Peter Henry St. George-hyslop

Peter Henry St. George-hyslop's AcademicInfluence.com Rankings

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#13585

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#8461

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Peter Henry St. George-hyslop

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#13680

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#17235

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#1638

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#2413

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#2564

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Peter Henry St. George-hyslop'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

Association of apolipoprotein E allele ϵ4 with late‐onset familial and sporadic Alzheimer's disease (1993) (2765)
TREM2 variants in Alzheimer's disease. (2013) (2173)
Common variants in MS4A4/MS4A6E, CD2uAP, CD33, and EPHA1 are associated with late-onset Alzheimer’s disease (2011) (1656)
Amyloid beta protein gene: cDNA, mRNA distribution, and genetic linkage near the Alzheimer locus. (1987) (1493)
Analysis of shared heritability in common disorders of the brain (2016) (1385)
The genetic defect causing familial Alzheimer's disease maps on chromosome 21. (1987) (1180)
Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease (2017) (693)
ALS/FTD Mutation-Induced Phase Transition of FUS Liquid Droplets and Reversible Hydrogels into Irreversible Hydrogels Impairs RNP Granule Function (2015) (620)
Prediction of probable Alzheimer's disease in memory-impaired patients (1996) (589)
A beta peptide immunization reduces behavioural impairment and plaques in a model of Alzheimer's disease. (2000) (576)
Candidate single-nucleotide polymorphisms from a genomewide association study of Alzheimer disease. (2008) (522)
FUS Phase Separation Is Modulated by a Molecular Chaperone and Methylation of Arginine Cation-π Interactions (2018) (521)
α-Synuclein Membrane Interactions and Lipid Specificity* (2000) (509)
Lewy bodies contain altered alpha-synuclein in brains of many familial Alzheimer's disease patients with mutations in presenilin and amyloid precursor protein genes. (1998) (497)
Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease. (1998) (437)
Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes. (2010) (426)
Reversal of autophagy dysfunction in the TgCRND8 mouse model of Alzheimer's disease ameliorates amyloid pathologies and memory deficits. (2011) (401)
Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype (2001) (387)
Wild-type PINK1 Prevents Basal and Induced Neuronal Apoptosis, a Protective Effect Abrogated by Parkinson Disease-related Mutations* (2005) (347)
Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant. (1996) (299)
Phosphorylation, Subcellular Localization, and Membrane Orientation of the Alzheimer's Disease-associated Presenilins* (1997) (296)
Microbleed topography, leukoaraiosis, and cognition in probable Alzheimer disease from the Sunnybrook dementia study. (2008) (258)
SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis (2012) (252)
A NOVEL ALZHEIMER DISEASE LOCUS LOCATED NEAR THE GENE ENCODING TAU PROTEIN (2015) (246)
Common pathogenetic mechanism for three tumor types in bilateral acoustic neurofibromatosis. (1987) (243)
Early‐onset Parkinson's disease caused by a compound heterozygous DJ‐1 mutation (2003) (237)
RNA Granules Hitchhike on Lysosomes for Long-Distance Transport, Using Annexin A11 as a Molecular Tether (2019) (236)
SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis (2010) (235)
gamma-Secretase, Notch, Abeta and Alzheimer's disease: where do the presenilins fit in? (2002) (232)
alpha-Synuclein membrane interactions and lipid specificity. (2000) (211)
Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease. (2004) (209)
The clinical introduction of genetic testing for Alzheimer disease. An ethical perspective. (1997) (203)
Screening for PS1 mutations in a referral-based series of AD cases (2001) (203)
Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies (2014) (185)
