Gregory Alex Grabowski
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Biology
Gregory Alex Grabowski's Degrees
- PhD Neuroscience Stanford University
- Masters Biology University of California, San Francisco
- Bachelors Biochemistry University of California, Berkeley
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(Suggest an Edit or Addition)Gregory Alex Grabowski'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
- Gaucher Disease Glucocerebrosidase and α-Synuclein Form a Bidirectional Pathogenic Loop in Synucleinopathies (2011) (1070)
- Fabry Disease, an Under-Recognized Multisystemic Disorder: Expert Recommendations for Diagnosis, Management, and Enzyme Replacement Therapy (2003) (671)
- Phenotype, diagnosis, and treatment of Gaucher's disease (2008) (477)
- Enzyme Therapy in Type 1 Gaucher Disease: Comparative Efficacy of Mannose-Terminated Glucocerebrosidase from Natural and Recombinant Sources (1995) (424)
- Therapeutic goals in the treatment of Gaucher disease. (2004) (376)
- Editing of CD1d-Bound Lipid Antigens by Endosomal Lipid Transfer Proteins (2004) (342)
- CNS expression of glucocerebrosidase corrects α-synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy (2011) (285)
- Acid β‐glucosidase mutants linked to gaucher disease, parkinson disease, and lewy body dementia alter α‐synuclein processing (2011) (282)
- Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA (2008) (251)
- Discrete mechanisms of mTOR and cell cycle regulation by AMPK agonists independent of AMPK (2014) (214)
- Enzyme therapy for Gaucher disease: the first 5 years. (1998) (196)
- Enzyme therapy in Gaucher disease type 1: dosage efficacy and adverse effects in 33 patients treated for 6 to 24 months. (1993) (189)
- A specific and potent inhibitor of glucosylceramide synthase for substrate inhibition therapy of Gaucher disease. (2007) (165)
- Fabry Disease , an UnderRecognized Multisystemic Disorder : Expert Recommendations for Diagnosis , Management , and Enzyme Replacement Therapy (2003) (162)
- Lysosomal acid lipase-deficient mice: depletion of white and brown fat, severe hepatosplenomegaly, and shortened life span. (2001) (161)
- Defects of bile acid synthesis in Zellweger's syndrome. (1979) (160)
- Phenotype/genotype correlations in Gaucher disease type I: clinical and therapeutic implications. (1993) (156)
- High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews. (1991) (156)
- Gaucher disease: gene frequencies and genotype/phenotype correlations. (1997) (145)
- Targeted disruption of the mouse lysosomal acid lipase gene: long-term survival with massive cholesteryl ester and triglyceride storage. (1998) (140)
- Gaucher's disease: molecular, genetic and enzymological aspects. (1997) (140)
- Lysosomal Enzymes Are Released From Cultured Human Macrophages, Hydrolyze LDL In Vitro, and Are Present Extracellularly in Human Atherosclerotic Lesions (2003) (139)
- Viable mouse models of acid beta-glucosidase deficiency: the defect in Gaucher disease. (2003) (135)
- Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression. (1994) (134)
- Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements (2004) (131)
- Multi-system disorders of glycosphingolipid and ganglioside metabolism (2010) (128)
- Gaucher disease: molecular heterogeneity and phenotype-genotype correlations. (1989) (128)
- Bioproduction of Human Enzymes in Transgenic Tobacco a (1996) (126)
- Complement drives glucosylceramide accumulation and tissue inflammation in Gaucher disease (2017) (126)
- Accumulation and distribution of α-synuclein and ubiquitin in the CNS of Gaucher disease mouse models. (2011) (124)
- Characterization of Lysosomal Acid Lipase by Site-directed Mutagenesis and Heterologous Expression (*) (1995) (121)
- Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring (2008) (120)
- Acid β-Glucosidase: Enzymology and Molecular Biology of Gaucher Diseas (1990) (113)
- Neuronopathic Gaucher disease in the mouse: viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits (2010) (112)
- Taliglucerase alfa: an enzyme replacement therapy using plant cell expression technology. (2014) (112)
- Gaucher disease and other storage disorders. (2012) (111)
- Gaucher disease. Enzymology, genetics, and treatment. (1993) (109)
- Enzyme therapy for lysosomal storage disease: principles, practice, and prospects. (2003) (109)
- Gaucher disease. Current issues in diagnosis and treatment. NIH Technology Assessment Panel on Gaucher Disease. (1996) (107)
- Complex alleles of the acid beta-glucosidase gene in Gaucher disease. (1990) (107)
- Human acid beta-glucosidase. N-glycosylation site occupancy and the effect of glycosylation on enzymatic activity. (1993) (107)
- Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid beta-glucosidase gene. (1989) (105)
- Gaucher disease: alendronate disodium improves bone mineral density in adults receiving enzyme therapy. (2004) (103)
- Gaucher disease: perspectives on a prototype lysosomal disease (2002) (103)
- Mannosidosis: Clinical, Morphologic, Immunologic, and Biochemical Studies (1976) (103)
- Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations. (2006) (102)
- Chronic GM2 gangliosidosis masquerading as atypical Friedreich ataxia (1981) (100)
- The role of neurogenetics in Gaucher disease. (1993) (99)
- Ex Vivo and in Vivo Effects of Isofagomine on Acid β-Glucosidase Variants and Substrate Levels in Gaucher Disease* (2011) (93)
- Enzyme Augmentation in Moderate to Life-Threatening Gaucher Disease (1992) (92)
