Genomes and Genes
Gene Symbol: Gba
Description: glucosidase, beta, acid
Alias: GBA1, GCase, GLUC, betaGC, glucosylceramidase, D-glucosyl-N-acylsphingosine glucohydrolase, acid beta glucosidase, beta-glucocerebrosidase, glucocerebrosidase
- Glycine receptor beta-subunit gene mutation in spastic mouse associated with LINE-1 element insertionS F Kingsmore
Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710
Nat Genet 7:136-41. 1994..These results provide evidence that Glrb is necessary for postsynaptic expression of glycine receptor complexes, and suggest Glrb as a candidate gene for inherited myoclonus in other species...
- Specific saposin C deficiency: CNS impairment and acid beta-glucosidase effects in the mouseYing Sun
Division of Human Genetics, Cincinnati Children s Hospital Medical Center, Cincinnati, OH, USA
Hum Mol Genet 19:634-47. 2010..system (CNS) phenotype attributed to diminished glucosylceramide (GC) cleavage activity by acid beta-glucosidase (GCase)...
- Spatial and temporal correlation between neuron loss and neuroinflammation in a mouse model of neuronopathic Gaucher diseaseTamar Farfel-Becker
Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
Hum Mol Genet 20:1375-86. 2011..disease (GD), the most common lysosomal storage disorder, is caused by a deficiency in the lysosomal enzyme glucocerebrosidase (GlcCerase), which results in intracellular accumulation of glucosylceramide (GlcCer)...
- Global gene expression profile progression in Gaucher disease mouse modelsYou Hai Xu
The Division of Human Genetics, Cincinnati Children s Hospital Research Foundation, Cincinnati, OH 45229 3039, USA
BMC Genomics 12:20. 2011Gaucher disease is caused by defective glucocerebrosidase activity and the consequent accumulation of glucosylceramide...
- Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophagePramod K Mistry
Department of Pediatrics, Yale School of Medicine, New Haven, CT 06562, USA
Proc Natl Acad Sci U S A 107:19473-8. 2010In nonneuronopathic type 1 Gaucher disease (GD1), mutations in the glucocerebrosidase gene (GBA1) gene result in glucocerebrosidase deficiency and the accumulation of its substrate, glucocerebroside (GL-1), in the lysosomes of mononuclear ..
- Intracerebroventricular delivery of glucocerebrosidase reduces substrates and increases lifespan in a mouse model of neuronopathic Gaucher diseaseM A Cabrera-Salazar
Genzyme Corporation, Framingham, MA 01701, USA
Exp Neurol 225:436-44. 2010Gaucher disease is caused by a deficit in the enzyme glucocerebrosidase. As a consequence, degradation of the glycolipids glucosylceramide (GluCer) and glucosylsphingosine (GluSph) is impaired, and their subsequent buildup can lead to ..
- Altered expression and distribution of cathepsins in neuronopathic forms of Gaucher disease and in other sphingolipidosesEinat B Vitner
Department of Biological Chemistry, Weizmann Institute of Science, Rehovot, Israel
Hum Mol Genet 19:3583-90. 2010..Recently, a mouse model of neuronopathic GD was generated in which glucocerebrosidase deficiency is limited to neural and glial progenitor cells...
- Mice with type 2 and 3 Gaucher disease point mutations generated by a single insertion mutagenesis procedureY Liu
Section on Biochemical Genetics, Genetics and Biochemistry Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA
Proc Natl Acad Sci U S A 95:2503-8. 1998Gaucher disease is caused by mutations in the gene encoding the lysosomal enzyme glucocerebrosidase (GC)...
- Accumulation of protein-bound epidermal glucosylceramides in beta-glucocerebrosidase deficient type 2 Gaucher miceT Doering
Kekule Institut fur Organische Chemie und Biochemie, Universitat Bonn, Germany
FEBS Lett 447:167-70. 1999..membranes, derive in large part from hydrolysis of glucosylceramides mediated by the lysosomal enzyme beta-glucocerebrosidase. As analyzed in this work, the beta-glucocerebrosidase deficiency in type 2 Gaucher mice (RecNci I) resulted ..
- The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidaseRichie Khanna
Amicus Therapeutics, Cranbury, NJ, USA
FEBS J 277:1618-38. 2010Gaucher disease is caused by mutations in the gene that encodes the lysosomal enzyme acid beta-glucosidase (GCase)...