C-terminal calcium binding of α-synuclein modulates synaptic vesicle interaction (2018) (184)
Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome. (2006) (180)
Serial changes of cerebral glucose metabolism and caudate size in persons at risk for Huntington's disease. (1992) (175)
Identification of novel loci for Alzheimer disease and replication of CLU, PICALM, and BIN1 in Caribbean Hispanic individuals. (2011) (173)
Therapeutically effective antibodies against amyloid-beta peptide target amyloid-beta residues 4-10 and inhibit cytotoxicity and fibrillogenesis. (2002) (171)
Somatic PKD2 mutations in individual kidney and liver cysts support a "two-hit" model of cystogenesis in type 2 autosomal dominant polycystic kidney disease. (1999) (169)
APH-1 Interacts with Mature and Immature Forms of Presenilins and Nicastrin and May Play a Role in Maturation of Presenilin·Nicastrin Complexes* (2003) (165)
SORL1 Is Genetically Associated with Late-Onset Alzheimer’s Disease in Japanese, Koreans and Caucasians (2013) (161)
Mature Glycosylation and Trafficking of Nicastrin Modulate Its Binding to Presenilins* 210 (2002) (160)
Evidence for an Alzheimer disease susceptibility locus on chromosome 12 and for further locus heterogeneity. (1998) (160)
Meta-analysis of the association between variants in SORL1 and Alzheimer disease. (2011) (159)
Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease. (2001) (159)
The association between genetic variants in SORL1 and Alzheimer disease in an urban, multiethnic, community-based cohort. (2007) (156)
The in Vivo Brain Interactome of the Amyloid Precursor Protein*S (2008) (155)
Coding mutations in SORL1 and Alzheimer disease (2015) (151)
TMP21 is a presenilin complex component that modulates gamma-secretase but not epsilon-secretase activity. (2006) (150)
The Genetics of Adult-Onset Neuropsychiatric Disease: Complexities and Conundra? (2003) (149)
Immunotherapy for Alzheimer's disease (2004) (141)
Familial frontotemporal dementia with ubiquitin-positive, tau-negative inclusions (2000) (141)
Extracellular Monomeric Tau Protein Is Sufficient to Initiate the Spread of Tau Protein Pathology* (2013) (141)
Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study. (2014) (140)
Absence of duplication of chromosome 21 genes in familial and sporadic Alzheimer's disease. (1987) (139)
Analysis of the 5' sequence, genomic structure, and alternative splicing of the presenilin-1 gene (PSEN1) associated with early onset Alzheimer disease. (1997) (137)
LRRK2 gene in Parkinson disease (2005) (135)
Alzheimer's disease and possible gene interaction. (1994) (134)
The human NACP/alpha-synuclein gene: chromosome assignment to 4q21.3-q22 and TaqI RFLP analysis. (1995) (133)
Molecular and prospective phenotypic characterization of a pedigree with familial Alzheimer's disease and a missense mutation in codon 717 of the β‐amyloid precursor protein gene (1992) (133)
Presenilin-Dependent γ-Secretase-Mediated Control of p53-Associated Cell Death in Alzheimer's Disease (2006) (130)
Analysis of the glucocerebrosidase gene in Parkinson's disease (2005) (125)
Rare coding mutations identified by sequencing of Alzheimer disease genome‐wide association studies loci (2015) (124)
Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease. (2003) (122)
Increased Production of β-Amyloid and Vulnerability to Endoplasmic Reticulum Stress by an Aberrant Spliced Form of Presenilin 2* (2001) (117)
Accumulation of filamentous tau in the cerebral cortex of human tau R406W transgenic mice. (2005) (117)
Familial and sporadic Alzheimer's disease (1996) (117)
Gender-related penetrance and de novo GTP-cyclohydrolase I gene mutations in dopa-responsive dystonia (1998) (116)
A comparison of neurological, metabolic, structural, and genetic evaluations in persons at risk for Huntington's disease (1990) (115)
ALS mutations in FUS cause neuronal dysfunction and death in Caenorhabditis elegans by a dominant gain-of-function mechanism (2011) (113)
Genome-wide linkage scan of a large family with IgA nephropathy localizes a novel susceptibility locus to chromosome 2q36. (2007) (111)
Presenilin structure, function and role in Alzheimer disease. (2000) (110)