- Guidance on the use of miglustat for treating patients with type 1 Gaucher disease (2005) (91)
- Gaucher disease types 1 and 3: Phenotypic characterization of large populations from the ICGG Gaucher Registry (2015) (88)
- Neuropathy target esterase impairments cause Oliver–McFarlane and Laurence–Moon syndromes (2014) (87)
- Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1 (2009) (87)
- Characterization of Gaucher disease bone marrow mesenchymal stromal cells reveals an altered inflammatory secretome. (2009) (86)
- Heterogeneity of mutations in the acid beta-glucosidase gene of Gaucher disease patients. (1991) (85)
- Molecular cloning and characterization of a translational inhibitory protein that binds to coding sequences of human acid beta-glucosidase and other mRNAs. (1999) (82)
- Enzyme therapy in Fabry disease: differential in vivo plasma clearance and metabolic effectiveness of plasma and splenic alpha-galactosidase A isozymes. (1979) (81)
- Functional human saposins expressed in Escherichia coli. Evidence for binding and activation properties of saposins C with acid beta-glucosidase. (1994) (80)
- Gaucher disease: enzyme therapy in the acute neuronopathic variant. (1997) (79)
- Multiple pathogenic proteins implicated in neuronopathic Gaucher disease mice. (2014) (78)
- Identification of Glu340 as the active-site nucleophile in human glucocerebrosidase by use of electrospray tandem mass spectrometry. (1994) (77)
- Enzyme therapy for lysosomal acid lipase deficiency in the mouse. (2001) (76)
- Gaucher's disease type 1: assessment of bone involvement by CT and scintigraphy. (1986) (75)
- Immunological cells and functions in Gaucher disease. (2013) (74)
- Human Ah receptor (AHR) gene: localization to 7p15 and suggestive correlation of polymorphism with CYP1A1 inducibility. (1997) (72)
- Human acid beta-glucosidase: isolation and amino acid sequence of a peptide containing the catalytic site. (1986) (72)
- Analyses of catalytic activity and inhibitor binding of human acid beta-glucosidase by site-directed mutagenesis. Identification of residues critical to catalysis and evidence for causality of two Ashkenazi Jewish Gaucher disease type 1 mutations. (1990) (71)
- Recent clinical progress in Gaucher disease (2005) (71)
- Unique Cellular Events Occurring during the Initial Interaction of Macrophages with Matrix-retained or Methylated Aggregated Low Density Lipoprotein (LDL) (1999) (71)
- CNS-accessible Inhibitor of Glucosylceramide Synthase for Substrate Reduction Therapy of Neuronopathic Gaucher Disease (2016) (71)
- Saposin C Is Required for Normal Resistance of Acid β-Glucosidase to Proteolytic Degradation* (2003) (70)
- A 27-year experience with splenectomy for Gaucher's disease. (1991) (68)
- Association Between Progranulin and Gaucher Disease (2016) (67)
- Differential Membrane Interactions of Saposins A and C (2001) (67)
- Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring (2004) (66)
- 42. Wolman disease/cholesteryl ester storage disease: Efficacy of plant-produced human lysosomal acid lipase in mice (2009) (65)
- AAV8‐mediated expression of glucocerebrosidase ameliorates the storage pathology in the visceral organs of a mouse model of Gaucher disease (2006) (64)
- A validated disease severity scoring system for adults with type 1 Gaucher disease (2010) (64)
- Gaucher disease: genetic heterogeneity within and among the subtypes detected by immunoblotting. (1987) (63)
- Gaucher disease mouse models: point mutations at the acid beta-glucosidase locus combined with low-level prosaposin expression lead to disease variants. (2005) (62)
- Enzyme therapy in Gaucher disease type 1: effect of neutralizing antibodies to acid beta-glucosidase. (1997) (62)
- Functional Organization of Saposin C (1996) (60)
- Pathological findings in Gaucher disease type 2 patients following enzyme therapy. (1995) (60)
- Enzyme reconstitution/replacement therapy for lysosomal storage diseases (2007) (59)
- The role of mannosylated enzyme and the mannose receptor in enzyme replacement therapy. (2005) (59)
- Isofagomine In Vivo Effects in a Neuronopathic Gaucher Disease Mouse (2011) (58)
- Turnover and Distribution of Intravenously Administered Mannose-Terminated Human Acid β-Glucosidase in Murine and Human Tissues (1996) (58)
- Synthesis of a fluorescent derivative of glucosyl ceramide for the sensitive determination of glucocerebrosidase activity. (1984) (58)
- Gaucher disease: A G+1----A+1 IVS2 splice donor site mutation causing exon 2 skipping in the acid beta-glucosidase mRNA. (1992) (58)
- Accelerated skeletal deterioration after splenectomy in Gaucher type 1 disease. (1982) (58)
- Reduced plasma concentrations of total, low density lipoprotein and high density lipoprotein cholesterol in patients with Gaucher type I disease (1984) (58)
- Molecular cloning of a human co-β-glucosidase cDNA: Evidence that four sphingolipid hydrolase activator proteins are encoded by single genes in humans and rats ☆ (1989) (56)
- Acid beta-glucosidase: enzymology and molecular biology of Gaucher disease. (1990) (56)
- The M-mode echocardiogram in Fabry's disease. (1980) (55)
- Molecular and enzymatic analyses of lysosomal acid lipase in cholesteryl ester storage disease. (1998) (55)
- Human acid beta-glucosidase. Use of conduritol B epoxide derivatives to investigate the catalytically active normal and Gaucher disease enzymes. (1986) (55)
- Posttranslational processing of human lysosomal acid beta-glucosidase: a continuum of defects in Gaucher disease type 1 and type 2 fibroblasts. (1989) (54)
