease (2005) (76)
Toward Understanding the Molecular Pathology of Huntington's Disease (1997) (75)
Ultrasensitive measurement of huntingtin protein in cerebrospinal fluid demonstrates increase with Huntington disease stage and decrease following brain huntingtin suppression (2015) (75)
Molecular analysis of late onset Huntington's disease. (1993) (74)
Long-term correction of murine lipoprotein lipase deficiency with AAV1-mediated gene transfer of the naturally occurring LPL(S447X) beneficial mutation. (2004) (74)
Polyglutamine-Modulated Striatal Calpain Activity in YAC Transgenic Huntington Disease Mouse Model: Impact on NMDA Receptor Function and Toxicity (2008) (74)
The emerging era of pharmacogenomics: current successes, future potential, and challenges (2014) (71)
Complete Rescue of Lipoprotein Lipase–Deficient Mice by Somatic Gene Transfer of the Naturally Occurring LPLS447X Beneficial Mutation (2005) (71)
Palmitoylation of ATP-Binding Cassette Transporter A1 Is Essential for Its Trafficking and Function (2009) (70)
Tracking brain palmitoylation change: predominance of glial change in a mouse model of Huntington's disease. (2013) (70)
Long-term lentiviral-mediated expression of ciliary neurotrophic factor in the striatum of Huntington's disease transgenic mice (2004) (70)
Absence of stearoyl-CoA desaturase-1 ameliorates features of the metabolic syndrome in LDLR-deficient mice Published, JLR Papers in Press, October 24, 2007. (2008) (70)
Ethical and legal dilemmas arising during predictive testing for adult-onset disease: the experience of Huntington disease. (1990) (70)
Correction of hypertriglyceridemia and impaired fat tolerance in lipoprotein lipase-deficient mice by adenovirus-mediated expression of human lipoprotein lipase. (1997) (69)
Whole-Genome Sequencing: The New Standard of Care? (2012) (69)
The Canadian Pharmacogenomics Network for Drug Safety: a model for safety pharmacology. (2010) (69)
Anti-semaphorin 4D immunotherapy ameliorates neuropathology and some cognitive impairment in the YAC128 mouse model of Huntington disease (2015) (69)
Targeted Deletion of Hepatocyte ABCA1 Leads to Very Low Density Lipoprotein Triglyceride Overproduction and Low Density Lipoprotein Hypercatabolism* (2010) (69)
Natural history of disease in the YAC128 mouse reveals a discrete signature of pathology in Huntington disease (2011) (69)
Convergent pathogenic pathways in Alzheimer's and Huntington's diseases: shared targets for drug development (2011) (69)
Rescue from excitotoxicity and axonal degeneration accompanied by age-dependent behavioral and neuroanatomical alterations in caspase-6-deficient mice. (2012) (69)
Huntingtin Haplotypes Provide Prioritized Target Panels for Allele-specific Silencing in Huntington Disease Patients of European Ancestry. (2015) (68)
Enhanced susceptibility to pancreatitis in severe hypertriglyceridaemic lipoprotein lipase-deficient mice and agonist-like function of pancreatic lipase in pancreatic cells (2008) (68)
Different mechanisms underlie DNA instability in Huntington disease and colorectal cancer. (1997) (67)
Familial aggregation of psychotic symptoms in Huntington's disease. (2000) (67)
Mycophenolate mofetil attenuates plaque inflammation in patients with symptomatic carotid artery stenosis. (2010) (67)
Huntington disease: new insights into the relationship between CAG expansion and disease. (1996) (66)
Huntingtin-Interacting Protein 1 Influences Worm and Mouse Presynaptic Function and Protects Caenorhabditis elegans Neurons against Mutant Polyglutamine Toxicity (2007) (66)
Mutagenesis in four candidate heparin binding regions (residues 279-282, 291-304, 390-393, and 439-448) and identification of residues affecting heparin binding of human lipoprotein lipase. (1994) (66)
N-Terminal Proteolysis of Full-Length Mutant Huntingtin in an Inducible PC12 Cell Model of Huntington’s Disease (2007) (65)
Sequence of the murine Huntington dusease gene: evidence for conservation, and polymorphism in a triplet (CCG) repeat alternate splicing (1994) (65)
Hip14l-deficient mice develop neuropathological and behavioural features of Huntington disease. (2013) (65)
Prediction of Codeine Toxicity in Infants and Their Mothers Using a Novel Combination of Maternal Genetic Markers (2012) (65)
Alterations in plasma lipoproteins and apolipoproteins before the age of 40 in heterozygotes for lipoprotein lipase deficiency. (1996) (65)
The global spectrum of protein-coding pharmacogenomic diversity (2016) (64)
Engagement with genetic discrimination: concerns and experiences in the context of Huntington disease (2008) (64)
Gene-environment interaction in the conversion of a mild-to-severe phenotype in a patient homozygous for a Ser172-->Cys mutation in the lipoprotein lipase gene. (1993) (64)
Two common mutations (D9N, N291S) in lipoprotein lipase: a cumulative analysis of their influence on plasma lipids and lipoproteins in men and women (1999) (64)
Gene therapy for lipoprotein lipase deficiency: working toward clinical application. (2005) (64)
Huntington disease: new insights on the role of huntingtin cleavage. (2000) (63)
Structural and molecular myelination deficits occur prior to neuronal loss in the YAC128 and BACHD models of Huntington disease (2016) (63)
Genetic variant showing a positive interaction with beta-blocking agents with a beneficial influence on lipoprotein lipase activity, HDL cholesterol, and triglyceride levels in coronary artery disease patients. The Ser447-stop substitution in the lipoprotein lipase gene. REGRESS Study Group. (1997) (62)
IGF-1 Intranasal Administration Rescues Huntington's Disease Phenotypes in YAC128 Mice (2014) (62)
The ATP-binding cassette transporter 1 mediates lipid efflux from Sertoli cells and influences male fertility Published, JLR Papers in Press, March 16, 2004. DOI 10.1194/jlr.M400007-JLR200 (2004) (62)
Adverse psychological events occurring in the first year after predictive testing for Huntington's disease. The Canadian Collaborative Study Predictive Testing. (1996) (62)
Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region. (2012) (62)
Ethyl-EPA treatment improves motor dysfunction, but not neurodegeneration in the YAC128 mouse model of Huntington disease (2005) (62)
Gender differences in expression of the human caspase-12 long variant determines susceptibility to Listeria monocytogenes infection (2009) (62)
CAG size-specific risk estimates for intermediate allele repeat instability in Huntington disease (2013) (61)
Amino acid substitution (Ile194----Thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands. Support for a multicentric origin. (1991) (61)
Huntington disease reduced penetrance alleles occur at high frequency in the general population (2016) (61)
An enhanced Q175 knock-in mouse model of Huntington disease with higher mutant huntingtin levels and accelerated disease phenotypes. (2016) (61)
Segments in the C-terminal Folding Domain of Lipoprotein Lipase Important for Binding to the Low Density Lipoprotein Receptor-related Protein and to Heparan Sulfate Proteoglycans* (1997) (61)
Structural features in lipoprotein lipase necessary for the mediation of lipoprotein uptake into cells. (1995) (61)
Unstable familial transmissions of Huntington disease alleles with 27–35 CAG repeats (intermediate alleles) (2009) (61)
Social perspectives in Huntington's chorea. (1980) (60)
Identification of a post-translationally myristoylated autophagy-inducing domain released by caspase cleavage of huntingtin. (2014) (60)
Lipoprotein Lipase Activity Is Associated With Severity of Angina Pectoris (2000) (60)
The Asn9 variant of lipoprotein lipase is associated with the — 93G promoter mutation and an increased risk of coronary artery disease (1998) (59)
Treatment of YAC128 mice and their wild‐type littermates with cystamine does not lead to its accumulation in plasma or brain: implications for the treatment of Huntington disease (2005) (59)
Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency. (1996) (59)
Pridopidine activates neuroprotective pathways impaired in Huntington Disease (2016) (58)
Attitudes Toward Direct Predictive Testing for the Huntington Disease Gene: Relevance for Other Adult-Onset Disorders (1993) (57)
The Impact of Partial and Complete Loss-of-Function Mutations in Endothelial Lipase on High-Density Lipoprotein Levels and Functionality in Humans (2013) (57)
HAP1 facilitates effects of mutant huntingtin on inositol 1,4,5‐trisphosphate‐induced Ca2+ release in primary culture of striatal medium spiny neurons (2004) (57)
The palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's disease. (2014) (57)
The LPL S447X cSNP is associated with decreased blood pressure and plasma triglycerides, and reduced risk of coronary artery disease (2001) (57)
Genetic variants affecting human lipoprotein and hepatic lipases (1991) (56)
A somatic cell hybrid panel for localizing DNA segments near the Huntington's disease gene. (1987) (56)
Antisense oligonucleotide-mediated correction of transcriptional dysregulation is correlated with behavioral benefits in the YAC128 mouse model of Huntington's disease. (2013) (56)
Recent insights into the molecular pathogenesis of Huntington disease. (1999) (56)
A frequently occurring mutation in the lipoprotein lipase gene (Asn291Ser) results in altered postprandial chylomicron triglyceride and retinyl palmitate response in normolipidemic carriers. (1996) (55)
Targeting the Sigma-1 Receptor via Pridopidine Ameliorates Central Features of ALS Pathology in a SOD1G93A Model (2019) (55)
A Huntington disease-like neurodegenerative disorder maps to chromosome 20p. (1998) (55)
Intrinsic mutant HTT-mediated defects in oligodendroglia cause myelination deficits and behavioral abnormalities in Huntington disease (2019) (55)
Selective degeneration in YAC mouse models of Huntington disease (2007) (55)
Transgenic Mouse Model Expressing the Caspase 6 Fragment of Mutant Huntingtin (2012) (55)
Sequence of the murine Huntington disease gene: evidence for conservation, alternate splicing and polymorphism in a triplet (CCG) repeat [corrected]. (1994) (54)
Attitudes toward direct predictive testing for the Huntington disease gene. Relevance for other adult-onset disorders. The Canadian Collaborative Group on Predictive Testing for Huntington Disease. (1993) (54)
Glutamate receptor abnormalities in the YAC128 transgenic mouse model of Huntington’s disease (2007) (54)