Dopa‐responsive parkinsonism phenotype of Machado‐Joseph disease: Confirmation of 14q CAG expansion (1995) (108)
Investigation of c9orf72 in 4 neurodegenerative disorders. (2012) (106)
A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families. (2001) (104)
TREM2 shedding by cleavage at the H157‐S158 bond is accelerated for the Alzheimer's disease‐associated H157Y variant (2017) (103)
Alzheimer's disease (1996) (102)
Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome: implications for the molecular mechanisms of the instability of the CAG repeat. (1996) (101)
Transmission and age‐at‐onset patterns in familial Alzheimer's disease (1990) (100)
Association between angiotensin-converting enzyme and Alzheimer disease. (2000) (99)
Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture (2021) (99)
Frontotemporal dementia with novel tau pathology and a Glu342Val tau mutation (2000) (98)
Mutation analysis of CHCHD10 in different neurodegenerative diseases. (2015) (98)
Familial Alzheimer disease: Decreases in CSF Aβ42 levels precede cognitive decline (2005) (98)
Association between SORL1 and Alzheimer's disease in a genome-wide study (2007) (96)
Pyroglutamate-3 amyloid-β deposition in the brains of humans, non-human primates, canines, and Alzheimer disease-like transgenic mouse models. (2013) (95)
Presenilin 1 Mutations Activate γ42-Secretase but Reciprocally Inhibit ε-Secretase Cleavage of Amyloid Precursor Protein (APP) and S3-Cleavage of Notch* (2002) (94)
Therapeutic effects of remediating autophagy failure in a mouse model of Alzheimer disease by enhancing lysosomal proteolysis (2011) (94)
ATP-binding Cassette Transporter A7 (ABCA7) Loss of Function Alters Alzheimer Amyloid Processing* (2015) (89)
Rare Individual Amyloid-β Oligomers Act on Astrocytes to Initiate Neuronal Damage (2014) (89)
The effect of alcohol and tobacco consumption, and apolipoprotein E genotype, on the age of onset in Alzheimer's disease (2010) (87)
Progressive loss of renal function is an age-dependent heritable trait in type 1 autosomal dominant polycystic kidney disease. (2005) (87)
Hereditary spastic paraplegia: clinical genetic study of 15 families. (2004) (87)
Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased Abeta42 secretion. (1999) (86)
Conversion to Dementia among Two Groups with Cognitive Impairment (2004) (86)
Defective membrane interactions of familial Parkinson's disease mutant A30P alpha-synuclein. (2002) (85)
A cross-ethnic analysis of risk factors for AD in white Hispanics and white non-Hispanics (1999) (84)
Single Molecule Characterization of the Interactions between Amyloid-β Peptides and the Membranes of Hippocampal Cells (2013) (83)
Molecular genetics of Alzheimer's disease: the role of β-amyloid and the presenilins (2000) (83)
The Presenilin Proteins Are Components of Multiple Membrane-bound Complexes That Have Different Biological Activities* (2004) (81)
Brain levels of CDK5 activator p25 are not increased in Alzheimer's or other neurodegenerative diseases with neurofibrillary tangles (2003) (81)
Both common variations and rare non-synonymous substitutions and small insertion/deletions in CLU are associated with increased Alzheimer risk (2012) (81)
Homozygous inheritance of the Machado‐Joseph disease gene (1994) (81)
Group II Metabotropic Glutamate Receptor Stimulation Triggers Production and Release of Alzheimer's Amyloid β42 from Isolated Intact Nerve Terminals (2010) (80)
Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD (2006) (79)
Heterogeneity within a large kindred with frontotemporal dementia (2007) (78)
Conservation of synteny between the genome of the pufferfish (Fugu rubripes) and the region on human chromosome 14 (14q24.3) associated with familial Alzheimer disease (AD3 locus) (1996) (76)
Presenilin-dependent gamma-secretase-mediated control of p53-associated cell death in Alzheimer's disease. (2006) (74)
Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases (2016) (74)
In vivo reduction of amyloid-beta by a mutant copper transporter. (2003) (74)