- Developmental and tissue-specific expression of prosaposin mRNA in murine tissues. (1994) (54)
- Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase (2013) (53)
- Gaucher disease: lessons from a decade of therapy. (2004) (52)
- Genetic heterogeneity in Gaucher disease: physicokinetic and immunologic studies of the residual enzyme in cultured fibroblasts from non-neuronopathic and neuronopathic patients. (1985) (52)
- Lysosomal acid lipase deficiency: correction of lipid storage by adenovirus-mediated gene transfer in mice. (2002) (51)
- Acid β-Glucosidase: Intrinsic Fluorescence and Conformational Changes Induced by Phospholipids and Saposin C† (1998) (51)
- Acid beta-glucosidase 1 counteracts p38delta-dependent induction of interleukin-6: possible role for ceramide as an anti-inflammatory lipid. (2009) (51)
- Gaucher disease type 1: cloning and characterization of a cDNA encoding acid beta-glucosidase from an Ashkenazi Jewish patient. (1988) (50)
- Recommendations for the assessment and monitoring of skeletal manifestations in children with Gaucher disease (2008) (50)
- Structural studies of urinary oligosaccharides from patients with mannosidosis. (1981) (50)
- CNS, lung, and lymph node involvement in Gaucher disease type 3 after 11 years of therapy: clinical, histopathologic, and biochemical findings. (2015) (50)
- Tissue and cellular specific expression of murine lysosomal acid lipase mRNA and protein. (1996) (50)
- Reprogramming erythroid cells for lysosomal enzyme production leads to visceral and CNS cross-correction in mice with Hurler syndrome (2009) (50)
- Extracellular Lipids Accumulate in Human Carotid Arteries as Distinct Three-Dimensional Structures and Have Proinflammatory Properties. (2017) (49)
- Impaired autophagosomes and lysosomes in neuronopathic Gaucher disease (2010) (48)
- Chemical screen to reduce sterol accumulation in Niemann-Pick C disease cells identifies novel lysosomal acid lipase inhibitors. (2009) (48)
- Reduction of Atherosclerotic Plaques by Lysosomal Acid Lipase Supplementation (2004) (48)
- Involvement of Acid β-Glucosidase 1 in the Salvage Pathway of Ceramide Formation* (2009) (44)
- Reconstitution of TCP80/NF90 translation inhibition activity in insect cells. (2000) (44)
- Improved management of lysosomal glucosylceramide levels in a mouse model of type 1 Gaucher disease using enzyme and substrate reduction therapy (2010) (44)
- Gaucher disease: Identification of three new mutations in the Korean and Chinese (Taiwanese) populations (1996) (44)
- Human acid beta-glucosidase. Use of inhibitory and activating monoclonal antibodies to investigate the enzyme's catalytic mechanism and saposin A and C binding sites. (1991) (44)
- Production of active human glucocerebrosidase in seeds of Arabidopsis thaliana complex-glycan-deficient (cgl) plants. (2012) (43)
- MR imaging in adults with Gaucher disease type I: evaluation of marrow involvement and disease activity (2004) (42)
- Glycosphingolipid studies of visceral tissues and brain from type 1 Gaucher disease variants (1985) (41)
- Phenotypic and genotypic heterogeneity in Gaucher disease type 1: a comparison between Brazil and the rest of the world. (2007) (41)
- Properties of Neurons Derived from Induced Pluripotent Stem Cells of Gaucher Disease Type 2 Patient Fibroblasts: Potential Role in Neuropathology (2015) (40)
- Resting energy expenditure in Gaucher's disease type 1: effect of Gaucher's cell burden on energy requirements. (1989) (40)
- Substrate Compositional Variation with Tissue/Region and Gba1 Mutations in Mouse Models–Implications for Gaucher Disease (2013) (39)
- Neurological deficits and glycosphingolipid accumulation in saposin B deficient mice (2008) (39)
- Abnormalities in lipoprotein metabolism in Gaucher type 1 disease. (1988) (39)
- Comparative Therapeutic Effects of Velaglucerase Alfa and Imiglucerase in a Gaucher Disease Mouse Model (2010) (39)
- Human acid beta-glucosidase: use of inhibitors, alternative substrates and amphiphiles to investigate the properties of the normal and Gaucher disease active sites. (1987) (39)
- Gaucher disease types 1, 2, and 3: differential mutations of the acid beta-glucosidase active site identified with conduritol B epoxide derivatives and sphingosine. (1985) (39)
- Phospholipid vesicle fusion induced by saposin C. (2003) (38)
- Structure and evolution of the human prosaposin chromosomal gene. (1992) (37)
- Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry. (2017) (37)
- Neuronopathic Gaucher disease: dysregulated mRNAs and miRNAs in brain pathogenesis and effects of pharmacologic chaperone treatment in a mouse model. (2015) (37)
- Human acid β-glucosidase: Glycosylation is required for catalytic activity (1990) (37)
- Human lysosomal beta-glucosidase: kinetic characterization of the catalytic, aglycon, and hydrophobic binding sites. (1984) (37)
- Molecular and cell biology of acid beta-glucosidase and prosaposin. (2001) (36)
- Combined saposin C and D deficiencies in mice lead to a neuronopathic phenotype, glucosylceramide and alpha-hydroxy ceramide accumulation, and altered prosaposin trafficking. (2007) (36)
- Saposins A, B, C, and D in plasma of patients with lysosomal storage disorders. (2000) (36)
- Enzyme therapy of gaucher disease: clinical and biochemical changes during production of and tolerization for neutralizing antibodies. (2003) (35)
- The role of UDP-Glc:glycoprotein glucosyltransferase 1 in the maturation of an obligate substrate prosaposin (2010) (35)