- Glucosylsphingosine accumulation in mice and patients with type 2 Gaucher disease begins early in gestationE Orvisky
Clinical Neuroscience Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, Marvland 20892 4405, USA
Pediatr Res 48:233-7. 2000Gaucher disease, the most common of the sphingolipidoses, results from the inherited deficiency of the enzyme glucocerebrosidase (EC 188.8.131.52)...
- 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 deficitsYing Sun
The Division of Human Genetics, Cincinnati Children s Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229 3039, USA
Hum Mol Genet 19:1088-97. 2010Gaucher disease is caused by defective acid beta-glucosidase (GCase) function. Saposin C is a lysosomal protein needed for optimal GCase activity...
- Accumulation and distribution of α-synuclein and ubiquitin in the CNS of Gaucher disease mouse modelsY H Xu
Division of Human Genetics, Children s Hospital Medical Center, Cincinnati, Ohio 45229 3039, USA
Mol Genet Metab 102:436-47. 2011Gaucher disease, a prevalent lysosomal storage disease, is caused by insufficient activity of acid β-glucosidase (GCase) and resultant glucosylceramide accumulation...
- Systemic inflammation in glucocerebrosidase-deficient mice with minimal glucosylceramide storageHiroki Mizukami
Genetics of Development and Disease Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
J Clin Invest 109:1215-21. 2002Gaucher disease, the most common lysosomal storage disease, is caused by a deficiency of glucocerebrosidase resulting in the impairment of glucosylceramide degradation...
- Saposin C is required for normal resistance of acid beta-glucosidase to proteolytic degradationYing Sun
Division and Program in Human Genetics, Children s Hospital Research Foundation, Cincinnati, Ohio 45229 3039, USA
J Biol Chem 278:31918-23. 2003..In the lysosomal sphingolipid degradation pathway, acid beta-glucosidase (GCase) requires saposin C for optimal in vitro and in vivo hydrolysis of glucocerebroside...
- Viable mouse models of acid beta-glucosidase deficiency: the defect in Gaucher diseaseYou Hai Xu
Divisions of Human Genetics and Pathology, Cincinnati Children s Hospital Research Foundation, 3333 Burnet Avenue, Cincinnati, Ohio 45229 3039, USA
Am J Pathol 163:2093-101. 2003Gaucher disease is an autosomal recessively inherited disease caused by mutations at the acid beta-glucosidase (GCase) locus (GBA)...
- Dependence of reversibility and progression of mouse neuronopathic Gaucher disease on acid beta-glucosidase residual activity levelsYou Hai Xu
The Divisions of Human Genetics, Cincinnati Children s Hospital Medical Center, 3333 Burnet Avenue, MLC 4006, Cincinnati, OH 45229 3039, USA
Mol Genet Metab 94:190-203. 2008..The lethality of the skin permeability barrier defect of the complete gene knock out [gba, (glucocerebrosidase) GCase] was avoided by conditional reactivation of a low activity allele (D409H) in keratinocytes (kn-9H)...
- Gaucher disease mouse models: point mutations at the acid beta-glucosidase locus combined with low-level prosaposin expression lead to disease variantsYing Sun
Division and Program in Human Genetics, Children s Hospital Research Foundation, Cincinnati, OH 45229 3039, USA
J Lipid Res 46:2102-13. 2005Gaucher disease is a common lysosomal storage disease caused by a defect of acid beta-glucosidase (GCase)...
- A specific and potent inhibitor of glucosylceramide synthase for substrate inhibition therapy of Gaucher diseaseKerry Anne McEachern
Genzyme Corporation, 31 New York Avenue, Framingham, MA 01701 9322, USA
Mol Genet Metab 91:259-67. 2007..These data indicate that substrate inhibition therapy with Genz-112638 represents a viable alternate approach to enzyme therapy to treat the visceral pathology in Gaucher disease...
- Conditional expression of human acid beta-glucosidase improves the visceral phenotype in a Gaucher disease mouse modelYing Sun
Division of Human Genetics, Children s Hospital Research Foundation and University of Cincinnati College of Medicine, Department of Pediatrics, Cincinnati, OH 45229 3039, USA
J Lipid Res 47:2161-70. 2006..4L/PS-NA has the acid beta-glucosidase (GCase) V394L/V394L (4L) point mutation combined with hypomorphic ( approximately 6% wild-type) expression of the mouse ..
- Downregulation of neurotrophic factors in the brain of a mouse model of Gaucher disease; implications for neuronal loss in Gaucher diseaseEun Young Kim
Department of Biomedical Sciences, National Institute of Health, Seoul 122 701, Korea
Exp Mol Med 38:348-56. 2006Gaucher disease is a glycosphingolipid storage disease caused by deficiency of glucocerebrosidase, resulting in the accumulation of glucosylceramide in lysosomes...