Carboxyl-terminal Fragments of Alzheimer β-Amyloid Precursor Protein Accumulate in Restricted and Unpredicted Intracellular Compartments in Presenilin 1-deficient Cells* (2000) (74)
Vps10 Family Proteins and the Retromer Complex in Aging-Related Neurodegeneration and Diabetes (2012) (73)
Age-related changes in D2 receptor binding with iodine-123-iodobenzofuran SPECT. (1998) (72)
Intracellular oligomeric amyloid-beta rapidly regulates GluA1 subunit of AMPA receptor in the hippocampus (2015) (72)
ALS5/SPG11/ KIAA1840 mutations cause autosomal recessive axonal Charcot–Marie–Tooth disease (2015) (72)
Benign hereditary chorea: Clinical, genetic, and pathological findings (2003) (71)
Hypermethylation of the CpG-island near the C9orf72 G₄C₂-repeat expansion in FTLD patients. (2014) (71)
Endogenous presenilin 1 redistributes to the surface of lamellipodia upon adhesion of Jurkat cells to a collagen matrix. (1999) (70)
Molecular biology and genetics of Alzheimer's disease. (2005) (70)
Beta APP mRNA transcription is increased in cultured fibroblasts from the familial Alzheimer's disease-1 family. (1995) (68)
Cortical neuronal and glial pathology in TgTauP301L transgenic mice: neuronal degeneration, memory disturbance, and phenotypic variation. (2006) (68)
Drug Repositioning for Alzheimer’s Disease Based on Systematic ‘omics’ Data Mining (2016) (68)
Association of distinct variants in SORL1 with cerebrovascular and neurodegenerative changes related to Alzheimer disease. (2008) (66)
Abeta-degrading endopeptidase, neprilysin, in mouse brain: synaptic and axonal localization inversely correlating with Abeta pathology. (2002) (66)
Loss of γ-Secretase Function Impairs Endocytosis of Lipoprotein Particles and Membrane Cholesterol Homeostasis (2008) (64)
Genetic Factors in the Genesis of Alzheimer's Disease (2000) (62)
SOD1 missense mutation in an Italian family with ALS (1994) (62)
Structural Interactions between Inhibitor and Substrate Docking Sites Give Insight into Mechanisms of Human PS1 Complexes (2014) (61)
Linkage of polymorphic congenital cataract to the gamma-crystallin gene locus on human chromosome 2q33-35. (1996) (60)
Familial Alzheimer's disease: Site of mutation influences clinical phenotype (2000) (60)
Current and future implications of basic and translational research on amyloid-β peptide production and removal pathways (2015) (59)
δ-Catenin Is Genetically and Biologically Associated with Cortical Cataract and Future Alzheimer-Related Structural and Functional Brain Changes (2012) (58)
Cytosolic Proteins Regulate α-Synuclein Dissociation from Presynaptic Membranes* (2006) (57)
Shared genetic contribution to ischemic stroke and Alzheimer's disease (2016) (55)
A spectrum of mutations in the polycystic kidney disease-2 (PKD2) gene from eight Canadian kindreds. (1998) (55)
Expression of human FALS SOD in motorneurons of Drosophila. (1999) (54)
Are the associations between Alzheimer's disease and polymorphisms in the apolipoprotein E and the apolipoprotein CII genes due to linkage disequilibrium? (1994) (54)
Genome-Wide Survey of Large Rare Copy Number Variants in Alzheimer’s Disease Among Caribbean Hispanics (2012) (54)
The upstream promoter of the beta-amyloid precursor protein gene (APP) shows differential patterns of methylation in human brain. (1994) (53)
p53-Dependent Transcriptional Control of Cellular Prion by Presenilins (2009) (52)
Genetic Variability in CHMP2B and Frontotemporal Dementia (2006) (52)
Apolipoprotein-E (APO-E) genotype and symptoms of psychosis in Alzheimer's disease. (1999) (52)
Biomolecular condensates undergo a generic shear-mediated liquid-to-solid transition (2020) (51)
SORL1 mutations in early- and late-onset Alzheimer disease (2016) (51)
Variable clinical symptoms in familial amyotrophic lateral sclerosis with a novel point mutation in the Cu/Zn superoxide dismutase gene (1995) (51)
Analysis of the butyrylcholinesterase gene and nearby chromosome 3 markers in Alzheimer disease. (1998) (50)
TET2 Regulates the Neuroinflammatory Response in Microglia. (2019) (48)
Splicing mutation of presenilin‐1 gene for early‐onset familial Alzheimer's disease (1998) (48)