- Lysosomal acid lipase and atherosclerosis (2004) (35)
- Specific saposin C deficiency: CNS impairment and acid β-glucosidase effects in the mouse (2009) (35)
- Gaucher type I (Ashkenazi) disease: a new method for heterozygote detection using a novel fluorescent natural substrate. (1982) (34)
- Lysosomal acid lipase deficiency: Expanding differential diagnosis. (2017) (34)
- Characterization of neuronopathic Gaucher disease among ethnic Poles (2006) (34)
- Global gene expression profile progression in Gaucher disease mouse models (2011) (33)
- Immunological cell type characterization and Th1-Th17 cytokine production in a mouse model of Gaucher disease. (2012) (33)
- An unexpected player in Gaucher disease: The multiple roles of complement in disease development. (2018) (32)
- Gaucher disease: heterologous expression of two alleles associated with neuronopathic phenotypes. (1991) (32)
- Modulating ryanodine receptors with dantrolene attenuates neuronopathic phenotype in Gaucher disease mice. (2016) (32)
- Dependence of reversibility and progression of mouse neuronopathic Gaucher disease on acid beta-glucosidase residual activity levels. (2008) (31)
- Gaucher disease: Four rare alleles encoding F213I, P289L, T323I, and R463C in type 1 variants (1992) (31)
- First-trimester prenatal diagnosis of Tay-Sachs disease. (1984) (30)
- Ectopic expression of alpha1,6 fucosyltransferase in mice causes steatosis in the liver and kidney accompanied by a modification of lysosomal acid lipase. (2001) (30)
- Human acid beta-glucosidase: Northern blot and S1 nuclease analysis of mRNA from HeLa cells and normal and Gaucher disease fibroblasts. (1986) (30)
- Silicon nephropathy mimicking Fabry's disease. (1983) (30)
- Prosaposin: threshold rescue and analysis of the "neuritogenic" region in transgenic mice. (2002) (29)
- Vitreous opacities and retinal vascular abnormalities in Gaucher disease. (2004) (29)
- Comparative evaluation of α-galactosidase A infusions for treatment of Fabry disease (2003) (29)
- Tissue Localization of Glycosphingolipid Accumulation in a Gaucher Disease Mouse Brain by LC-ESI-MS/MS and High-Resolution MALDI Imaging Mass Spectrometry (2017) (29)
- Gaucher disease: chemotactic factors and immunological cell invasion in a mouse model. (2014) (29)
- Human lysosomal β-glucosidase: Purification by affinity chromatography (1984) (29)
- Tartrate‐resistant acid phosphatase staining of monocytes in gaucher disease (1985) (28)
- Human acid beta-glucosidase: inhibition studies using glucose analogues and pH variation to characterize the normal and Gaucher disease glycon binding sites. (1988) (28)
- Apolipoprotein E-deficient lipoproteins induce foam cell formation by downregulation of lysosomal hydrolases in macrophages Published, JLR Papers in Press, August 25, 2007. (2007) (28)
- Gaucher disease and SARS-CoV-2 infection: Emerging management challenges (2020) (28)
- Gaucher disease: a prototype for molecular medicine. (1996) (27)
- Prevalence and management of Gaucher disease (2011) (26)
- Phospholipid membrane interactions of saposin C: in situ atomic force microscopic study. (2003) (26)
- Gaucher's disease: identification of novel mutant alleles and genotype–phenotype relationships (2003) (26)
- Fate and Sorting of Acid β-Glucosidase in Transgenic Mammalian Cells (2000) (26)
- Velaglucerase alfa in the treatment of Gaucher disease type 1. (2011) (25)
- Expression of functional human acid beta-glucosidase in COS-1 and Spodoptera frugiperda cells. (1989) (25)
- Human acid beta-glucosidase: use of sphingosyl and N-alkyl-glucosylamine inhibitors to investigate the properties of the active site. (1990) (25)
- Gaucher disease: progressive mesenteric and mediastinal lymphadenopathy despite enzyme therapy. (2007) (24)
- Cell cycle dependent intracellular distribution of two spliced isoforms of TCP/ILF3 proteins. (2003) (24)
- Treatment perspectives for the lysosomal storage diseases. (2008) (23)
- Viable Mouse Models of Acid β-Glucosidase Deficiency (2003) (23)
- Gaucher disease: considerations in prenatal diagnosis (2000) (23)
- Murine Acid α-Glucosidase: Cell-Specific mRNA Differential Expression during Development and Maturation (1999) (23)
- Reversal of advanced disease in lysosomal acid lipase deficient mice: a model for lysosomal acid lipase deficiency disease. (2014) (23)
- Functional Organization of Saposin C DEFINITION OF THE NEUROTROPHIC AND ACID (cid:98) -GLUCOSIDASE ACTIVATION REGIONS* (1996) (23)
- Saposin C: Neuronal Effect and CNS Delivery by Liposomes (2005) (22)
- Immune thrombocytopenia and Gaucher's disease. (1984) (22)
- Temporal gene expression profiling reveals CEBPD as a candidate regulator of brain disease in prosaposin deficient mice (2008) (22)
- Spiral Ganglion Degeneration and Hearing Loss as a Consequence of Satellite Cell Death in Saposin B-Deficient Mice (2015) (22)
- Analyses of Variant Acid (cid:1) -Glucosidases EFFECTS OF GAUCHER DISEASE MUTATIONS * (2005) (21)
- Is E326K glucocerebrosidase a polymorphic or pathological variant? (2012) (21)
- Identification and sequencing of a putative variant of proopiomelanocortin in human epidermis and epidermal cells in culture. (1998) (21)
- Multiple interactions between the alpha2C- and beta1-adrenergic receptors influence heart failure survival (2008) (21)
- Acid beta-glucosidase: intrinsic fluorescence and conformational changes induced by phospholipids and saposin C. (1998) (20)
- Advances in the treatment of inherited metabolic diseases. (1981) (20)