- Effective cell and gene therapy in a murine model of Gaucher diseaseIda Berglin Enquist
Department of Molecular Medicine and Gene Therapy, Institute of Laboratory Medicine, and Lund Strategic Research Center for Stem Cell Biology and Cell Therapy, Lund University, BMC A12, 221 84 Lund, Sweden
Proc Natl Acad Sci U S A 103:13819-24. 2006Gaucher disease (GD) is a lysosomal storage disorder due to an inherited deficiency in the enzyme glucosylceramidase (GCase) that causes hepatosplenomegaly, cytopenias, and bone disease as key clinical symptoms...
- Generation of a conditional knockout of murine glucocerebrosidase: utility for the study of Gaucher diseaseGraham B Sinclair
Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, 950 W28th Ave Vancouver, BC, Canada V5Z 4H4
Mol Genet Metab 90:148-56. 2007..is a disorder of sphingolipid metabolism resulting from an inherited deficiency of the lysosomal hydrolase glucocerebrosidase. Affected individuals present with a spectrum of clinical symptoms ranging from hepatosplenomegaly, ..
- Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher diseaseW M Holleran
Department of Dermatology, University of California School of Medicine, San Francisco 94143
J Clin Invest 93:1756-64. 1994Hydrolysis of glucosylceramide by beta-glucocerebrosidase results in ceramide, a critical component of the intercellular lamellae that mediate the epidermal permeability barrier...
- Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathiesJoseph R Mazzulli
Department of Neurology, Massachusetts General Hospital, Harvard Medical School, MassGeneral Institute for Neurodegenerative Disease, Charlestown, MA 02129, USA
Cell 146:37-52. 2011..Here, we show that functional loss of GD-linked glucocerebrosidase (GCase) in primary cultures or human iPS neurons compromises lysosomal protein degradation, causes ..
- CNS expression of glucocerebrosidase corrects alpha-synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathyS Pablo Sardi
Genzyme Corporation, Framingham, MA 01701, USA
Proc Natl Acad Sci U S A 108:12101-6. 2011..and Gba1(+/-)) Gaucher mice indicated that these pathologies are a result of the combination of a loss of glucocerebrosidase activity and a toxic gain-of-function resulting from expression of the mutant enzyme...
- Ex vivo and in vivo effects of isofagomine on acid β-glucosidase variants and substrate levels in Gaucher diseaseYing Sun
Division of Human Genetics, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio 45229 3039, USA
J Biol Chem 287:4275-87. 2012Isofagomine (IFG) is an acid β-glucosidase (GCase) active site inhibitor that acts as a pharmacological chaperone. The effect of IFG on GCase function was investigated in GCase mutant fibroblasts and mouse models...
- Beta-glucosidase 1 (GBA1) is a second bile acid β-glucosidase in addition to β-glucosidase 2 (GBA2). Study in β-glucosidase deficient mice and humansKlaus Harzer
Neurometabolic Laboratory, Klinik fur Kinder und Jugendmedizin, University of Tubingen, Tubingen, Germany
Biochem Biophys Res Commun 423:308-12. 2012Beta-glucosidase 1 (GBA1; lysosomal glucocerebrosidase) and β-glucosidase 2 (GBA2, non-lysosomal glucocerebrosidase) both have glucosylceramide as a main natural substrate...
- A biochemical and ultrastructural evaluation of the type 2 Gaucher mouseR Willemsen
Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands
Mol Chem Neuropathol 24:179-92. 1995Gaucher mice, created by targeted disruption of the glucocerebrosidase gene, are totally deficient in glucocerebrosidase and have a rapidly deteriorating clinical course analogous to the most severely affected type 2 human patients...
- Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase geneV L Tybulewicz
Whitehead Institute for Biomedical Research, Massachusetts Institute of Technology, Cambridge 02142
Nature 357:407-10. 1992..lysosomal storage disorder in humans and results from an autosomally inherited deficiency of the enzyme glucocerebrosidase (beta-D-glucosyl-N-acylsphingosine glucohydrolase), which is responsible for degrading the sphingolipid ..
- RIPK3 as a potential therapeutic target for Gaucher's diseaseEinat B Vitner
1 Department of Biological Chemistry, Weizmann Institute of Science, Rehovot, Israel 2
Nat Med 20:204-8. 2014Gaucher's disease (GD), an inherited metabolic disorder caused by mutations in the glucocerebrosidase gene (GBA), is the most common lysosomal storage disease. Heterozygous mutations in GBA are a major risk factor for Parkinson's disease...