The physiological and pathological biophysics of phase separation and gelation of RNA binding proteins in amyotrophic lateral sclerosis and fronto-temporal lobar degeneration (2018) (48)
F-box/LRR-repeat protein 7 is genetically associated with Alzheimer’s disease (2015) (47)
The gene encoding nicastrin, a major gamma-secretase component, modifies risk for familial early-onset Alzheimer disease in a Dutch population-based sample. (2002) (47)
Psychiatric, genetic, and positron emission tomographic evaluation of persons at risk for Huntington's disease. (1992) (45)
Mutations in the open reading frame of the β-site APP cleaving enzyme (BACE) locus are not a common cause of Alzheimer's disease (2001) (45)
Inhibiting Amyloid Precursor Protein C-terminal Cleavage Promotes an Interaction with Presenilin 1* (2000) (43)
Piecing together Alzheimer's. (2000) (43)
Neprilysin activity and expression are controlled by nicastrin (2006) (42)
Dissociated phenotypes in presenilin transgenic mice define functionally distinct gamma-secretases. (2005) (41)
A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts (2004) (41)
The levels of mature glycosylated nicastrin are regulated and correlate with γ‐secretase processing of amyloid β‐precursor protein (2002) (40)
Homozygous and heterozygous PINK1 mutations: Considerations for diagnosis and care of Parkinson's disease patients (2006) (39)
Association between bleomycin hydrolase and Alzheimer's disease in caucasians (1998) (39)
Single-Molecule Imaging Reveals that Small Amyloid-β1–42 Oligomers Interact with the Cellular Prion Protein (PrPC) (2014) (39)
Anatomic, metabolic, neuropsychological, and molecular genetic studies of three pairs of identical twins discordant for dementia of the Alzheimer's type. (1991) (39)
Rarity of the Alzheimer disease-protective APP A673T variant in the United States. (2015) (39)
Presenilin-1 regulates the neuronal threshold to excitotoxicity both physiologically and pathologically. (2000) (38)
Structural biology of presenilin 1 complexes (2014) (38)
An alpha-2-macroglobulin insertion-deletion polymorphism in Alzheimer disease. (1999) (38)
Assembly of the presenilin γ‐/ε‐secretase complex (2012) (37)
Gerstmann-Sträussler-Scheinker Disease (PRNP P102L): Amyloid Deposits Are Best Recognized by Antibodies Directed to Epitopes in PrP Region 90-165 (1995) (37)
Novel presenilin 1 mutations associated with early onset of dementia in a family with both early-onset and late-onset Alzheimer disease. (2000) (37)
Expanded genomewide scan implicates a novel locus at 3q28 among Caribbean hispanics with familial Alzheimer disease. (2006) (37)
Random Mutagenesis of Presenilin-1 Identifies Novel Mutants Exclusively Generating Long Amyloid β-Peptides* (2005) (37)
Integrative approach to sporadic Alzheimer’s disease: deficiency of TYROBP in a tauopathy mouse model reduces C1q and normalizes clinical phenotype while increasing spread and state of phosphorylation of tau (2018) (37)
Biology of presenilins as causative molecules for Alzheimer disease (1999) (37)
APH1 Polar Transmembrane Residues Regulate the Assembly and Activity of Presenilin Complexes* (2009) (37)
Early fear memory defects are associated with altered synaptic plasticity and molecular architecture in the TgCRND8 Alzheimer's disease mouse model (2014) (36)
Identification of the genetic locus for keratosis palmaris et plantaris on chromosome 17 near the RARA and keratin type I genes (1993) (36)
Evidence of recessive Alzheimer disease loci in a Caribbean Hispanic data set: genome-wide survey of runs of homozygosity. (2013) (36)
Proteolytic processing of presenilin‐1 (PS‐1) is not associated with Alzheimer's disease with or without PS‐1 mutations (1997) (36)
Meta-analysis of genetic association with diagnosed Alzheimer’s disease identifies novel risk loci and implicates Abeta, Tau, immunity and lipid processing (2018) (36)
Inherited myoclonus‐dystonia: Evidence supporting genetic heterogeneity (2001) (36)
The gamma/epsilon-secretase-derived APP intracellular domain fragments regulate p53. (2007) (36)
Association of Long Runs of Homozygosity With Alzheimer Disease Among African American Individuals. (2015) (34)