- LAL (Lysosomal Acid Lipase) Promotes Reverse Cholesterol Transport In Vitro and In Vivo (2018) (20)
- Up‐regulation of prosaposin by the retinoid HPR and the effect on ceramide production and integrin receptors (2001) (20)
- Gaucher disease: Basic and translational science needs for more complete therapy and management. (2020) (19)
- Translational inefficiency of acid beta-glucosidase mRNA in transgenic mammalian cells. (1998) (19)
- Phenotypic correction of lipid storage and growth arrest in wolman disease fibroblasts by gene transfer of lysosomal acid lipase. (2001) (19)
- Activation of p38 Mitogen-Activated Protein Kinase in Gaucher’s Disease (2015) (19)
- Use of activators and inhibitors to define the properties of the active site of normal and Gaucher disease lysosomal beta-glucosidase. (1985) (18)
- Role of Sp Proteins and RORα in Transcription Regulation of Murine Prosaposin* (1998) (18)
- Human acid beta-glucosidase: affinity purification of the normal placental and Gaucher disease splenic enzymes on N-alkyl-deoxynojirimycin-sepharose. (1986) (18)
- Conformational and amino acid residue requirements for the saposin C neuritogenic effect. (1999) (18)
- Altered autophagy in the mice with a deficiency of saposin A and saposin B (2013) (18)
- Translation modulation of acid beta-glucosidase in HepG2 cells: participation of the PKC pathway. (2005) (17)
- Delivery of lysosomal enzymes for therapeutic use: glucocerebrosidase as an example (2006) (17)
- Systemic enzyme delivery by blood-brain barrier-penetrating SapC-DOPS nanovesicles for treatment of neuronopathic Gaucher disease (2020) (17)
- Prevalence of type 1 Gaucher disease in the United States. (2008) (16)
- Participation of asparagine 370 and glutamine 235 in the catalysis by acid beta-glucosidase: the enzyme deficient in Gaucher disease. (2009) (16)
- Treatment perspectives for the lysosomal storage diseases (2008) (16)
- The LIMP-2/SCARB2 Binding Motif on Acid β-Glucosidase (2014) (16)
- Gaucher Disease: Transcriptome Analyses Using Microarray or mRNA Sequencing in a Gba1 Mutant Mouse Model Treated with Velaglucerase alfa or Imiglucerase (2013) (15)
- Lysosomal Storage Disease 1 Phenotype, diagnosis, and treatment of Gaucher’s disease (2008) (15)
- Combination of acid β-glucosidase mutation and Saposin C deficiency in mice reveals Gba1 mutation dependent and tissue-specific disease phenotype (2019) (15)
- Novel mutations in type 2 Gaucher disease in Chinese and their functional characterization by heterologous expression (2005) (15)
- Therapy for lysosomal acid lipase deficiency: Replacing a missing link (2013) (15)
- Tissue-specific effects of saposin A and saposin B on glycosphingolipid degradation in mutant mice. (2013) (15)
- Chitinase-3-like Protein 1: A Progranulin Downstream Molecule and Potential Biomarker for Gaucher Disease (2018) (15)
- Hexosaminidase a activity and amyotrophic lateral sclerosis (1988) (14)
- Neuronopathic lysosomal storage diseases: clinical and pathologic findings. (2013) (14)
- Overview of Inflammation in Neurometabolic Diseases. (2017) (14)
- Comparative evaluation of alpha-galactosidase A infusions for treatment of Fabry disease. (2003) (14)
- Gaucher disease: Resetting the clinical and scientific agenda (2009) (14)
- In Vivo and Ex Vivo Evaluation of L-Type Calcium Channel Blockers on Acid β-Glucosidase in Gaucher Disease Mouse Models (2009) (14)
- Comparative physical, kinetic and immunologic properties of the acidic and neutral alpha-D-mannosidase isozymes from human liver. (1980) (14)
- Progression of Behavioral and CNS Deficits in a Viable Murine Model of Chronic Neuronopathic Gaucher Disease (2016) (13)
- Human acid beta-glucosidase: glycosylation is required for catalytic activity. (1990) (13)
- Isolation and characterization of the human prosaposin promoter. (1998) (13)
- Extraosseous extension of Gaucher cell deposits mimicking malignancy (1994) (13)
- Prosaposin is a novel androgen‐regulated gene in prostate cancer cell line LNCaP (2007) (13)
- Gaucher disease: In vivo evidence for allele dose leading to neuronopathic and nonneuronopathic phenotypes (2003) (13)
- Evidence for carrier proteins in bile acid synthesis. The effect of squalene and sterol carrier protein and albumin on the activity of 12alpha-hydroxylase. (1976) (13)
- Gaucher disease: fate of the splenic remnant after partial splenectomy--a case of rapid enlargement. (1989) (12)
- An in situ study of beta‐glucosidase activity in normal and gaucher fibroblasts with fluorogenic probes (1993) (12)
- Analyses of temporal regulatory elements of the prosaposin gene in transgenic mice. (2003) (12)
- Synthesis and use of novel fluorescent glycosphingolipids for estimating beta-glucosidase activity in vitro in the absence of detergents and subtyping Gaucher disease variants following administration into intact cells. (1993) (12)
- Effect of cellular type on expression of acid beta-glucosidase: implications for gene therapy in Gaucher disease. (1995) (11)
- Enzyme therapy XVII: metabolic and immunologic evaluation of alpha- galactosidase A replacement in Fabry disease. (1980) (10)
- The mouse prosaposin locus: promoter organization. (1997) (10)
- Conditional expression of human acid beta-glucosidase improves the visceral phenotype in a Gaucher disease mouse model. (2006) (10)
- Molecular cloning of a human co-beta-glucosidase cDNA: evidence that four sphingolipid hydrolase activator proteins are encoded by single genes in humans and rats. (1989) (10)