Perceptions of discrimination among persons who have undergone predictive testing for Huntington's disease (2008) (53)
Improved predictive testing for Huntington disease by using three linked DNA markers. (1988) (53)
ABCA1 influences neuroinflammation and neuronal death (2013) (53)
Safety and efficacy of pridopidine in patients with Huntington's disease (PRIDE-HD): a phase 2, randomised, placebo-controlled, multicentre, dose-ranging study (2019) (53)
Huntingtin is required for normal hematopoiesis. (2000) (53)
Wild-type huntingtin ameliorates striatal neuronal atrophy but does not prevent other abnormalities in the YAC128 mouse model of Huntington disease (2006) (52)
Ethnic variation and in vivo effects of the -93t-->g promoter variant in the lipoprotein lipase gene. (1997) (52)
Huntington disease in the South African population occurs on diverse and ethnically distinct genetic haplotypes (2013) (52)
Of molecular interactions, mice and mechanisms: new insights into Huntington's disease. (1997) (51)
Characterization and organization of DNA sequences adjacent to the human telomere associated repeat (TTAGGG)n. (1990) (51)
p53 increases caspase-6 expression and activation in muscle tissue expressing mutant huntingtin. (2014) (51)
Mycophenolate mofetil (MMF): firing at the atherosclerotic plaque from different angles? (2006) (51)
FIRST-TRIMESTER PRENATAL DIAGNOSIS FOR HUNTINGTON'S DISEASE WITH DNA PROBES (1987) (51)
Increased risk of coronary artery disease in Caucasians with extremely low HDL cholesterol due to mutations in ABCA1, APOA1, and LCAT. (2012) (51)
Pharmacogenomics of Vincristine‐Induced Peripheral Neuropathy Implicates Pharmacokinetic and Inherited Neuropathy Genes (2018) (51)
Laquinimod rescues striatal, cortical and white matter pathology and results in modest behavioural improvements in the YAC128 model of Huntington disease (2016) (51)
Arrested epidermal morphogenesis in three newborn infants with a fatal genetic disorder (restrictive dermopathy). (1987) (50)
Onset and pre-onset studies to define the Huntington’s disease natural history (2001) (50)
Silent periods, long-latency reflexes and cortical MEPs in Huntington's disease and at-risk relatives. (1989) (50)
Cloning and characterization of three novel genes, ALS2CR1, ALS2CR2, and ALS2CR3, in the juvenile amyotrophic lateral sclerosis (ALS2) critical region at chromosome 2q33-q34: candidate genes for ALS2. (2001) (50)
A longitudinal study of magnetic resonance spectroscopy Huntington's disease biomarkers (2015) (49)
The factor structure for positive and negative symptoms in South African Xhosa patients with schizophrenia (2001) (49)
Partial rescue of some features of Huntington Disease in the genetic absence of caspase-6 in YAC128 mice (2015) (49)
A grand challenge: Providing benefits of clinical genetics to those in need (2011) (49)
Perception, experience, and response to genetic discrimination in Huntington disease: The international RESPOND‐HD study (2010) (49)
Dopamine D2 receptor gene variants and response to rasagiline in early Parkinson's disease: a pharmacogenetic study. (2016) (48)
New Insights Into the Clinical Features, Pathogenesis and Molecular Genetics of Huntington Disease (1992) (48)
Presynaptic Defects Underlying Impaired Learning and Memory Function in Lipoprotein Lipase-Deficient Mice (2009) (48)
Cholesterol in β-cell Dysfunction: The Emerging Connection Between HDL Cholesterol and Type 2 Diabetes (2010) (48)
CYP2D6 Polymorphisms and Codeine Analgesia in Postpartum Pain Management: A Pilot Study (2011) (48)
NMDA Receptor Function and NMDA Receptor-Dependent Phosphorylation of Huntingtin Is Altered by the Endocytic Protein HIP1 (2007) (48)
The role of the ABCA1 transporter and cholesterol efflux in familial hypoalphalipoproteinemia Published, JLR Papers in Press, April 16, 2003. DOI 10.1194/jlr.M300080-JLR200 (2003) (48)
Personalized gene silencing therapeutics for Huntington disease (2014) (48)
Hereditary Late-Onset Chorea Without Significant Dementia (1995) (47)
Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis. (2003) (47)
In their own words: Reports of stigma and genetic discrimination by people at risk for Huntington disease in the International RESPOND‐HD study (2010) (47)
From mutation identification to therapy: discovery and origins of the first approved gene therapy in the Western world. (2013) (47)
The molecular epidemiology of Huntington disease is related to intermediate allele frequency and haplotype in the general population (2018) (47)
HIP12 is a non-proapoptotic member of a gene family including HIP1, an interacting protein with huntingtin (2000) (47)
Potent and sustained huntingtin lowering via AAV5 encoding miRNA preserves striatal volume and cognitive function in a humanized mouse model of Huntington disease (2019) (46)
Pridopidine stabilizes mushroom spines in mouse models of Alzheimer's disease by acting on the sigma-1 receptor (2019) (46)
A Huntingtin-based peptide inhibitor of caspase-6 provides protection from mutant Huntingtin-induced motor and behavioral deficits. (2015) (46)
Memory and synaptic deficits in Hip14/DHHC17 knockout mice (2013) (46)
Evidence from family studies that the gene causing Huntington disease is telomeric to D4S95 and D4S90. (1989) (46)
Common Genetic Variation in ABCA 1 Is Associated With Altered Lipoprotein Levels and a Modified Risk for Coronary Artery Disease (2001) (45)
Forskolin and dopamine D1 receptor activation increase Huntingtin's association with endosomes in immortalized neuronal cells of striatal origin (1999) (45)
MED-PED: An Integrated Genetic Strategy for Preventing Early Deaths (1996) (45)
Phenotypic correction of feline lipoprotein lipase deficiency by adenoviral gene transfer. (2000) (45)
Lack of association of the apolipoprotein A-I-C-III-A-IV gene XmnI and SstI polymorphisms and of the lipoprotein lipase gene mutations in familial combined hyperlipoproteinemia in French Canadian subjects. (1996) (45)
Genomic organization and complete sequence of the human gene encoding the β-subunit of the cGMP phosphodiesterase and its localisation to 4p16.3 (1991) (45)
NP03, a novel low-dose lithium formulation, is neuroprotective in the YAC128 mouse model of Huntington disease (2012) (44)
Identification of an Alu retrotransposition event in close proximity to a strong candidate gene for Huntington's disease (1993) (44)
IMPAIRED PROLACTIN RELEASE IN HUNTINGTON'S CHOREA EVIDENCE FOR DOPAMINERGIC EXCESS (1977) (44)
Predictive testing for Huntington's disease: the calm after the storm (2000) (44)
Human genetics of HDL: Insight into particle metabolism and function. (2015) (43)
The FDG/PET Methodology for Early Detection of Disease Onset: A Statistical Model (1991) (43)
Predictive testing for Huntington disease. (1992) (43)
Mapping of the epitope on lipoprotein lipase recognized by a monoclonal antibody (5D2) which inhibits lipase activity. (1992) (43)
Hunting human disease genes: lessons from the past, challenges for the future (2013) (43)
An Alu element retroposition in two families with Huntington disease defines a new active Alu subfamily. (1993) (43)
Pridopidine Induces Functional Neurorestoration Via the Sigma-1 Receptor in a Mouse Model of Parkinson’s Disease (2019) (43)
A novel Glu421Lys substitution in the lipoprotein lipase gene in pregnancy-induced hypertriglyceridemic pancreatitis. (1998) (42)
The genotype–phenotype correlation of hereditary multiple exostoses (2006) (42)
Cerebral metabolism of glucose in benign hereditary chorea (1986) (42)
Relationship between lipoprotein lipase and high density lipoprotein cholesterol in mice: modulation by cholesteryl ester transfer protein and dietary status. (1997) (42)
ABCA8 Regulates Cholesterol Efflux and High-Density Lipoprotein Cholesterol Levels (2017) (41)
A frequent mutation in the lipoprotein lipase gene (D9N) deteriorates the biochemical and clinical phenotype of familial hypercholesterolemia. (1999) (41)
Histone Deacetylase Inhibitors Protect Against Pyruvate Dehydrogenase Dysfunction in Huntington's Disease (2017) (41)
Preventing mutant huntingtin proteolysis and intermittent fasting promote autophagy in models of Huntington disease (2018) (40)
eEF2K inhibition blocks Aβ42 neurotoxicity by promoting an NRF2 antioxidant response (2016) (40)
Familial predisposition to recurrent mutations causing Huntington's disease: genetic risk to sibs of sporadic cases. (1993) (40)
Two naturally occurring mutations at the first and second bases of codon aspartic acid 156 in the proposed catalytic triad of human lipoprotein lipase. In vivo evidence that aspartic acid 156 is essential for catalysis. (1992) (40)
Comparing the Biological Impact of Glatiramer Acetate with the Biological Impact of a Generic (2014) (40)
Beyond the patient: The broader impact of genetic discrimination among individuals at risk of Huntington disease (2012) (40)
Managing genetic discrimination: Strategies used by individuals found to have the Huntington disease mutation (2007) (40)
The ‘flap’ endonuclease gene FEN1 is excluded as a candidate gene implicated in the CAG repeat expansion underlying Huntington disease (2001) (39)
Pridopidine protects neurons from mutant-huntingtin toxicity via the sigma-1 receptor (2019) (39)
To be or not to be toxic: aggregations in Huntington and Alzheimer disease. (2006) (39)
High frequency of intermediate alleles on huntington disease‐associated haplotypes in British Columbia's general population (2013) (38)
Structural and functional consequences of missense mutations in exon 5 of the lipoprotein lipase gene. (2002) (38)
Structural analysis of the 5' region of mouse and human Huntington disease genes reveals conservation of putative promoter region and di- and trinucleotide polymorphisms. (1995) (38)
Differences in the phenotype between children with familial defective apolipoprotein B-100 and familial hypercholesterolemia. (1997) (38)
A Clinical Tool for Reducing Central Nervous System Depression among Neonates Exposed to Codeine through Breast Milk (2013) (38)
Association Between SLC16A5 Genetic Variation and Cisplatin-Induced Ototoxic Effects in Adult Patients With Testicular Cancer (2017) (38)
Psychological effects of predictive testing for Huntington's disease. (1995) (38)
The origin of Huntington's chorea in the Afrikaner population of South Africa. (1980) (38)
Chapter 15 Juvenile amyotrophic lateral sclerosis. (2007) (38)
Early pridopidine treatment improves behavioral and transcriptional deficits in YAC128 Huntington disease mice. (2017) (38)