Recurrent fetal loss associated with bilineal inheritance of type 1 autosomal dominant polycystic kidney disease. (2002) (34)
Machado-Joseph disease in pedigrees of Azorean descent is linked to chromosome 14. (1994) (33)
Intron 2 (T/C) CYP46 Polymorphism Is Associated with Alzheimer’s Disease in Chinese Patients (2006) (32)
Clinical and genetic study of a large SPG4 Italian family (2005) (31)
Clinical and genetic study of a large Italian family linked to SPG12 locus (2002) (30)
Refining the position of Wilson disease by linkage disequilibrium with polymorphic microsatellites. (1994) (30)
A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers (2018) (30)
Report of the second international workshop on human chromosome 14 mapping 1994. (1995) (30)
IL5RA and TNFRSF6B gene variants are associated with sporadic IgA nephropathy. (2008) (29)
Abeta-42 deposition precedes other changes in PS-1 Alzheimer's disease. (1998) (29)
The ONDRISeq panel: custom-designed next-generation sequencing of genes related to neurodegeneration (2016) (28)
Developmental Expression of Wild-Type and Mutant Presenilin-1 in Hippocampal Neurons from Transgenic Mice: Evidence for Novel Species-Specific Properties of Human Presenilin-1 (1999) (28)
New locus for hereditary spastic paraplegia maps to chromosome 1p31.1‐1p21.1 (2005) (28)
Long-Term Statin Therapy and CSF Cholesterol Levels: Implications for Alzheimer’s Disease (2009) (27)
A novel presenilin 2 mutation (V393M) in early‐onset dementia with profound language impairment (2008) (27)
Further examination of the candidate genes in chromosome 12p13 locus for late-onset Alzheimer disease (2008) (27)
Presenilin function: connections to Alzheimer's disease and signal transduction. (2001) (27)
Choice of biological source material supersedes oxidative stress in its influence on DJ-1 in vivo interactions with Hsp90. (2011) (27)
A presenilin‐1 mutation in a Japanese family with Alzheimer's disease and distinctive abnormalities on cranial MRI (1997) (26)
Age-at-onset linkage analysis in Caribbean Hispanics with familial late-onset Alzheimer’s disease (2008) (26)
Clinical and pathologic evidence of corticobasal degeneration and progressive supranuclear palsy in familial tauopathy. (2005) (26)
Familial Dementia With Frontotemporal Features Associated With M146V Presenilin‐1 Mutation (2013) (26)
The levels of mature glycosylated nicastrin are regulated and correlate with gamma-secretase processing of amyloid beta-precursor protein. (2002) (26)
Heritability and genetic variance of dementia with Lewy bodies (2018) (25)
TMP21 Transmembrane Domain Regulates γ-Secretase Cleavage* (2009) (25)
PS1 Alzheimer’s disease family with spastic paraplegia (2003) (25)
Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies (2020) (25)
Polymorphic microsatellites and Wilson disease (WD). (1993) (24)
A novel Leu171Pro mutation in presenilin-1 gene in a Mexican family with early onset Alzheimer disease. (1998) (24)
Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus) (2006) (23)
Wild-type sTREM2 blocks Aβ aggregation and neurotoxicity, but the Alzheimer's R47H mutant increases Aβ aggregation (2021) (22)
Intra-familial clinical heterogeneity due to FTLD-U with TDP-43 proteinopathy caused by a novel deletion in progranulin gene (PGRN). (2011) (22)
Normal brain development in PS1 hypomorphic mice with markedly reduced gamma-secretase cleavage of betaAPP. (2002) (21)
Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia (2006) (21)
Inbreeding among Caribbean Hispanics from the Dominican Republic and the Effects on the Risk of Alzheimer's Disease (2014) (21)
Abeta1-40 but not Abeta1-42 levels in cortex correlate with apolipoprotein E epsilon4 allele dosage in sporadic Alzheimer's disease. (1997) (21)
Childhood onset in familial prion disease with a novel mutation in the PRNP gene. (2006) (20)
Analysis of the c‐FOS gene on chromosome 14 and the promoter of the amyloid precursor protein gene in familial Alzheimer's disease (1993) (20)
T313M PINK1 mutation in an extended highly consanguineous Saudi family with early-onset Parkinson disease. (2006) (20)
Alleles at the Nicastrin locus modify presenilin 1- deficiency phenotype (2002) (19)