- Gaucher disease mouse models: point mutations at the acid β-glucosidase locus combined with low-level prosaposin expression lead to disease variants Published, JLR Papers in Press, August 1, 2005. DOI 10.1194/jlr.M500202-JLR200 (2005) (9)
- Metabolic Profiling and Quantification of Sphingolipids by Liquid Chromatography-Tandem Mass Spectrometry (2013) (9)
- Murine acid alpha-glucosidase: cell-specific mRNA differential expression during development and maturation. (1999) (9)
- Prosaposin: promoter analysis and central-nervous-system-preferential elements for expression in vivo. (2000) (9)
- Substrate Reduction Therapy Reverses Mitochondrial, mTOR, and Autophagy Alterations in a Cell Model of Gaucher Disease (2021) (8)
- Human mannosidosis: in vitro and in vivo studies of cofactor supplementation. (1980) (8)
- Ex vivo localization of the mouse saposin C activation region for acid beta-glucosidase. (2002) (8)
- Analyses of Variant Acid β-Glucosidases (2006) (8)
- Ubiquitous Transgene Expression of the Glucosylceramide-Synthesizing Enzyme Accelerates Glucosylceramide Accumulation and Storage Cells in a Gaucher Disease Mouse Model (2014) (8)
- Gaucher disease in the dog. (1982) (8)
- Oculomotor abnormalities in chronic GM2 gangliosidosis. (1982) (8)
- Acid β-Glucosidase 1 Counteracts p38δ-dependent Induction of Interleukin-6 (2009) (8)
- Norwegian scabies in the immunocompromised patient. (2004) (7)
- Advances in Gaucher Disease: Basic and Clinical Perspectives (2013) (7)
- First Trimester Fetal Diagnosis: Principles and Potential Pitfalls in Enzymatic and Molecular Diagnoses (1985) (6)
- Endogenous β-glucocerebrosidase activity in Abca12−/−epidermis elevates ceramide levels after topical lipid application but does not restore barrier function (2014) (6)
- Temporal and Spatial Expression of Murine Acid β-Glucosidase mRNA (2001) (6)
- ENZYME MANIPULATION: EVALUATION OF ORAL ZnSO4 SUP-PLEMENTATION IN MANNOSIDOSIS TYPE II (1977) (6)
- Intravenous infusion of iPSC-derived neural precursor cells increases acid β-glucosidase function in the brain and lessens the neuronopathic phenotype in a mouse model of Gaucher disease. (2019) (6)
- Position statement: National Gaucher Foundation Medical Advisory Board, January 7, 2014 (2014) (6)
- Hyaluronic acid and dermatan sulfate in non-lesional pseudoxanthoma elasticum skin. (1995) (6)
- C-X-C Motif Chemokine Ligand 9 and Its CXCR3 Receptor Are the Salt and Pepper for T Cells Trafficking in a Mouse Model of Gaucher Disease (2021) (6)
- Temporal and spatial expression of murine acid beta-glucosidase mRNA. (2001) (5)
- Perspectives on gene therapy for lysosomal storage diseases that affect hematopoiesis. (2003) (5)
- Screening, patient identification, evaluation, and treatment in patients with Gaucher disease: Results from a Delphi consensus. (2021) (5)
- Ultrasonic Bone Tissue Characterization in Gaucher Disease Type I (1992) (5)
- Enzyme therapy is not enough (2001) (5)
- Gaucher type I (Ashkenazi) disease: considerations for heterozygote detection and prenatal diagnosis. (1982) (5)
- Gaucher Disease: Basic and Clinical Perspectives (2013) (4)
- 114. Pharmacological chaperone therapy for Gaucher disease: Mechanism of action, a survey of responsive mutations and phase I clinical trial results (2008) (4)
- Gaucher Disease: Enzymatic and Molecular Studies (1988) (4)
- Prenatal diagnosis of inherited metabolic diseases; principles, pitfalls, and prospects. (1982) (4)
- Emerging Treatments and Future Outcomes (2012) (4)
- Ten plus one challenges in diseases of the lysosomal system. (2017) (4)
- Molecular Biology and Enzymology of Human Acid β-Glucosidase (1993) (4)
- Fate and sorting of acid beta-glucosidase in transgenic mammalian cells. (2000) (4)
- Membrane anchors effectively traffic recombinant human glucocerebrosidase to the protein storage vacuole of Arabidopsis seeds but do not adequately control N-glycan maturation (2014) (3)
- 1 GAUCHER DISEASE : EX VIVO AND IN VIVO EFFECTS OF ISOFAGOMINE ON ACID β-GLUCOSIDASE VARIANTS AND SUBSTRATE LEVELS (2011) (3)
- Blue nasal secretions: A presentation of Gaucher's disease and concurrent hemosiderosis (1993) (3)
- Conditional expression of human acid β-glucosidase improves the visceral phenotype in a Gaucher disease mouse model Published, JLR Papers in Press, July 21, 2006. (2006) (3)
- Gaucher disease, a century of delineation and research : proceedings of the First International Symposium on Gaucher Disease, held in New York City, July 22-24, 1981 (1982) (3)
- Determination of Sphingomyelinase Activity in Cells and Body Fluids Using a New Fluorescent Derivative Of Sphingomyelin: Application to Diagnosis of Niemann-Pick Disease (1988) (3)
- 35. Guidelines for the assessment and monitoring of bone disease in children with Gaucher disease (2008) (3)
- 24 Genz-112638: A novel orally available ceramide-based inhibitor of glucosylceramide synthase for treating Gaucher disease (2007) (2)
- Gaucher disease: a membranous enzymopathy. (1982) (2)
- Roscoe Owen Brady, MD: Remembrances of co-investigators and colleagues. (2017) (2)
- Liver Disease in Children: The Liver in Lysosomal Storage Diseases (2007) (2)
- JCL Roundtable: enzyme replacement therapy for lipid storage disorders. (2014) (2)
- Cell Biology and Biochemistry of Acid beta-Glucosidase: The Gaucher Disease Enzyme (2006) (2)
- Pharmacological Chaperone Therapy for the Treatment of Gaucher Disease: Results of Phase 1 Clinical Trials and a Clinical Ex Vivo Response Study with a Survey of Blood Markers for 53 Gaucher Patients. (2007) (2)
- Role of saposin C and D in auditory and vestibular function (2016) (2)