Striatal Synaptic Dysfunction and Hippocampal Plasticity Deficits in the Hu97/18 Mouse Model of Huntington Disease (2014) (38)
Impairment and Restoration of Homeostatic Plasticity in Cultured Cortical Neurons From a Mouse Model of Huntington Disease (2019) (38)
Adenosine-triphosphate-binding cassette transporter-1 trafficking and function. (2010) (37)
Analysis of Triplet Repeat Disorders (1998) (37)
Evidence for both the nucleus and cytoplasm as subcellular sites of pathogenesis in Huntington's disease in cell culture and in transgenic mice expressing mutant huntingtin. (1999) (37)
Diagnosis of Huntington disease: a model for the stages of psychological response based on experience of a predictive testing program. (1993) (37)
Identification and functional analysis of a naturally occurring E89K mutation in the ABCA1 gene of the WHAM chicken DOI 10.1194/jlr.M200223-JLR200 (2002) (37)
Common mutations in the lipoprotein lipase gene (LPL): effects on HDL-cholesterol levels in a Chinese Canadian population. (2001) (37)
Life Without Huntingtin (1999) (37)
Treatment with the MAO-A inhibitor clorgyline elevates monoamine neurotransmitter levels and improves affective phenotypes in a mouse model of Huntington disease (2016) (37)
Accurate determination of the number of CAG repeats in the Huntington disease gene using a sequence‐specific internal DNA standard (1999) (37)
Cerebrospinal fluid levels of orexin‐A are not a clinically useful biomarker for Huntington disease (2006) (36)
Intrinsic cleavage of receptor-interacting protein kinase-1 by caspase-6 (2012) (35)
Genomic organization of the human α-adducin gene and its alternately spliced isoforms (1995) (35)
Primary lipoprotein lipase deficiency. (1986) (35)
Mismatch PCR: a rapid method to screen for the Pro207-->Leu mutation in the lipoprotein lipase (LPL) gene. (1992) (35)
Evidence‐based genetic counselling implications for Huntington disease intermediate allele predictive test results (2014) (35)
Epidemiology of Huntington disease. (2017) (34)
Recurrent pancreatitis and chylomicronemia in an extended Dutch kindred is caused by a Gly154-->Ser substitution in lipoprotein lipase. (1993) (34)
The Asn9 variant of lipoprotein lipase is associated with the -93G promoter mutation and an increased risk of coronary artery disease. The Regress Study Group. (1998) (33)
Murine α-l-Iduronidase: cDNA isolation and expression (1994) (33)
Acidic and basic fibroblast growth factor-like immunoreactivity in the striatum and midbrain in Huntington's disease (1993) (33)
Bidirectional Control of Postsynaptic Density-95 (PSD-95) Clustering by Huntingtin* (2013) (33)
Genetic testing and Huntington's disease: issues of employment (2004) (32)
Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset (2012) (32)
Laquinimod treatment in the R6/2 mouse model (2017) (31)
A Role for Epsin N-terminal Homology/AP180 N-terminal Homology (ENTH/ANTH) Domains in Tubulin Binding* (2003) (31)
Inhibition of Excessive Monoamine Oxidase A/B Activity Protects Against Stress-induced Neuronal Death in Huntington Disease (2014) (31)
Mice lacking caspase-2 are protected from behavioral changes, but not pathology, in the YAC128 model of Huntington disease (2011) (31)
Cocaine adulterant linked to neutropenia (2010) (31)
Genotypic Approaches to Therapy in Children (2007) (31)
The human beta-subunit of rod photoreceptor cGMP phosphodiesterase: complete retinal cDNA sequence and evidence for expression in brain. (1992) (31)
Subregional assignment of the linked marker G8 (D4S10) for Huntington disease to chromosome 4p16.1-16.3. (1986) (31)
Expression and functional analyses of novel mutations of ATP-binding cassette transporter-1 in Japanese patients with high-density lipoprotein deficiency. (2002) (31)
HDL deficiency and atherosclerosis: lessons from Tangier disease (2004) (31)
“Grasping the Grey”: Patient Understanding and Interpretation of an Intermediate Allele Predictive Test Result for Huntington Disease (2013) (31)
The fatal attraction of polyglutamine‐containing proteins (1998) (30)
Segregation of LIPG, CETP, and GALNT2 Mutations in Caucasian Families with Extremely High HDL Cholesterol (2012) (30)
Hepatic ATP-Binding Cassette Transporter A1 Is a Key Molecule in High-Density Lipoprotein Cholesteryl Ester Metabolism in Mice (2006) (30)
Codeine-related deaths: The role of pharmacogenetics and drug interactions. (2014) (30)
A new mutation destroying disulphide bridging in the C-terminal domain of lipoprotein lipase. (1996) (30)
Enhanced immune response to MMP3 stimulation in microglia expressing mutant huntingtin (2016) (30)
Laquinimod dampens hyperactive cytokine production in Huntington's disease patient myeloid cells (2016) (30)
Predictive testing for Huntington's disease: a universal model? (2003) (30)
Insulin and IGF-1 regularize energy metabolites in neural cells expressing full-length mutant huntingtin (2016) (30)
A Quantitative Method for the Specific Assessment of Caspase-6 Activity in Cell Culture (2011) (30)
Hypoalphalipoproteinemia resembling fish eye disease. (2009) (29)
Structure-function relationships of lipoprotein lipase: mutation analysis and mutagenesis of the loop region. (1993) (29)
Prevalence, geographical distribution and genealogical investigations of mutation 188 of lipoprotein lipase gene in the French Canadian population of Québec (1992) (29)
Frameshift mutation in exon 3 of the lipoprotein lipase gene causes a premature stop codon and lipoprotein lipase deficiency. (1990) (29)
Sequence and expression of Tangier apoA-I gene. (1988) (29)
Cutaneous adverse drug reactions in children: an analysis of reports from the Canadian Pharmacogenomics Network for Drug Safety (CPNDS). (2011) (28)
Normal CAG repeat length in the Huntington's disease gene in senile chorea (1994) (28)
Identification of Binding Sites in Huntingtin for the Huntingtin Interacting Proteins HIP14 and HIP14L (2014) (28)
Cross-species characterization of the ALS2 gene and analysis of its pattern of expression in development and adulthood (2005) (28)
Pharmacogenomics of serious adverse drug reactions in pediatric oncology. (2011) (28)
The dynamics of macrophage infiltration into the arterial wall during atherosclerotic lesion development in low-density lipoprotein receptor knockout mice. (2011) (28)
Studies in persons at risk for Huntington's disease. (1987) (27)
Two novel mutations in apolipoprotein C3 underlie atheroprotective lipid profiles in families (2014) (27)
Huntington's chorea on the island of Mauritius. (1981) (27)
Interrupting sequence variants and age of onset in Huntington's disease: clinical implications and emerging therapies (2020) (27)
A polymorphic DNA marker that represents a conserved expressed sequence in the region of the Huntington disease gene. (1988) (27)
Palmitoylation of caspase-6 by HIP14 regulates its activation (2017) (27)
Higher frequency of genetic variants conferring increased risk for ADRs for commonly used drugs treating cancer, AIDS and tuberculosis in persons of African descent (2013) (27)
Further Investigation of the Role of ACYP2 and WFS1 Pharmacogenomic Variants in the Development of Cisplatin-Induced Ototoxicity in Testicular Cancer Patients (2018) (27)
Pharmacogenomics and its implications for autoimmune disease. (2007) (27)
A human huntingtin SNP alters post-translational modification and pathogenic proteolysis of the protein causing Huntington disease (2017) (27)
Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestries (1994) (26)
Nonrandom association between Huntington disease and two loci separated by about 3 Mb on 4p16.3. (1992) (26)
Communicating Pharmacogenetic Research Results to Breastfeeding Mothers Taking Codeine: A Pilot Study of Perceptions and Benefits (2010) (26)
Therapeutic modulation of the bile acid pool by Cyp8b1 knockdown protects against nonalcoholic fatty liver disease in mice (2018) (26)
Economic impact of a genetic test for cisplatin-induced ototoxicity (2011) (26)
Mycophenolate Mofetil and Atherosclerosis (2007) (26)
Origins and evolution of Huntington disease chromosomes. (1995) (26)
Are we all of one mind? Clinicians' and patients' opinions regarding the development of a service protocol for predictive testing for Huntington disease. Canadian Collaborative Study for Predictive Testing for Huntington Disease. (1995) (26)
Characterization of a lipoprotein lipase class III type defect in hypertriglyceridemic cats. (1990) (26)
Aberrant palmitoylation in Huntington disease. (2015) (26)
Truncation mutations in ABCA1 suppress normal upregulation of full-length ABCA1 by 9-cis-retinoic acid and 22-R-hydroxycholesterol Published, JLR Papers in Press, August 16, 2002. DOI 10.1194/jlr.M200277-JLR200 (2002) (26)
Psychiatric morbidity associated with early clinical diagnosis of Huntington disease in a predictive testing program. (1988) (25)
Laquinimod Treatment Improves Myelination Deficits at the Transcriptional and Ultrastructural Levels in the YAC128 Mouse Model of Huntington Disease (2018) (25)
Direct intracerebral delivery of a miR-33 antisense oligonucelotide into mouse brain increases brain ABCA1 expression (2015) (25)
Pharmacogenomics strategies to optimize treatments for multiple sclerosis: Insights from clinical research (2017) (25)
The high frequency of juvenile Huntington's chorea in South Africa (1982) (25)
Risk reversals in predictive testing for Huntington disease. (1997) (25)
Expression of LPL in Endothelial-Intact Artery Results in Lipid Deposition and Vascular Cell Adhesion Molecule-1 Upregulation in Both LPL and ApoE-Deficient Mice (2007) (25)
Different options for prenatal testing for Huntington's disease using DNA probes. (1989) (24)
Large-scale transcriptomic analysis reveals that pridopidine reverses aberrant gene expression and activates neuroprotective pathways in the YAC128 HD mouse (2018) (24)
Hemorheological abnormalities in lipoprotein lipase deficient mice with severe hypertriglyceridemia. (2006) (24)
Systematic interaction network filtering identifies CRMP1 as a novel suppressor of huntingtin misfolding and neurotoxicity (2015) (24)
Public Perceptions of Pharmacogenetics (2014) (24)
Application of principal component analysis to pharmacogenomic studies in Canada (2009) (24)
Alternate transcripts expressed in response to diet reflect tissue-specific regulation of ABCA1 Published, JLR Papers in Press, July 16, 2005. DOI 10.1194/jlr.M500133-JLR200 (2005) (24)