p53‐Dependent control of cell death by nicastrin: lack of requirement for presenilin‐dependent γ‐secretase complex (2009) (19)
TMP21 regulates Abeta production but does not affect caspase-3, p53, and neprilysin. (2008) (19)
A novel frameshift mutation induced by an adenosine insertion in the polycystic kidney disease 2 (PKD2) gene. (1998) (19)
Catabolism of endogenous and overexpressed APH1a and PEN2: evidence for artifactual involvement of the proteasome in the degradation of overexpressed proteins. (2006) (18)
Reactive or transgenic increase in microglial TYROBP reveals a TREM2‐independent TYROBP–APOE link in wild‐type and Alzheimer's‐related mice (2020) (18)
Differential display analysis of presenilin 1-deficient mouse brains. (2002) (17)
Presenilin‐directed inhibitors of γ‐secretase trigger caspase 3 activation in presenilin‐expressing and presenilin‐deficient cells (2004) (17)
Apolipoprotein E polymorphism and age of onset for Alzheimer's disease in a bi-ethnic sample (2004) (17)
Presenilin-1 holoprotein is an interacting partner of sarco endoplasmic reticulum calcium-ATPase and confers resistance to endoplasmic reticulum stress. (2010) (16)
A comprehensive screening of copy number variability in dementia with Lewy bodies (2019) (16)
Identification and Structural Characterisation of Carboxy-Terminal Polypeptides and Antibody Epitopes of Alzheimer's Amyloid Precursor Protein Using High-Resolution Mass Spectrometry (2005) (16)
Targeting the amyloid-β antibody in the brain tissue of a mouse model of Alzheimer's disease. (2012) (15)
An informative microsatellite repeat polymorphism in the human neurofilament light polypeptide (NEFL) gene. (1992) (15)
Statins differentially affect amyloid precursor protein metabolism in presymptomatic PS1 and non-PS1 subjects. (2007) (14)
Mutation of conserved aspartates affect maturation of presenilin 1 and presenilin 2 complexes (2000) (14)
Deciphering microglial diversity in Alzheimer's disease (2017) (14)
Longitudinal evaluation of Tau‐P301L transgenic mice reveals no cognitive impairments at 17 months of age (2017) (12)
Evidence that the β-catenin Nuclear Translocation Assay Allows for Measuring Presenilin 1 Dysfunction (2000) (12)
Pulmonary malakoplakia. (1984) (12)
The BCL3 locus on chromosome 19 displays an informative microsatellite polymorphism. (1992) (12)
Structural and Chemical Biology of Presenilin Complexes. (2017) (12)
Wild-type and mutated nicastrins do not display aminopeptidase M- and B-like activities. (2001) (12)
Novel PS1 Mutation in a Bavarian Kindred With Familial Alzheimer Disease (2004) (11)
Interactome Analyses of Mature γ-Secretase Complexes Reveal Distinct Molecular Environments of Presenilin (PS) Paralogs and Preferential Binding of Signal Peptide Peptidase to PS2* (2013) (11)
Two homologous genes causing early-onset familial Alzheimer's disease. (1996) (11)
Molecular genetics of Alzheimer's disease. (2000) (11)
A Novel PS1 Gene Mutation in a Large Aboriginal Kindred (2010) (11)
Monozygotic twins concordant for late-onset probable Alzheimer disease with suspected Alzheimer disease in four sibs. (1992) (10)
Amyloid-β toxicity modulates tau phosphorylation through the PAX6 signalling pathway. (2021) (9)
A highly informative microsatellite repeat polymorphism in intron 1 of the human amyloid precursor protein (APP) gene. (1993) (9)
Correction: SORL1 Is Genetically Associated with Late-Onset Alzheimer’s Disease in Japanese, Koreans and Caucasians (2013) (9)
JLK inhibitors: isocoumarin compounds as putative probes to selectively target the gamma-secretase pathway. (2005) (9)
Carboxyl-terminal fragments of presenilin-1 are closely related to cytoskeletal abnormalities in Alzheimer's brains. (1999) (8)
Role of genetics in tests of genotype, status, and disease progression in early-onset Alzheimer's disease. (1998) (8)
Ultra-rare mutations in SRCAP segregate in Caribbean Hispanic families with Alzheimer disease (2017) (8)
Genetic markers in the diagnosis of Alzheimer's disease. (2001) (8)
Does Soluble TREM2 Protect Against Alzheimer's Disease? (2022) (7)