- In vivo roles of RORalpha and Sp4 in the regulation of murine prosaposin gene. (2001) (2)
- The LIMP-2 / SCARB 2 Binding Motif on Acid-Glucosidase BASIC AND APPLIED IMPLICATIONS FOR GAUCHER DISEASE AND ASSOCIATED NEURODEGENERATIVE (2014) (2)
- Abnormal pathology findings in a patient with Gaucher disease type 3 treated with enzyme replacement therapy (2013) (2)
- In Vivo Roles of RORα and Sp4 in the Regulation of Murine Prosaposin Gene (2001) (2)
- 36. Dose–response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type I (2008) (2)
- Gaucher's disease. Enzyme therapy is not enough. (2001) (2)
- Therapies for lysosomal storage diseases: Principles, practice, and prospects for refinements based on evolving science. (2022) (2)
- C5a drives glucosylceramide accumulation and tissue inflammation in Gaucher disease (2016) (1)
- Immune cells attack and neurodegeneration in Gaucher disease (2016) (1)
- Enzyme replacement therapy corrects Lysosomal Acid Lipase Deficiency (LALD) in a mouse model of Wolman disease/cholesteryl ester storage disease (2011) (1)
- 854. Feasibility of AAV-Mediated Gene Therapy Examined Using a New Murine Model (D409V/null) of Gaucher Disease (2004) (1)
- Response to "Letter to the Editor by Drs Block and Razani". (2016) (1)
- Genetic Variation and Gene Discovery (2012) (1)
- Genetic Heterogeneity of Gaucher Disease: Enzymatic and Immunologic Studies (1986) (1)
- Human Acid β-Glucosidase: Primary Structure of the Active Site (1986) (1)
- Glucosylceramide induced complement activation triggers inflammation in Gaucher disease (CCR5P.212) (2015) (1)
- Animal Model Viable Mouse Models of Acid (cid:1) -Glucosidase Deficiency The Defect in Gaucher Disease (2003) (1)
- Therapeutic Goals in the Treatment of Gaucher (2004) (1)
- Role of Sp Proteins and RORa in Transcription Regulation of (1998) (1)
- Supply-side and trickle-down therapy. (1999) (1)
- Lysosomal Storage Disorders in Children (2021) (1)
- Treatment of Gaucher's disease. (1993) (1)
- Phenotypic Spectrum of Hematological and Visceral Disease in Type 3 Gaucher Disease and Response to Imiglucerase Therapy: Preliminary Analysis from the ICGG Gaucher Registry (2012) (1)
- 187Gaucher disease: glucosylceramide-mediated TLR4-MyD88 induction causes enhanced CXCL-13 secretion and increased B cell trafficking in a mouse model (2014) (1)
- A comprehensive method for GBA whole gene-sequencing with a rapid first step screening of known Gaucher Disease mutations (2002) (1)
- Liver Disease in Children: Lysosomal storage disorders (2014) (1)
- Enzyme Replacement Therapy in Gaucher Disease: Beneficial Effects on Bone Crisis and Bone Pain. (2004) (1)
- Inborn Errors of Metabolism (2001) (1)
- Biochemistry and Molecular Biology Acid p-Glucosidase: Enzymology And Molecular Biology of Gaucher Disease (1990) (1)
- Cytology of Gaucher disease (2013) (1)
- Gaucher disease: Pseudoreversion of a disease mutation`s effects--implications for structure/function and genotype/phenotype correlations (1994) (1)
- A Historical Chart Review and Longitudinal Follow-Up of Identified Patients with Wolman Disease or Cholesteryl Ester Storage Disease, Lysosomal Acid Lipase Deficiency (2012) (1)
- herapeutic Goals in the Treatment of Gaucher isease (2004) (0)
- 53. Epidemiology and natural history of Wolman and cholesteryl ester storage diseases (2010) (0)
- 97. Long-term outcome of hematopoietic cell transplantation for Wolman disease (2008) (0)
- T1617 Therapeutic Effect of Increased Hepatic Lysosomal Acid Lipase in a Murine Model of Non-Alcoholic Fatty Liver Disease (NAFLD) (2009) (0)
- Glucosylceramide partnership with immunological villain in Gaucher disease (2017) (0)
- C5a mediated increases of CD40 and CD40L molecules on dendritic and T cells are critical to Th1–Th17 mediated inflammation in Gaucher disease model (2013) (0)
- Molecular analysis of tissues (1988) (0)
- A Collaborative Bioinformatics Minor Design (2009) (0)
- 43. Therapeutic effect of recombinant human lysosomal acid lipase in nonalcoholic fatty liver disease mouse model (2009) (0)
- 112. Role of Saposin C in multivesicular body bioformation and Neuropathogenesis (2009) (0)
- Complement drives neurodegeneration in Gaucher disease (2017) (0)
- Cell non-autonomous neuronal death implied by neuronal differentiation of induced pluripotent stem cells from Gaucher disease type 2 fibroblasts (2013) (0)
- 374. Therapeutic Effect of Platelet Transfusions for Acute Neuronopathic Gaucher Disease (2015) (0)
- Lysosomal Disease Network's "WORLD Symposium 2008" (2008) (0)
- 482 Safety and Efficacy of Velaglucerase Alfa in Gaucher Disease Type 1 Patients Previously Treated with Imiglucerase (2010) (0)
- Combination of acid β-glucosidase mutation and Saposin C deficiency in mice reveals Gba1 mutation dependent and tissue-specific disease phenotype (2019) (0)
- Human lysosomal beta-glucosidase: purification by affinity chromatography. (1984) (0)
- Current Issues in Enzyme Therapy for Gaucher Disease (1996) (0)
- Enzyme therapy in Gaucher disease : Progress, pitfalls and perspectives (1996) (0)
- Gaucher disease isolation of a mutant complementary dna and identification of an etiologic point mutation in the ashkenazi jewish type 1 non neuronopathic variant (1988) (0)
- Clinical, biochemical and histopathological effects of 11 years of enzyme therapy in Gaucher disease type III: Unexpected CNS vascular and cellular manifestations (2014) (0)
- Developmental andTissue-Specific Expression ofProsaposin mRNAinMurine Tissues (1994) (0)