Laquinimod decreases Bax expression and reduces caspase-6 activation in neurons (2016) (24)
Summary of the 1993 ASHG ancillary meeting "recent research on chromosome 4p syndromes and genes". (1995) (24)
Protective up‐regulation of CK2 by mutant huntingtin in cells co‐expressing NMDA receptors (2007) (24)
Molecular genetics of human lipoprotein lipase deficiency (1992) (24)
Apnea and oxygen desaturations in children treated with opioids after adenotonsillectomy for obstructive sleep apnea syndrome: a prospective pilot study. (2012) (24)
Gene structure and map location of the murine homolog of the Huntington-associated protein, Hap1 (1998) (24)
A novel humanized mouse model of Huntington disease for preclinical development of therapeutics targeting mutant huntingtin alleles (2017) (24)
Heterozygosity for ABCA1 gene mutations: effects on enzymes, apolipoproteins and lipoprotein particle size. (2003) (24)
Apnea and Oxygen Desaturations in Children Treated with Opioids after Adenotonsillectomy for Obstructive Sleep Apnea Syndrome (2012) (24)
Clinical, Biochemical, and Molecular Characterization of Novel Mutations in ABCA1 in Families with Tangier Disease. (2014) (24)
Role of TPMT and COMT genetic variation in cisplatin‐induced ototoxicity (2014) (24)
A pharmacogenetic signature of high response to Copaxone in late-phase clinical-trial cohorts of multiple sclerosis (2017) (23)
ABCA1 deficiency and cellular cholesterol accumulation increases islet amyloidogenesis in mice (2016) (23)
The molecular genetics of Huntington's disease (1994) (23)
Detection of the Pro664‐Leu mutation in the low‐density lipoprotein receptor and its relation to lipoprotein(a) levels in patients with familial hypercholesterolemia of Dutch ancestry from The Netherlands and Canada (1992) (23)
Identification of four novel genes contributing to familial elevated plasma HDL cholesterol in humans[S] (2014) (23)
Mutant Huntingtin Is Cleared from the Brain via Active Mechanisms in Huntington Disease (2020) (22)
Prenatal diagnosis of asplenia/polysplenia syndrome. (1988) (22)
Pharmacogenomics and active surveillance for serious adverse drug reactions in children. (2010) (22)
The Sigma-1 Receptor Mediates Pridopidine Rescue of Mitochondrial Function in Huntington Disease Models (2021) (22)
When access is an issue: exploring barriers to predictive testing for Huntington disease in British Columbia, Canada (2012) (22)
Dilemmas of anonymous predictive testing for Huntington disease: privacy vs. optimal care. (1997) (22)
Loss of Both ABCA 1 and ABCG 1 Results in Increased Disturbances in Islet Sterol Homeostasis , In fl ammation , and Impaired b-Cell Function (2012) (22)
Linkage disequilibrium and modification of risk for Huntington disease. (1991) (22)
Patients' rights to laboratory data: trinucleotide repeat length in Huntington disease. (1996) (21)
A compound heterozygote for lipoprotein lipase deficiency, Val69-->Leu and Gly188-->Glu: correlation between in vitro LPL activity and clinical expression. (1994) (21)
Small molecule splicing modifiers with systemic HTT-lowering activity (2021) (21)
Pharmacogenomics of Cardiovascular Drugs and Adverse Effects in Pediatrics (2011) (21)
A yeast artificial chromosome-based physical map of the juvenile amyotrophic lateral sclerosis (ALS2) critical region on human chromosome 2q33-q34. (1999) (21)
Frequency of the loss of CAA interruption in the HTT CAG tract and implications for Huntington disease in the reduced penetrance range (2020) (21)
Geographic distribution and genealogy of mutation 207 of the lipoprotein lipase gene in the French Canadian population of Québec (1992) (21)
Age of onset in siblings of persons with juvenile Huntinqton disease (1985) (21)
Altered Regulation of Striatal Neuronal N-Methyl-D-Aspartate Receptor Trafficking by Palmitoylation in Huntington Disease Mouse Model (2019) (21)
The murine homologues of the Huntington disease gene (Hdh) and the alpha-adducin gene (Add1) map to mouse chromosome 5 within a region of conserved synteny with human chromosome 4p16.3. (1994) (20)
Sigma-1 and dopamine D2/D3 receptor occupancy of pridopidine in healthy volunteers and patients with Huntington disease: a [18F] fluspidine and [18F] fallypride PET study (2020) (20)
A Comprehensive Haplotype Targeting Strategy for Allele-Specific HTT Suppression in Huntington Disease. (2019) (20)
Identification of multiple CpG islands and associated conserved sequences in a candidate region for the Huntington disease gene. (1991) (20)
Many roads lead to atheroma (1995) (20)
The genomic organization of a novel regulatory myosin light chain gene (MYL5) that maps to chromosome 4p16.3 and shows different patterns of expression between primates. (1992) (20)
The search for mutations in the gene for the beta subunit of the cGMP phosphodiesterase (PDEB) in patients with autosomal recessive retinitis pigmentosa. (1992) (20)
Life-threatening adverse events following therapeutic opioid administration in adults: is pharmacogenetic analysis useful? (2013) (20)
Dyslipidemias associated with heterozygous lipoprotein lipase mutations in the French‐Canadian population (1998) (20)
TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease. (2012) (20)
Regression Model for Predicting Dissociations of Regional Cerebral Glucose Metabolism in Individuals at Risk for Huntington's Disease (1986) (19)
Targeted next-generation sequencing to diagnose disorders of HDL cholesterol[S] (2015) (19)
A missense mutation Pro157 Arg in lipoprotein lipase (LPLNijmegen) resulting in loss of catalytic activity. (1992) (19)
Plasma apolipoprotein AV levels in mice are positively associated with plasma triglyceride levels Published, JLR Papers in Press, January 13, 2009. (2009) (19)
Suppressing aberrant GluN3A expression rescues NMDA receptor dysfunction, synapse loss and motor and cognitive decline in Huntington's disease models (2013) (19)
Predictive testing for Huntington disease: are we ready for widespread community implementation? (1991) (19)
Post-translational myristoylation at the cross roads of cell death, autophagy and neurodegeneration. (2015) (19)
Lipoprotein lipase activity is associated with severity of angina pectoris. REGRESS Study Group. (2000) (18)
Genetic diversity of variants involved in drug response and metabolism in Sri Lankan populations: implications for clinical implementation of pharmacogenomics (2015) (18)
A whole brain longitudinal study in the YAC128 mouse model of Huntington’s disease shows distinct trajectories of neurochemical, structural connectivity and volumetric changes (2018) (18)
Hepatic ABCA1 Expression Improves β-Cell Function and Glucose Tolerance (2014) (18)
Efficient adenovirus-mediated ectopic gene expression of human lipoprotein lipase in human hepatic (HepG2) cells. (1997) (18)
Putative Association of ABCB1 2677G>T/A With Oxycodone-Induced Central Nervous System Depression in Breastfeeding Mothers (2013) (18)
Functional effects of the antigen glatiramer acetate are complex and tightly associated with its composition (2016) (18)
ABCA1 gene mutations, HDL cholesterol levels, and risk of ischemic heart disease. (2008) (18)
Huntington’s chorea in South Africa (1979) (17)
Psychosocial effects of predictive testing for Huntington's disease. (2005) (17)
Ethical issues in preclinical testing in Huntington disease: response to Margery Shaw's invited editorial comment. (1987) (17)
Factors associated with experiences of genetic discrimination among individuals at risk for huntington disease (2011) (17)
Gene environment interaction and plasma triglyceride levels: the crucial role of lipoprotein lipase (1994) (17)
Mapping of the human NMDA receptor subunit (NMDAR1) and the proposed NMDA receptor glutamate-binding subunit (NMDARA1) to chromosomes 9q34.3 and chromosome 8, respectively. (1993) (17)
Lessons from predictive testing for Huntington disease: 25 years on (2011) (17)
Sigma-1 Receptor (S1R) Interaction with Cholesterol: Mechanisms of S1R Activation and Its Role in Neurodegenerative Diseases (2021) (17)
Genetic aspects of Huntington's chorea: results of a national survey. (1982) (17)
Identification of a novel caspase cleavage site in huntingtin that regulates mutant huntingtin clearance (2017) (16)
Interactome network analysis identifies multiple caspase-6 interactors involved in the pathogenesis of HD. (2016) (16)
Genomic organization of the human caspase-9 gene on Chromosome 1p36.1-p36.3 (1999) (16)
Specific Mutations in ABCA 1 Have Discrete Effects on ABCA 1 Function and Lipid Phenotypes Both In Vivo and In Vitro (2006) (16)
Diet-induced atherosclerosis in the domestic cat. (1997) (16)
Quantification of Motor Function in Huntington Disease Patients Using Wearable Sensor Devices (2019) (16)
Issues in Molecular Genetic Testing of Individuals with Suspected Early‐onset Familial Alzheimer's Disease (1994) (16)
Sudden death due to paralysis and synaptic and behavioral deficits when Hip14/Zdhhc17 is deleted in adult mice (2016) (16)
Comparison of gemfibrozil and clofibrate on serum lipids in familial combined hyperlipidemia. A randomized placebo-controlled, double-blind, crossover clinical trial. (1988) (16)
Phenotypic variation of mutations in the human lipoprotein-lipase gene. (1993) (16)
Absence of stearoyl-CoA desaturase-1 does not promote DSS-induced acute colitis. (2009) (16)
Compound heterozygosity for a known and a novel defect in the lipoprotein lipase gene (Asp250-->Asn; Ser251-->Cys) resulting in lipoprotein lipase (LPL) deficiency. (1996) (16)
HIP 1 and HIP 12 Display Differential Binding to F-actin , AP 2 , and Clathrin (2002) (15)
A new mutation for Huntington disease following maternal transmission of an intermediate allele. (2015) (15)
Precise Mapping of the Brain α2-Adrenergic Receptor Gene within Chromosome 4p16 (1994) (15)
Pharmacogenomic diversity in Singaporean populations and Europeans (2014) (15)
The lipoprotein lipase Gly188----Glu mutation in South Africans of Indian descent: evidence suggesting common origins and an increased frequency. (1992) (15)
Ile225Thr loop mutation in the lipoprotein lipase (LPL) gene is a de novo event. (1998) (15)
Cerebral Glucose and Dopa Metabolism in Movement Disorders (1987) (15)
Genetic ablation of Cyp8b1 preserves host metabolic function by repressing steatohepatitis and altering gut microbiota composition. (2018) (15)
Intrachromosomal location of the telomeric repeat (TTAGGG)n (2004) (15)