Potential roles for presenilin-1 in oxygen sensing and in glial-specific gene expression (2004) (7)
Differential interaction with TREM2 modulates microglial uptake of modified Aβ species (2021) (7)
Characterization of the Kindred of Alois Alzheimer's Patient With Plaque-only Dementia (2006) (7)
Overexpression of human CRB1 or related isoforms, CRB2 and CRB3, does not regulate the human presenilin complex in culture cells. (2007) (7)
Prevention of Alzheimer's disease in high risk groups: statin therapy in subjects with PSEN1 mutations or heterozygosity for apolipoprotein E epsilon 4 (2010) (7)
Inherited and Sporadic Amyotrophic Lateral Sclerosis and Fronto-Temporal Lobar Degenerations arising from Pathological Condensates of Phase Separating Proteins. (2019) (7)
The apolipoprotein E2 isoform is associated with accelerated onset of coronary artery disease in systemic lupus erythematosus. (2008) (6)
Alzheimer Amyloid Precursor Aspartyl Proteinase Activity in CHAPSO Homogenates of Spodoptera frugiperda Cells (2004) (6)
Genetic determinants of Alzheimer disease. (1995) (6)
Brain traffic: subcellular transport of the amyloid precursor protein. (2009) (6)
Amyloid-beta-protein isoforms in brain of subjects with PS1-linked, beta APP-linked and sporadic Alzheimer disease. (1998) (6)
Dopa‐responsive dystonia presenting with prominent isolated bilateral resting leg tremor: Evidence for a role of parkin? (2003) (5)
Search for the familial Alzheimer's disease gene. (1987) (5)
Linkage analysis in familial Alzheimer disease: Description of the Duke and Boston data sets (1993) (5)
Gamma-secretase-like cleavages of Notch and beta APP are mutually exclusive in human cells. (2002) (4)
Fc&ggr; Receptor Polymorphisms Do Not Predict Response to Intravenous Immunoglobulin in Myasthenia Gravis (2012) (4)
Molecular genetics of familial Alzheimer's disease. (1989) (4)
Neuropathological, biochemical and genetic alterations in AD. (2000) (4)
Comparison of clinical and pathological phenotypes in two ethnically and geographically unrelated pedigrees segregating an equivalent presenilin 1 mutation. (2000) (3)
Molecular genetics of Alzheimer disease. (1999) (3)
Oral Immunization with Soybean Storage Protein Containing Amyloid-β 4–10 Prevents Spatial Learning Decline (2019) (2)
Assessment of Genetic Polymorphisms in DNA from Formalin Fixed Neurological Tissues (1994) (2)
Study on the Putative Contribution of Caspases and the Proteasome to the Degradation of Aph-1a and Pen-2 (2007) (2)
Alzheimer's disease. (2000) (1)
Both common variations and rare non-synonymous substitutions and small insertion/deletions in CLU are associated with increased Alzheimer risk (2012) (1)
[Mapping the gene for palmoplantar hyperkeratosis (thylosis) to chromosome 17 in the 17q12-q24 region]. (1994) (1)
Generation of amyloid beta protein from a presenilin-1 and betaAPP complex. (2002) (1)
Identification of a sex-specific genetic signature in dementia with Lewy bodies: a meta-analysis of genome-wide association studies (2022) (0)
The Nairobi Declaration—Reducing the burden of dementia in low‐ and middle‐income countries (LMICs): Declaration of the 2022 Symposium on Dementia and Brain Aging in LMICs (2023) (0)
Association of apolipoprotein E allele ε4 with late-onset familial and sporadic Alzheimer's disease (2011) (0)
Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies (2020) (0)
Wild-type sTREM2 blocks Aβ aggregation and neurotoxicity, while the Alzheimer’s R47H mutant does the opposite (2020) (0)
Correction to: A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity (2020) (0)
MOLECULAR GENETIC APPROACHES TO AUTOSOMAL DOMINANT FAMILIAL ALZHEIMER'S DISEASE (1988) (0)
MicroRNA-128 suppresses tau phosphorylation and reduces amyloid-beta accumulation by inhibiting the expression of GSK3β, APPBP2, and mTOR in Alzheimer's disease. (2023) (0)
Genetically elevated high-density lipoprotein cholesterol through the cholesteryl ester transfer protein gene does not associate with risk of Alzheimer's disease (2018) (0)
Withdrawal: Cytosolic proteins regulate α-synuclein dissociation from presynaptic membranes. (2020) (0)

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