- Comparison of the chromosomal localization of murine and human glucocerebrosidase genes and of the deduced amino acid sequencesR R O'Neill
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, Bethesda, MD 20892
Proc Natl Acad Sci U S A 86:5049-53. 1989..evolution, we determined the nucleotide sequence and chromosomal location of the gene encoding murine glucocerebrosidase (glucosylceramidase; D-glucosyl-N-acylsphingosine glucohydrolase, EC 184.108.40.206)...
- Murine models of acute neuronopathic Gaucher diseaseIda Berglin Enquist
Molecular Medicine and Gene Therapy, Institute of Laboratory Medicine and the Strategic Research Center for Stem Cell Biology and Cell Therapy, Lund University, BMC A12, 221 84 Lund, Sweden
Proc Natl Acad Sci U S A 104:17483-8. 2007..disorder caused by mutations in the glucosidase, beta, acid (GBA) gene that encodes the lysosomal enzyme glucosylceramidase (GCase)...
- Murine VCAM-1. Molecular cloning, mapping, and analysis of a truncated formA G Kumar
Department of Internal Medicine, Baylor College of Medicine, Houston, TX 77030
J Immunol 153:4088-98. 1994..Thus, expression of VCAM-1 is restricted and controlled at the level of transcription and by alternative splicing...
- Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher diseasePramod K Mistry
Department of Medicine, Yale School of Medicine, New Haven, CT 06520
Proc Natl Acad Sci U S A 111:4934-9. 2014The inherited deficiency of the lysosomal glucocerebrosidase (GBA) due to mutations in the GBA gene results in Gaucher disease (GD). A vast majority of patients present with nonneuronopathic, type 1 GD (GD1)...
- A Next Generation Multiscale View of Inborn Errors of MetabolismCarmen A Argmann
Department of Genetics and Genomic Sciences and Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue, Box 1498, New York, NY 10029, USA Electronic address
Cell Metab 23:13-26. 2016..We foresee that panomics and network strategies combined with recent experimental innovations will facilitate this. ..
- Multiple pathogenic proteins implicated in neuronopathic Gaucher disease miceYou Hai Xu
The Division of Human Genetics and Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA
Hum Mol Genet 23:3943-57. 2014..disease, a prevalent lysosomal storage disease (LSD), is caused by insufficient activity of acid β-glucosidase (GCase) and the resultant glucosylceramide (GC)/glucosylsphingosine (GS) accumulation in visceral organs (Type 1) and the ..
- Neuroinflammation and α-synuclein accumulation in response to glucocerebrosidase deficiency are accompanied by synaptic dysfunctionEdward I Ginns
Lysosomal Disorders Treatment and Research Program, Clinical Labs, University of Massachusetts Medical School, Worcester, MA 01545, USA Department of Psychiatry, University of Massachusetts Medical School, Worcester, MA 01545, USA Clinical Neuroscience Branch, IRP, NIMH, Bethesda, MD 20892, USA
Mol Genet Metab 111:152-62. 2014..In this report we describe and characterize two novel long-lived transgenic mouse models of Gba deficiency, along with a subchronic conduritol-ß-epoxide (CBE) exposure paradigm...
- Endogenous β-glucocerebrosidase activity in Abca12⁻/⁻epidermis elevates ceramide levels after topical lipid application but does not restore barrier functionJorge F Haller
Lipid Metabolism Unit and Center for Computational and Integrative Biology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114
J Lipid Res 55:493-503. 2014..A defect was found in β-glucocerebrosidase (GCase) processing of newly synthesized GlcCer species. This was not due to a decline in GCase function...
- Cholesterol glucosylation is catalyzed by transglucosylation reaction of β-glucosidase 1Hisako Akiyama
Graduate School of Humanities and Sciences, Department of Life Science, Ochanomizu University, 2 1 1 Ohtsuka, Bunkyo ku, Tokyo 112 8610, Japan Brain Science Institute, RIKEN, 2 1 Hirosawa, Wako, Saitama 351 0198, Japan
Biochem Biophys Res Commun 441:838-43. 2013..In this study, we examined the possibility of glucocerebrosidase, a GlcCer-degrading glycosidase, acting as β-ChlGlc-synthesizing enzyme...