Gene expression studies of a human monocyte cell line identify dissimilarities between differently manufactured glatiramoids (2015) (15)
Predictive testing for persons at risk for homozygosity for CAG expansion in the Huntington disease gene (2003) (15)
South African founder mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia in the Dutch population (1993) (14)
The Interaction of Aging and Cellular Stress Contributes to Pathogenesis in Mouse and Human Huntington Disease Neurons (2020) (14)
Laquinimod exerts strong clinical and immunomodulatory effects in Lewis rat experimental autoimmune neuritis (2014) (14)
Pridopidine reduces mutant huntingtin‐induced endoplasmic reticulum stress by modulation of the Sigma‐1 receptor (2021) (14)
Gene expression profiles complement the analysis of genomic modifiers of the clinical onset of Huntington disease (2019) (14)
The targetable A1 Huntington disease haplotype has distinct Amerindian and European origins in Latin America (2016) (14)
Huntington's chorea in the Cape coloured community of South Africa. (1977) (14)
HACE1 is essential for astrocyte mitochondrial function and influences Huntington disease phenotypes in vivo (2018) (14)
Altering cortical input unmasks synaptic phenotypes in the YAC128 cortico-striatal co-culture model of Huntington disease (2018) (14)
High density lipoprotein metabolism in low density lipoprotein receptor-deficient mice1[S] (2014) (14)
Isolation and characterization of new highly polymorphic DNA markers from the Huntington disease region. (1992) (14)
CAG repeat polymorphisms in KCNN3 (HSKCa3) and PPP2R2B show no association or linkage to schizophrenia (2003) (14)
Mapping of the gonadotropin-releasing hormone (GnRH) receptor gene to human Chromosome 4q21.2 by fluorescence in situ hybridization (1995) (13)
Physicochemical, biological, functional and toxicological characterization of the European follow-on glatiramer acetate product as compared with Copaxone (2018) (13)
Complete functional rescue of the ABCA1−/− mouse by human BAC transgenesis Published, JLR Papers in Press, March 16, 2005. DOI 10.1194/jlr.M400506-JLR200 (2005) (13)
A low-copy repeat located in subtelomeric regions of 14 different human chromosomal termini. (1991) (13)
Age-Dependent Resistance to Excitotoxicity in Htt CAG140 Mice and the Effect of Strain Background. (2012) (13)
Coupled Control of Distal Axon Integrity and Somal Responses to Axonal Damage by the Palmitoyl Acyltransferase ZDHHC17 (2020) (13)
Safety and Exploratory Efficacy at 36 Months in Open-HART, an Open-Label Extension Study of Pridopidine in Huntington's Disease. (2017) (13)
Physiologically regulated transgenic ABCA1 does not reduce amyloid burden or amyloid-beta peptide levels in vivo. (2007) (13)
Interaction of high density lipoprotein with adipocytes in a new patient with Tangier disease. (1987) (13)
Genetic linkage between Huntington disease and the D4S10 locus in South African families: further evidence against non-allelic heterogeneity (1991) (13)
Pathological association and dissociation of functional systems in multiple sclerosis and Huntington's disease. (1997) (12)
Huntingtin proteolysis in Huntington disease (2003) (12)
Effects of Pridopidine on Functional Capacity in Early-Stage Participants from the PRIDE-HD Study (2020) (12)
Assessment of French patients with LPL deficiency for French Canadian mutations. (1997) (12)
DAPK1 Promotes Extrasynaptic GluN2B Phosphorylation and Striatal Spine Instability in the YAC128 Mouse Model of Huntington Disease (2020) (12)
Predictive testing for Huntington's disease using linked DNA markers. (1988) (12)
Origin and migration of an Afrikaner founder mutation FHAfrikaner-2 (V408M) causing familial hypercholesterolemia. (1996) (12)
George Huntington: the man behind the eponym. (1993) (12)
Super-resolution imaging reveals extrastriatal synaptic dysfunction in presymptomatic Huntington disease mice (2021) (11)
Exclusion of DNA changes in the β–subunit of the c–GMP phosphodiesterase gene as the cause for Huntington's disease (1992) (11)
Currents in a Mouse Model of Huntington Disease-Methyl-d-Aspartate Receptor-Mediated Synaptic N Enhanced Striatal NR 2 B-Containing (2004) (11)
Reduced cholesteryl ester transfer in plasma of patients with lipoprotein lipase deficiency. (1996) (11)
Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington’s disease motor onset (2013) (11)
Additional Safety and Exploratory Efficacy Data at 48 and 60 Months from Open-HART, an Open-Label Extension Study of Pridopidine in Huntington Disease. (2020) (11)
Controlling for Cerebral Atrophy in Positron Emission Tomography Data (1987) (11)
Epiphyseal dysplasia, microcephaly, nystagmus, and retinitis pigmentosa. (1989) (11)
Enhanced lipolysis in normal mice expressing liver-derived human lipoprotein lipase after adenoviral gene transfer. (1998) (11)
Low Levels of Human HIP14 Are Sufficient to Rescue Neuropathological, Behavioural, and Enzymatic Defects Due to Loss of Murine HIP14 in Hip14−/− Mice (2012) (10)
(CA)n-dinucleotide repeat polymorphism at the locus for the alpha2C adrenergic receptor (ADRA2C) on 4p16. (1992) (10)
Pharmacogenomic screening for anthracycline‐induced cardiotoxicity in childhood cancer (2017) (10)
Inhibiting cellular uptake of mutant huntingtin using a monoclonal antibody: Implications for the treatment of Huntington's disease (2020) (10)
The fetal hydantoin syndrome. A case report. (1978) (10)
Constitutive ablation of caspase-6 reduces the inflammatory response and behavioural changes caused by peripheral pro-inflammatory stimuli (2018) (10)
Preclinical testing in Huntington disease. (1987) (10)
Cardiovascular disease in systemic lupus erythematosus: has the time for action come? (2005) (10)
Apolipoprotein CII-Padova (Tyr37-->stop) as a cause of chylomicronaemia in an Italian kindred from Siculiana. (1994) (10)
Genomic organization of the human alpha-adducin gene and its alternately spliced isoforms. (1995) (10)
Maternal expression of functional lipoprotein lipase and effects on body fat mass and body condition scores of mature cats with lipoprotein lipase deficiency. (2001) (10)
Homozygosity for a mutation in the lipoprotein lipase gene (Gly139→Ser) causes chylomicronaemia in a boy of Spanish descent (1994) (10)
A single Ser259Arg mutation in the gene for lipoprotein lipase causes chylomicronemia in Moroccans of Berber ancestry (1997) (10)
(CA)n-dinucleotide repeat at the PDEB locus in 4p16.3. (1993) (10)
Retroviral-mediated gene transfer and expression of human lipoprotein lipase in somatic cells. (1995) (9)
Nucleoporin POM121 signals TFEB-mediated autophagy via activation of SIGMAR1/sigma-1 receptor chaperone by pridopidine (2022) (9)
Efficacy, Safety, and Tolerability of Pridopidine in Huntington Disease (HD): Results from the Phase II, Double-blind, Placebo-controlled, Dose-Ranging Study, Pride-HD (P2.005) (2017) (9)
Rescue of aberrant huntingtin palmitoylation ameliorates mutant huntingtin-induced toxicity (2021) (9)
The palmitoyl acyltransferase HIP 14 shares a high proportion of interactors with huntingtin : implications for a role in the pathogenesis of Huntington ’ s disease (2014) (9)
Caspase-6-Resistant Mutant Huntingtin Does not Rescue the Toxic Effects of Caspase-Cleavable Mutant Huntingtin in vivo. (2012) (9)
Biophysical and biological characterization of hairpin and molecular beacon RNase H active antisense oligonucleotides. (2015) (9)
Delineation of a 50 kilobase DNA segment containing the recombination site in a sporadic case of Huntington's disease (1992) (9)
Genetic Markers of Cisplatin‐Induced Hearing Loss in Children (2014) (9)
Re: Autopsy‐proven Huntington's disease with 29 trinucleotide repeats (2008) (9)
Genomic organization and complete sequence of the human gene encoding the beta-subunit of the cGMP phosphodiesterase and its localisation to 4p 16.3. (1991) (9)
A systematic review and meta‐analysis of clinical variables used in Huntington disease research (2013) (9)
Huntington disease: A disorder of families (1991) (8)
Glucose intolerance and decreased early insulin response in mice with severe hypertriglyceridemia (2010) (8)
Q fever endocarditis: a report of 2 cases. (1978) (8)
The communication of pharmacogenetic research results: participants weigh in on their informational needs in a pilot study. (2011) (8)
Regulatory approval for new pharmacogenomic tests: a comparative overview. (2011) (8)
Developing a comprehensive, effective patient-friendly website to enhance decision making in predictive testing for Huntington disease (2012) (8)
Genetic epidemiology of lipoprotein lipase deficiency in Saguenay-Lac-St-Jean (Québec, Canada). (1992) (8)
Development of a broad-based ADME panel for use in pharmacogenomic studies. (2014) (8)
Activation of Caspase-6 Is Promoted by a Mutant Huntingtin Fragment and Blocked by an Allosteric Inhibitor Compound. (2019) (8)
Postpartum maternal codeine therapy and the risk of adverse neonatal outcomes: the devil is in the details. (2012) (8)
Is tetrabenazine safe and effective for suppressing chorea in Huntington's disease? (2006) (7)
Acute hypertriglyceridemic pancreatitis during pregnancy due to homozygous lipoprotein lipase gene mutation. (2009) (7)
A long term (ca 5 years) prospective assessment of psychological consequences of predictive testing for Huntington disease (HD) (1996) (7)
Familial defective apolipoprotein B-100 in hypercholesterolemic Chinese Canadians: identification of a unique haplotype of the apolipoprotein B-100 allele. (1997) (7)
Chromosomal localization of the Huntingtin Associated Protein (HAP-1) gene in mouse and humans with radiation hybrid and interspecific backcross mapping (1999) (7)
Pharmacogenomic investigation of adverse drug reactions(ADRs): the ADR prioritization tool, APT. (2013) (7)
A family with Huntington disease and reciprocal translocation 4;5. (1986) (7)
Bilateral renal agenesis in twins. (1985) (7)
A case of tangier disease with a novel mutation in the c‐terminal region of ATP‐binding cassette transporter A1 (2004) (7)
Monoamines and their metabolites in Huntington's disease brain: Evidence for decreased catechol-O-methyltransferase activity (1993) (7)
A 4 basepair deletion in exon 4 of the human lipoprotein lipase gene results in type I hyperlipoproteinemia. (1993) (7)
ABCA 1 in adipocytes regulates adipose tissue lipid content , glucose tolerance , and insulin sensitivity (2014) (7)
De novo Huntington disease caused by 26–44 CAG repeat expansion on a low-risk haplotype (2013) (7)