- Use of lysosomal acid lipase for treatment of atherosclerosis and related diseases (2001) (0)
- GAUCHER DISEASE AND APPLIED IMPLICATIONS FOR-Glucosidase : BASIC AND β Acid The LIMP-2 / SCARB 2 Binding Motif on Protein Structure and Folding : (2014) (0)
- Lysosomal Disease Network's "WORLD Symposium 2009". Introduction. (2009) (0)
- Analyses of Agalsidase Alfa and Agalsidase Beta for the Treatment of Fabry Disease (2010) (0)
- Complement activation causes oncogene expression in Gaucher disease (2019) (0)
- Lipidomics of Gaucher disease: Substrate composition and nature is dependent on tissue/region and acid β-glucosidase mutations – phenotypic and therapeutic implications (2011) (0)
- Afterword (2015) (0)
- -Glucosidase β Antibodies to Acid Enzyme Therapy in Gaucher Disease Type 1: Effect of Neutralizing (2013) (0)
- Properties of wild-type and mutant glucocerebrosidases (2013) (0)
- GOAL-GD: A smartphone application to enhance patient engagement in a real-world study of treatment switching in patients with Gaucher disease type 1 (2022) (0)
- Therapie a base de lipase acide lysosomiale destinee au traitement de la steatose hepatique non alcoolique et de maladies associees (2006) (0)
- Acid β-glucosidase insufficiency activates the C-X-C Motif Chemokine Ligand 9/CXCR3 axis leading to T cell mediated inflammation in Gaucher disease (2022) (0)
- 58. Longitudinal natural history studies of Wolman and cholesteryl ester storage diseases (2009) (0)
- Gaucher Disease Animal Models (2006) (0)
- Velaglucerase alfa in the treatment of Gaucher disease type 1: an update (2015) (0)
- 100. Reprogramming HSC-derived erythroid cells for lysosomal enzyme production leads to visceral and CNS cross-correction in mice with MPS type I (2010) (0)
- Molecular abnormalities in Gaucher disease tissues (2013) (0)
- 2-YEAR SAFETY AND TOLERABILITY OF VELAGLUCERASE ALFA ENZYME REPLACEMENT THERAPY (ERT) IN PATIENTS WITH TYPE 1 GAUCHER DISEASE (GD1) SWITCHING FROM IMIGLUCERASE (2011) (0)
- EFFICACY OF VELAGLUCERASE ALFA IN PATIENTS WITH TYPE 1 GAUCHER DISEASE (GD1) TRANSITIONED FROM IMIGLUCERASE: PHASE II/III TRIALTKT034 AND EXTENSION 2-YEAR RESULTS (2011) (0)
- Component-Based Professional Science Master in Bioinformatics (2010) (0)
- Gaucher disease: A G[sup +1][yields]A[sup +1] IVS2 splice donor site mutation causing exon 2 skipping in the acid [beta]-glucosidase mRNA (1992) (0)
- Membrane anchors effectively traffic recombinant human glucocerebrosidase to the protein storage vacuole of Arabidopsis seeds but do not adequately control N-glycan maturation (2014) (0)
- Lysosomal acid lipase use in treating atherosclerosis and related diseases (2001) (0)
- PNAS Plus Significance Statements (2014) (0)
- Combination therapy (eliglustat + velaglucerase alfa) in a pediatric patient with Gaucher disease type 1 and hereditary spherocytosis (2015) (0)
- Inherited Diseases of Intermediary Metabolism: Molecular Basis (2001) (0)
- Crystal structure of partially deglycosylated acid beta-glucosidase (2005) (0)
- 29. Genetic and pharmacological chaperone modulation of brain GCase activity affects synuclein accumulation in mice (2010) (0)
- Gaucher Disease: A GI `-)Al' IVS2 Splice Donor Site Mutation Causing Exon 2 Skipping in the Acid P-GIucosidase mRNA (2006) (0)
- 415: Cross-Talk between Androgen Receptor and Prosaposin in Prostate Cancer and Stromal Cells Supports a Potential Mechanism for Antiandrogen Withdrawal Syndrome (2006) (0)
- Abstract 420: Lysosomal Acid Lipase Deficiency Impairs Reverse Cholesterol Transport From Macrophages in LAL-Deficient Mice (2014) (0)
- Unexpected regulation of a `housekeeping gene:` Spatial and temporal expression of a multifunctional lysosomal gene, prosaposin (1994) (0)
- Developing Brain Imaging Markers of Treatment Response and Progression in Mucopolysaccharidosis Type II (2012) (0)
- 137. In vivo evaluation of small molecule therapy on Gaucher disease mouse models (2009) (0)
- How did we get here and where are we going (2014) (0)
- Acid beta-Glucosidase/Glucocerebrosidase (GCase) (2016) (0)
- Lysosomal acid lipase use to treat arteriosclerosis and associated diseases. (2001) (0)
- 527 DRAMATIC CLINICAL RESPONSE TO COFACTOR THERAPY IN ADVANCED METHYLMALONIC ACIDEMIA (MMA) (1978) (0)
- in adults receiving enzyme therapy Gaucher disease: alendronate disodium improves bone mineral density (2013) (0)
- 45 Mouse models of Gaucher disease: Insights into visceral and CNS disease progression (2007) (0)
- 910. AAV8-Mediated Expression of Glucocerebrosidase Ameliorates the Storage Pathology in the D409V/null Gaucher Mouse (2005) (0)
- 148. A validated disease severity scoring system for gaucher disease type 1 (2009) (0)
- Lysosomal Storage Disorders (2007) (0)
- 521. Platelets Transfusion New Role as Brain Therapeutics for Acute Neuronopathic Gaucher Disease (2016) (0)
- 11. Increasing expression of glucosylceramide-synthesizing enzyme in mouse models of Gaucher disease (2009) (0)
- 117. Development of a disease severity scoring system for type I Gaucher disease (2008) (0)
- Lysosomal Diseases and the Brain Conference Organized by the Children ’ s Gaucher Research Fund---Speaker (2010) (0)
- PNPLA6 MUTATIONS CAUSE OLIVER-MCFARLANE SYNDROME (2015) (0)
- New enzyme therapies on horizon for lysosomal storage diseases (2001) (0)
- The prosaposin gene downregulates oxidative stress–induced apoptosis in human retinal pigment epithelial cells: Hammerhead ribozymes and proximal promoter studies (2004) (0)
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