Length of uninterrupted CAG repeats, independent of polyglutamine size, results in increased somatic instability and hastened age of onset in Huntington disease (2019) (7)
Geographical distribution of haplotypes in Swedish families with Huntington's disease (1994) (6)
addendum: A one-hit model of cell death in inherited neuronal degenerations (2001) (6)
Linkage studies and mutation analysis of the PDEB gene in 23 families with leber congenital amaurosis (1992) (6)
pS421 huntingtin modulates mitochondrial phenotypes and confers neuroprotection in an HD hiPSC model (2020) (6)
Molecular Geography of Inherited Disorders of Lipoprotein Metabolism: Lipoprotein Lipase Deficiency and Familial Hypercholesterolemia (1992) (6)
Corrigendum to “Direct intracerebral delivery of a miR-33 antisense oligonucleotide into mouse brain increases brain ABCA1 expression’’ [Neuroscience Letters 598 (2015) 66–72] (2015) (6)
Enhanced atherothrombotic formation after oxidative injury by FeCl3 to the common carotid artery in severe combined hyperlipidemic mice. (2009) (6)
Tracing the mutated HTT and haplotype of the African ancestor who spread Huntington disease into the Middle East (2020) (6)
Support for founder effect for two lipoprotein lipase (LPL) gene mutations in French Canadians by analysis of GT microsatellites flanking the LPL gene (1993) (6)
Precise mapping of the brain alpha 2-adrenergic receptor gene within chromosome 4p16. (1994) (6)
Mitochondrial and redox modifications in early stages of Huntington's disease (2022) (6)
Experimental models of Huntington's disease (2005) (6)
Huntingtin interacting proteins 14 and 14-like are required for chorioallantoic fusion during early placental development. (2015) (6)
Erratum: Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm (1994) (5)
Response to Falush: a role for cis-element polymorphisms in HD. (2009) (5)
Human huntingtin-associated protein (HAP-1) gene: genomic organisation and an intragenic polymorphism. (2000) (5)
Human apolipoprotein mutants—Impact on atherosclerosis and longevity. (1987) (5)
The regression growth evaluation statin study (regress): Two frequently occuring mutations in the LPL-gene aggravates the dyslipidemia in cad-patients (1995) (5)
Methylation at the D4S95 locus and predictive testing. (1989) (5)
Cancer Pharmacogenomics in Children: Research Initiatives and Progress to Date (2013) (5)
Detection of the Pro664‐Leu mutation in the low‐density lipoprotein receptor and its relation to lipoprotein(a) levels in patients with familial hypercholesterolemia of Dutch ancestry from The Netherlands and Canada (1992) (5)
Compound heterozygosity for frameshift mutations in the gene for lipoprotein lipase in a patient with early‐onset chylomicronemia (1998) (5)
Cerebrospinal fluid mutant huntingtin is a biomarker for huntingtin lowering in the striatum of Huntington disease mice (2022) (5)
Reflections on the history of Huntington's chorea (1983) (5)
A polymorphic DNA probe located to human chromosome 4p16 (D4S62). (1987) (4)
Amelioration of Hypertriglyceridemia with Hypo-Alpha-Cholesterolemia in LPL Deficient Mice by Hematopoietic Cell-Derived LPL (2011) (4)
Interleukin-1α-converting enzyme (ICE) and related cell death genes ICErel-II and ICErel-III map to the same PAC clone at band 11q22.2-22.3 (1997) (4)
A frequently occurring mutation in the LPL gene contributes to the expression of FCH and FDL and aggravates dyslipidemia in these patients (1994) (4)
Neurodegeneration: Role of repeats in protein clearance (2017) (4)
MMF as an Immunomodulatory Silver Bullet in Atherogenesis (2006) (4)
Gene structure and map location of the murine homolog of the Huntington-associated protein , Hap 1 (4)
Gene-based therapeutic strategies for Human Lipoprotein Lipase (LPL) deficiency: Rationale and prospects for alteration of atherogenic risk (1996) (4)
Molecular Genetic Approaches to the Study of the Nervous System pp. 189–201 (1983) (4)
A polymorphic DNA marker at the D8S131 locus. (1991) (4)
Murine alpha-L-iduronidase: cDNA isolation and expression. (1994) (4)
Compromised IGF signaling causes caspase-6 activation in Huntington disease (2020) (4)
The genetics and molecular biology of apolipoprotein CII. (1986) (3)
Molecular Genetics of Lipoprotein Lipase Deficiency (1993) (3)
Response to “Evaluation of Pharmacogenetic Markers to Predict the Risk of Cisplatin‐Induced Ototoxicity” (2014) (3)
Reliable Resolution of Full-Length Huntingtin Alleles by Quantitative Immunoblotting. (2021) (3)
An analysis of mutations underlying lipoprotein lipase (LPL) deficiency in France (1994) (3)
Living with Huntington’s Chorea: The Social Perspective (1981) (3)
A de novo mutation in the lipoprotein lipase (LPL) gene causing LPL deficiency (1994) (3)
40. Correction of Dyslipidemia in Murine and Feline Models of Lipoprotein Lipase Deficiency by Intramuscular Administration of AAV1-LPLS447X (2004) (3)
Hereditary late-onset chorea without significant dementia: Genetic evidence for substantial phenotypic variation in Huntington’s disease (2019) (3)
The metabolic phenotype of SCD1-deficient mice is independent of melanin-concentrating hormone (2010) (3)
The interaction of aging and oxidative stress contributes to pathogenesis in mouse and human Huntington disease neurons (2019) (3)
Personalized Medicine: Temper Expectations—Response (2012) (3)
Allelic variation in the promoter region of the LDL receptor gene: analysis of an African-specific variant in the FP2 cis-acting regulatory element. (2003) (3)
Urinary proteins in a patient with Tangier disease. (1985) (3)
A43 Intrinsic mutant HTT-mediated defects in oligodendroglia cells contribute to myelin deficits and behavioural abnormalities in huntington disease (2018) (3)
Insurance and the presymptomatic diagnosis of delayed-onset disease. (1989) (3)
Molecular genetics and Huntington's disease. The South African situation. (1987) (3)
Molecular pathogenesis of Huntington's disease: The role of excitotoxicity (2006) (3)
4P-1046 Restoration of endothelial function by increasing HDL in subjects with isolated low-HDL (2003) (2)
Axonal ER Ca2+ Release Enhances Miniature, but Reduces Activity-Dependent Glutamate Release in a Huntington Disease Model (2020) (2)
In vitro mutagenesis studies defining residues of lipoprotein lipase critical for mediation of the binding of lipoproteins to the LDL receptor-related protein (LRP) (1994) (2)
Characterization of subventricular zone-derived progenitor cells from mild and late symptomatic YAC128 mouse model of Huntington's disease. (2018) (2)
Localization of the cell death genes CPP32 and Mch-2 to human Chromosome 4q (2009) (2)
Mycophenolate mofetil as an immunomodulatory silver bullet in atherogenesis? (2006) (2)
Direct intracerebral delivery of a miR-33 antisense oligonucleotide into mouse brain increases brain ABCA1 expression (vol 598, pg 66, 2015) (2015) (2)
Molecular characterization of a colony of cats with lipoprotein lipase deficiency (LPL) reveals a mutation that impairs catalytic activity and interaction with the LDL receptor-related protein (LRP) (1994) (2)
Gaucher's disease in the Cape coloured population of the RSA, including a family with 5 affected siblings. (1987) (2)
Linkage of the G8 marker on chromosome 4 to Huntington's disease in a large American black family. (1986) (2)
Regional cerebral glucose metabolism in huntington's disease: A statistical investigation (1994) (2)
I01 QRX-704, a novel antisense oligonucleotide therapy, designed to prevent hd pathology while maintaining htt function (2018) (2)
In search of a genetic explanation for LDLc variability in an FH family: common SNPs and a rare mutation in MTTP explain only part of LDL variability in an FH family[S] (2019) (2)
A polymorphic DNA marker at the D10S106 locus. (1991) (2)
Feeding schedule and proteolysis regulate autophagic clearance of mutant huntingtin (2017) (2)
Haploinsufficiency of CYP8B1 associates with increased insulin sensitivity in humans (2022) (2)
Diagnostic Testing for Vaccinomics: Is the Regulatory Approval Framework Adequate? A Comparison of Canada, the United States, and Europe (2011) (2)
Genetic and Phenotypic Heterogeneity in Familial Lecithin : Cholesterol Acyltransferase ( LCAT ) Deficiency (2013) (2)
Potent and selective antisense oligonucleotides targeting single-nucleotide polymorphisms in the Huntington disease gene / allele-specific silencing of mutant (2018) (2)
Spontaneous Axonal ER Ca2+ Waves Mediate A Shift From Action Potential-Dependent to Independent Glutamate Release in the YAC128 HD-Model (2020) (2)
The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis (2001) (2)
Table 2. [Categories of Huntington Disease (HD) Diagnosis]. (2014) (1)
Peripheral and cerebral metabolic features in an animal model of Huntington's disease (2010) (1)
The dynamics of macrophage infiltration into the arterial wall during atherosclerotic lesion development in LDL receptor knockout mice (2011) (1)
Restoration of c-Src/Fyn proteins rescues mitochondrial dysfunction in Huntington's Disease. (2022) (1)
Mutations in ABCA8 underlie reduced plasma high density cholesterol levels in humans (2015) (1)
Abstract 155: Mutations In ABCA8 Result In HDL Deficiency And Cholesterol Efflux Defects (2013) (1)
Developmental Biology: Frontiers for Clinical Genetics (2014) (1)
F41 The proof-hd phase 3 study: pridopidine’s outcome on function in huntington disease (PROOF) (2021) (1)
Polyglutamine diseases and the risk of cancer. (2012) (1)
A04 Caspase 6 resistant mutant huntingtin does not rescue the toxic effects of caspase cleavable mutant huntingtin in vivo (2010) (1)
H06 Cross sectional and longitudinal 3T magnetic resonance spectroscopy in a TRACK-HD cohort of individuals with premanifest and early Huntington's disease (2010) (1)
High-Resolution 3 D MRI to Identify Neurodegeneration in a Huntington Disease Mouse Model Brain (2005) (1)
Compound Heterozygosity for Frameshift Mutations in the Gene for Lipoprotein Lipase in a Patient nset Chylomicronernia (1998) (1)
Multifactorial Prediction of Anthracycline-Induced Cardiotoxicity in Childhood Cancer: 10 Years of Active Surveillance and Pharmacogenomics Studies at the Canadian Pharmacogenomics Network for Drug Safety (2017) (1)
907. Gene Therapy for Genetic Lipoprotein Lipase (LPL) Deficiency; an Update (2005) (1)
Rationale and Design for LEGATO-HD Study: A Multinational, Randomized, Double-blind, Placebo-controlled, Parallel Group Study to Evaluate the Efficacy and Safety of Laquinimod (0.5, 1.0, and 1.5 mg/day) as Treatment in Patients with Huntington Disease. (2016) (1)
Economic impact of a genetic test for cisplatin-induced ototoxicity (2012) (1)
Retroviral-mediated gene transfer and expression of human lipoprotein lipase (LPL) in somatic cells (1994) (1)
Heterozygous lipoprotein lipase (LPL) deficiency: lipid and apolipoprotein composition of lipoproteins suggest increased risk for coronary heart disease (1994) (1)
Large-scale transcriptomic analysis reveals that pridopidine reverses aberrant gene expression and activates neuroprotective pathways in the YAC128 HD mouse (2018) (1)
Down's syndrome and Alzheimer's disease (1984) (1)
Response to the Letter-to-the Editor by Cohen et al. concerning our eNeurologicalSci article, Melamed-Gal, et al. Physicochemical, biological, functional and toxicological characterization of the European follow-on glatiramer acetate product as compared with Copaxone. eNeurologicalSci 2018;12:19–30. (2018) (1)
FASA-57 cDNA shares no homology with coding sequence of HD gene. (2006) (1)
Author Correction: Laquinimod treatment in the R6/2 mouse model (2019) (1)
In vitro and in vivo models for Huntington disease: lessons for the polyglutamine expansion disorders. (1998) (1)
Deficits of pyruvate dehydrogenase and mitochondrial dysfunction in Huntington's disease — role of histone deacetylase inhibitors (2014) (1)
UvA-DARE ( Digital Academic Repository ) A single Ser 259 Arg mutation in the gene for lipoprotein lipase causes chylomicronemia in Moroccans of Berber ancestry (1997) (1)
Comment on Rickels et al. Loss-of-Function Mutations in ABCA1 and Enhanced β-Cell Secretory Capacity in Young Adults. Diabetes 2015;64:193–199 (2015) (1)
NEUROBIOLOGY OF DISEASE Neuroprotective Function of the PGE 2 EP 2 Receptor in Cerebral Ischemia (2003) (1)
SORFIND: A computer program that predicts exons in vertebrate genomic DNA (1993) (1)
Genotypic Approaches to Therapy in Children (GATC): using information technology to improve drug safety. (2009) (1)
Lipoprotein profiles in transgenic mice expressing human lipoprotein lipase on a regular and high fat diet (1994) (1)
The new Clinical Genetics: towards the millennium (1998) (1)
P3-377: A novel pathogenic pathway of immune activation detectable before cinical onset in Huntington's disease (2008) (1)
B13 NP03, a low dose lithium microemulsion, improves motor function and rescues striatal pathology without toxicity in the YAC128 mouse model of Huntington's disease (2010) (1)
Response to the Letter by Ebara et al (2008) (1)
Physicochemical and Biological Characterization of both Copaxone and the European Follow-On Glatiramer Acetate Product (P1.400) (2018) (1)
The Role of the ABCA 1 Transporter and Cholesterol Efflux in Familial Hypoalphalipoproteinemia Short title : ABCA 1 and Familial (2003) (1)
Mutation Screening of the ALS 2 Gene in Sporadic and Familial Amyotrophic Lateral Sclerosis (2003) (1)
I2 Huntington’s disease reduced penetrance alleles occur at high frequency and affect age-related increases in prevalence (2016) (1)
Update on genetics of Huntington's disease: availability of direct and accurate predictive test (1996) (1)
Abstract: P483 MYCOPHENOLATE MOFETIL ATTENUATES PLAQUE INFLAMMATION IN PATIENTS WITH SYMPTOMATIC CAROTID ARTERY STENOSIS (2009) (0)
Insufficient evidence to invoke defects in or around the A-I gene as the cause for familial hypoalphalipoproteinemia. (1987) (0)
Poster abstractThe REGRESS candidate gene phenotyping study: variation in the LPL gene contributes to LPL activity and HDL levels (1994) (0)
Analysis of DNA changes in the gene for lipoprotein lipase in patients with familial combined hyperlipidemia (1994) (0)
The REGRESS candidate gene phenotyping study. TaqIB and MspI RFLPs in the CETP gene influence HDL levels in CHD patients (1994) (0)
Cholestyramine tablets, a new option in the treatment of hypercholesterolemia (1994) (0)
Triglycerides in Lipoprotein Lipase Lowers S447X Intramuscular Administration of AAV1-Lipoprotein Lipase (2011) (0)
Loss of the Sigma-1 receptor disrupts pridopidine-induced gene expression (P4.048) (2018) (0)
Mutant Frizzled-4 (FZD4) Causes Autosomal Dominant Familial Exudative Vitreoretinopathy (FEVR) With Variable Intrafamilial Phenotype (2003) (0)
Dominant Negative Effect of Truncated ATP-Binding Cassette Transporter-1 Mutations on the Clinical Phenotypes and Cellular Cholesterol Efflux in the Heterozygotes (2003) (0)
Author response: Huntington disease reduced penetrance alleles occur at high frequency in the general population (2017) (0)
Abc1 polypeptides and methods and reagents for the modulation of cholesterol content (2000) (0)
Dan Roden, Nashville, USA - Vanderbilt and North American experience of opportunities and challenges of pharmacogenomics and personalized medicine and of their clinical implementation (2015) (0)
3893 Characterization of age-dependent brain atrophy in presymptomatic YAC 128 Huntington disease mice (2013) (0)
Clinical Phenotype of Familial Hypercholesterolemia A Frequent Mutation in the Lipoprotein Lipase Gene ( D 9 N ) Deteriorates the Biochemical (1999) (0)
Treatment with lipoprotein lipase (LPL) variant (2000) (0)
Hunting human disease genes: lessons from the past, challenges for the future (2013) (0)
Absence of the bile acid enzyme CYP8B1 increases brain chenodeoxycholic acid and reduces neuronal excitotoxicity in mice (2022) (0)
Rekombinatie virus, their production and their use in gene therapy (1995) (0)
RECURRENT ALTERATION IN CHOLESTEROL BIOSYNTHESIS IN R6/2, YAC AND KIN MICE, HD RATS AND PRIMARY CELLS FROM HD MICE (2017) (0)
Potent, Gut-Restricted Inhibitors of Divalent Metal Transporter 1 (DMT1): Preclinical Efficacy Against Iron Overload and Safety Evaluation (2022) (0)
Mycophenolate mofetil and animal models (2006) (0)
Th-P15:223 Both hepatic and extrahepatic ABCA1 are essential for the maintenance of plasma HDL-C levels in vivo (2006) (0)
2P-0452 A genetic, biochemical and proteomic approach to dissection of inherited HDL phenotypes in humans (2003) (0)
Full-length huntingtin is palmitoylated at multiple sites and post-translationally myristoylated following caspase-cleavage (2023) (0)
Altering cortical input unmasks synaptic phenotypes in the YAC128 cortico-striatal co-culture model of Huntington disease (2018) (0)
The vision: from mechanisms in mice to therapies in humans (2009) (0)
M03 Complete Huntingtin Haplotypes For Allele-specific Silencing (2014) (0)
High density lipoprotein metabolism in low density lipoprotein receptor-defi cient mice 1 (0)
A human huntingtin SNP alters post-translational modification and pathogenic proteolysis of the protein causing Huntington disease (2018) (0)
Regulation of huntingtin palmitoylation and its role in Huntington Diseases (2007) (0)
Axonal ER Ca2+ Release Selectively Enhances Activity-Independent Glutamate Release in a Huntington Disease Model. (2023) (0)
A PET-CT study on neuroinflammation in Huntington’s disease patients participating in a randomized trial with laquinimod (2023) (0)
IGF-1 Intranasal Administration Rescues Huntington's Disease Phenotypes in YAC128 Mice (2013) (0)
Evaluation of Hippocampal Neurogenesis in YAC128 Huntington’s Disease Transgenic Mice (2009) (0)
Targeting the Sigma-1 Receptor via Pridopidine Ameliorates Central Features of ALS Pathology in a SOD1G93A Model (2019) (0)
Comparative Mitochondrial-Based Protective Effects of Resveratrol and Nicotinamide in Huntington’s Disease Models (2016) (0)
O1-03-07 ABCA1 modulates APOE levels in brain and plasma (2004) (0)
Environmental modulation of an identical genotypic defect (Val408 → Met) in FH patients from a single family living in different countries (1994) (0)
JNMA article helps doctors treat diabetic patients. (2002) (0)
Laquinimod treatment in the R6/2 mouse model (2017) (0)
I09 Antibodies inhibit cell to cell transmission of mutant HTT (2018) (0)
Author Correction: Laquinimod treatment in the R6/2 mouse model (2019) (0)
Abstract 1027: Critical Role of ATP-binding Cassette Transporter A1 (ABCA1) in Beta-Cell Function and Glucose Homeostasis (2006) (0)
M07 Examining Conditional Caspase-6 Deficiency As A Therapeutic In Huntington Disease (2014) (0)
Longitudinal DTI reveals presymptomatic white matter changes in YAC 128 mouse model of Huntington disease (2013) (0)
Current Trends in Research (1981) (0)
Laquinimod Treatment Improves Myelination Deficits at the Transcriptional and Ultrastructural Levels in the YAC128 Mouse Model of Huntington Disease (2018) (0)
Special new feature in Clinical Genetics (2013) (0)
Oral Session II‐A (OII‐A) (2008) (0)
Age and residuel cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA 1 heterozygotes (2000) (0)
A schematic diagram of the two hypothetical binding scenarios of HTT with HIP14 or HIP14L. (2014) (0)
Predictive medicine: Identifying genetic risks before onset of symptoms (1995) (0)
in Lipoprotein Lipase Lowers Triglycerides S447X Intramuscular Administration of AAV1-Lipoprotein Lipase (2013) (0)
2.W13.1 Molecular genetics as tools to redefine the clinics of lipoprotein disorders: The example of lipoprotein lipase deficiency (1997) (0)
L6 Evaluation of pridopidine in the transgenic yac128 mouse model of huntington’s disease (2016) (0)
Predicting Anthracycline‐induced Cardiotoxicity in Children – Genome‐Wide Association Study (2013) (0)
IP-0038 A novel apoA-I mutation (Leu178Pro), identified by whole genome linkage approach, predisposes to endothelial dysfunction, increased arterial wall thickness and premature coronary artery disese (2003) (0)
Palmitoylation of caspase-6 by HIP14 regulates its activation (2016) (0)
Frequency of the loss of CAA interruption in the HTT CAG tract and implications for Huntington disease in the reduced penetrance range (2020) (0)
1.P.265 Phenotypic variation in familial hypercholesterolemia: A comparison of Chinese patients heterozygous for the same or similar mutations in the low density lipoprotein-receptor gene living in China or Canada (1997) (0)
Multiple Brain Effects of Pridopidine in Huntington Disease Patients and Healthy Volunteers - A Simultaneous Sigma-1 Receptor PET/MRI Study (2020) (0)
We-W37:4 Increased activity of ABCA1 protects against atherosclerosis (2006) (0)
Sudden death due to paralysis and synaptic and behavioral deficits when Hip14/Zdhhc17 is deleted in adult mice (2016) (0)
Brain behavior relationship in wild-type mice and a mouse model of Huntington ’ s disease (2009) (0)
Table 3. [Selected HTT Allelic Variants]. (2014) (0)
Table 1. [Summary of Molecular Genetic Testing Used in Huntington Disease]. (2014) (0)
The REGRESS candidate gene phenotyping study. Does apo E genotype influence risk for CHD (1994) (0)
Long-term efficacy and tolerability of simvastatin in the elderly (1994) (0)
L5 Pre-clinical evaluation of aav5-mihtt gene therapy of huntington’s disease in rodents (2016) (0)
P1-053 Alzheimer’s disease neuropathology is not mitigated by the physiological expression of human ABCA1 in APP/PS1 mice (2006) (0)
Novel ApoA-l Mutation ( L 178 P ) leads to endothelial dysfunction , increased arterial wall thickness and premature coronary artery disease (2009) (0)
B38 Excessive Monoamine Oxidase A/b Activity Contributes To Stress-induced Neuronal Death In Huntington Disease (2014) (0)
A pharmacogenetic signature of high response to Copaxone in late-phase clinical-trial cohorts of multiple sclerosis (2017) (0)
Mutant Huntington interaction with DRP1 impairs the mitochondrial fission and fusion balance and mediates neuronal injury (2011) (0)
Implementation and Validation of a Biometric Solution for Remote Monitoring of Motor Symptoms in Patients with Huntington’s Disease in a Phase II Clinical Trial (P2.013) (2017) (0)
Mo-W5:2 A gene therapy approach to treat human lipoprotein lipase deficiency (2006) (0)
Huntingtin expression influences spontaneous seizure disorder susceptibility in FVN/B mice (2022) (0)
Predictive Testing for Huntington Disease: Lessons for Other Adult Onset Disorders (1996) (0)
Social Perspectives in Huntington ' s Chorea 20 l (2008) (0)
Assessment ofFrench patients withLPL deficiency forFrench Canadian mutations (1997) (0)
The impact of partial and complete loss of function mutations in endothelial lipase on hdl levels and functionality in humans (2018) (0)
Trial watch: NeuroSearch's dopaminergic stabilizer improves movement disorders in Huntington's disease (2010) (0)
A Genome-wide Analysis of Severe Cutaneous Adverse Drug Reactions to Anti-epileptic Drugs (2017) (0)
1.W05.3 Common mutations in the lipoprotein lipase gene influence plasma lipids and prevalence of coronary heart disease (1997) (0)
Gene Expression Studies Comparing Glatiramer Acetate and Proposed Generics (P1.212) (2014) (0)
Genetic factors in atherosclerosis: Approaches and model systems (1990) (0)
A novel microdeletion affecting the CETP gene raises HDL‐associated cholesterol levels (2016) (0)
Oral Session II‐C (OII‐C) (2012) (0)
Clarity is essential when using nucleotide number systems. (2003) (0)
4WS26-2 Functional effects of tissue-specific expression of ATP-cassette transporter A1(ABCA1) provide multiple mechanisms for protection against against atherosclerosis (2003) (0)
Genomic organization and complete sequence of the human gene encoding the 3-subunit of the cGMP phosphodiesterase and its localisation to 4 p 16 . 3 (2004) (0)
696. Pre-Clinical Evaluation of Allele-Specific Mutant Huntingtin Gene Silencing Antisense Oligonucleotides (2015) (0)
Obituary: Michael Smith (1932–2000) (2000) (0)
416 THE CONTRIBUTION OF HEPATIC ADENOSINE TRIPHOSPHATE-BINDING CASSETTE TRANSPORTER, ABCA1, TO HIGH-DENSITY LIPOPROTEIN CHOLESTEROL LEVELS IN VIVO. (2004) (0)
Erratum: Huntington's disease-like 2 (HDL2) in North America and Japan (Annals of Neurology (November 2004) 56 (670-674)) (2004) (0)
Gene experession in brain (1986) (0)
Editorial Board and Contents (2015) (0)
An investigation of morphine‐to‐codeine metabolic ratios in postmortem blood, drug interactions, and cytochrome P450 2D6 (CYP2D6) genotype (2013) (0)
Author Response Re: Huntington Disease: Intermediate CAG Repeats (2018) (0)
B12 Treatment with arimoclomol does not lead to rescue of motor or striatal deficits in the YAC128 mouse model of Huntington's disease (2010) (0)
Allele-specific quantitation of ATXN3 and HTT transcripts in polyQ disease models (2023) (0)
A common alteration in the LPL gene resulting in altered lipoprotein levels. (1996) (0)
Molecular Genetic Approaches to the Study of the Nervous System pp. 202–214 (1983) (0)
The gene causing familial hypoalphalipoproteinemia is not caused by a defect in the apo AI-CIII-AIV gene cluster in a Spanish family (1990) (0)
L8 Laquinimod rescues striatal, cortical and white matter pathology and results in modest behavioural improvements in the YAC128 model of huntington’s disease (2016) (0)
Thehighfrequency ofjuvenile Huntington's chorea inSouth Africa (1982) (0)
Predicting cisplatin-induced ototoxicity in testicular germ cell cancer. (2010) (0)
M08 Laquinimod Reduces Neuronal Caspase-6 Activation And Axonal Degeneration In Vitro (2014) (0)
Abstract W P205: Specific Deficiency of Brain ABCA1 Increases Inflammation and White Matter Damage and Worsens Functional Outcome After Stroke (2014) (0)
using DNA probes . testing for Huntington ' s disease Different options for prenatal (0)
Cholesterol toxicity in pancreatic islets from LDL receptor-deficient mice. Reply to: de Souza JC, de Oliveira CAM, Carneiro EM et al. [letter] (2010) (0)
2P-0443 Macrophage ABCA1 overexpression inhibits atherosclerotic lesion progression (2003) (0)
B42 Early olfactory behaviour deficits associated with olfactory bulb atrophy and caspase-8 activation in HD rodent models (2016) (0)
Investigation of French Canadian founder mutations for lipoprotein lipase deficiency (LPL) in France (1994) (0)
Preventing mutant huntingtin proteolysis and intermittent fasting promote autophagy in models of Huntington disease (2018) (0)
Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington’s disease motor onset (2013) (0)
Pharmacogenetics of warfarin safety and effectiveness in children (2013) (0)
Binding (ENTH/ANTH) Domains in Tubulin Homology/AP180 N-terminal Homology A Role for Epsin N-terminal Developmental Biology: Molecular Basis of Cell and (2013) (0)
P218 TWO NOVEL GENETIC LOCI FOR HIGH AND LOW PLASMA HDL-C LEVELS IN 2 LARGE FAMILIES FROM DUTCH ANCESTRY (2010) (0)
Subject Index Vol. 57, 1991 (1991) (0)
Genetics, hyperlipidemia and atherosclerosis: an update (1990) (0)
Targeted next-generation sequencing to diagnose disorders of HDL cholesterol patient-oriented and epidemiological research (2020) (0)
Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset (2012) (0)
Integrated Transcriptomic and Physicochemical Characterization of Glatiramer Acetate Products (Copaxone and Glatopa) Available in the United States (P1.370) (2018) (0)
GENOTYPE-PHENOTYPE CORRELATION IN HEREDITARY MULTIPLE EXOSTOSES IN BRITISH COLUMBIA (2005) (0)
The Huntington disease predictive testing experience in British Columbia, Canada [Conference Abstract] (2009) (0)
Antisense oligonucleotide-mediated inhibition of miR-33 in cultured neurons, astrocytes and microglia: Effects on ABCA1 expression, APOE lipidation, cellular cholesterol and beta-amyloid neurotoxicity (2013) (0)
Reply to Dr. Kessler (1993) (0)
2P-0445 Biochemical characterization of mutations in ABCA1 correlate with disease severity (2003) (0)
Molecular genetic approaches to the study of the nervous system. (1983) (0)
Tu-W23:4 Hepatic ABCA1 is a key molecule in HDL cholesteryl ester metabolism in mice (2006) (0)
Progressive neuroanatomical changes in the YAC 128 mouse model of Huntington ’ s Disease (2008) (0)
Familial predisposition torecurrentmutations causing Huntington's disease: genetic risk tosibs ofsporadic cases (1993) (0)
Huntingtin Over-Expression Does Not Alter Overall Survival in Murine Cancer Models (2022) (0)
W10-IS-001 Role of ABCA1 and SR-BI in cholesterol transport and atherosclerosis (2005) (0)
The genetic aspects of atherosclerosis and hyperlipidemia. (1989) (0)
I13 Pridopidine restores mitochondrial function and decreases er stress which is mediated through the S1R (2021) (0)
Mo-W8:4 Critical role of ATP-binding cassette transporter A1 (ABCA1) in beta-cell function and glucose homeostasis (2006) (0)
Cerebrospinal fluid biomarkers for assessing Huntington disease onset and severity (2022) (0)
50 A humanized BAC transgenic/knockout mouse model for human caspase-12 polymorphism (2008) (0)
Effect of concurrent LDL receptor gene and LPL gene mutations on LDL particles size, density and lipid composition (1999) (0)
Genetic Variation in SLC16A5 Confers Protection from Cisplatin-Induced Ototoxicity in Adult Testicular Cancer Patients (2017) (0)
Figure 1. [Natural history of Huntington disease...]. (2014) (0)
908. Evaluation of the Sleeping Beauty Transposon System in OTC Deficient Spf-Ash Mice: A Non-Viral Approach to a Cell Autonomous Metabolic Disease (2005) (0)
Inhibition of Excessive Monoamine Oxidase A/B Activity Protects Against Stress-induced Neuronal Death in Huntington Disease (2014) (0)
Procedes d'identification d'agents therapeutiques de traitement de maladies impliquant le gene (2002) (0)
Abstract 831: Selective Deficiency of Hepatic ABCA1 Results in Increased Susceptibility to Atherosclerosis (2006) (0)
Abstract 620: Identification of Novel ABCA1 Mutations in Families With Tangier Disease (2014) (0)
Genealogy and Geographic Distribution (1981) (0)
HDL and Coronary Artery Disease A Novel ApoA-I Mutation (L178P) Leads to Endothelial Dysfunction, Increased Arterial Wall Thickness, and Premature Coronary Artery Disease (2004) (0)
B42 Huntington Disease and Olfactory Dysfunction: Structural Abnormalities of the Olfactory System and Early Caspase Activation in the Olfactory Bulb are Observed in HD Mouse Models (2014) (0)
Constitutive ablation of caspase-6 reduces the inflammatory response and behavioural changes caused by peripheral pro-inflammatory stimuli (2018) (0)
Gene therapy with lipoprotein lipase variant S447X - Response (2006) (0)
Clinical Management of Huntington’s Disease: The Role of Pet and DNA Linkage Studies (2019) (0)
E32 A 36 Month Longitudinal Magnetic Resonance Spectroscopy Study In Pre-manifest And Early Huntington Disease Subjects From The Track-hd Study (2014) (0)
The fetal alcohol syndrome. (1978) (0)
New Books (2007) (0)
DNA testing for Huntington disease results in a modification of risk and not diagnosis of disease (1990) (0)
Neuroprotective Effects of Laquinimod in Lewis Rat Experimental Autoimmune Neuritis (P4.107) (2015) (0)

This paper list is powered by the following services:

Other Resources About Michael R. Hayden

en.wikipedia.org

What Schools Are Affiliated With Michael R. Hayden?

Michael R. Hayden is affiliated with the following schools:

Image Attributions

Image Source for Michael R. Hayden