- Gaucher disease: chemotactic factors and immunological cell invasion in a mouse modelManoj Kumar Pandey
Division of Human Genetics, Cincinnati Children s Hospital Medical Center, USA Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA
Mol Genet Metab 111:163-71. 2014Gaucher disease results from mutations in GBA1 that cause functional disruption of the encoded lysosomal enzyme, acid β-glucosidase...
- Mice lacking mannose 6-phosphate uncovering enzyme activity have a milder phenotype than mice deficient for N-acetylglucosamine-1-phosphotransferase activityMarielle Boonen
Department of Internal Medicine, Washington University School of Medicine, St Louis, MO 63110, USA
Mol Biol Cell 20:4381-9. 2009....
- Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher diseaseYildiz Yildiz
Department of Internal Medicine I, University Clinic of Bonn, Bonn, Germany
Orphanet J Rare Dis 8:151. 2013..lysosomal storage disorder in humans, caused by mutations in the gene encoding the lysosomal enzyme glucocerebrosidase (GBA1)...
- Fused in sarcoma (FUS) protein lacking nuclear localization signal (NLS) and major RNA binding motifs triggers proteinopathy and severe motor phenotype in transgenic miceTatyana A Shelkovnikova
School of Biosciences, Cardiff University, Cardiff, Wales, United Kingdom
J Biol Chem 288:25266-74. 2013..Our data indicate that neuronal FUS aggregation is sufficient to cause ALS-like phenotype in transgenic mice. ..
- Multiple epigenetic mechanisms and the piRNA pathway enforce LINE1 silencing during adult spermatogenesisMonica Di Giacomo
Mouse Biology Unit, European Molecular Biology Laboratory, Via Ramarini 32, 00015 Monterotondo Scalo, Italy
Mol Cell 50:601-8. 2013..We demonstrate the existence of multiple epigenetic mechanisms that in conjunction with the piRNA pathway sequentially enforce L1 silencing and genomic stability during mitotic and meiotic stages of adult spermatogenesis...
- Augmenting CNS glucocerebrosidase activity as a therapeutic strategy for parkinsonism and other Gaucher-related synucleinopathiesS Pablo Sardi
Genzyme, a Sanofi Company, Framingham, MA 01701, USA
Proc Natl Acad Sci U S A 110:3537-42. 2013Mutations of GBA1, the gene encoding glucocerebrosidase, represent a common genetic risk factor for developing the synucleinopathies Parkinson disease (PD) and dementia with Lewy bodies...
- Gaucher disease gene GBA functions in immune regulationJun Liu
Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06520, USA
Proc Natl Acad Sci U S A 109:10018-23. 2012Inherited deficiency of acid β-glucosidase (GCase) due to biallelic mutations in the GBA (glucosidase, β, acid) gene causes the classic manifestations of Gaucher disease (GD) involving the viscera, the skeleton, and the lungs...
- Definition of mouse chromosome 1 and 3 gene linkage groups that are conserved on human chromosome 1: evidence that a conserved linkage group spans the centromere of human chromosome 1W S Moseley
Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710
Genomics 5:899-905. 1989..These studies provide a model for examination of specific evolutionary events...
- Mutant GBA1 expression and synucleinopathy risk: first insights from cellular and mouse modelsS Pablo Sardi
Genzyme, Sanofi Company, Framingham, Mass 01701, USA
Neurodegener Dis 10:195-202. 2012Heterozygous mutations in the glucocerebrosidase gene (GBA1) are associated with increased risk for α-synuclein aggregation disorders ('synucleinopathies'), which include Parkinson's disease (PD) and dementia with Lewy bodies (DLB)...
- Immunological cell type characterization and Th1-Th17 cytokine production in a mouse model of Gaucher diseaseManoj Kumar Pandey
Division of Human Genetics, Cincinnati Children s Hospital Medical Center, and Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229 3039, USA
Mol Genet Metab 106:310-22. 2012Gaucher disease is a lysosomal storage disease resulting from insufficient acid β-glucosidase (glucocerebrosidase, GCase, EC 220.127.116.11) activity and the resultant accumulation of glucosylceramide...
- Systemic delivery of a glucosylceramide synthase inhibitor reduces CNS substrates and increases lifespan in a mouse model of type 2 Gaucher diseaseMario A Cabrera-Salazar
Genzyme Corporation, Framingham, Massachusetts, United States of America
PLoS ONE 7:e43310. 2012..disease (nGD), also known as type 2 or type 3 Gaucher disease, is caused by a deficiency of the enzyme glucocerebrosidase (GC)...
- Substrate compositional variation with tissue/region and Gba1 mutations in mouse models--implications for Gaucher diseaseYing Sun
Division of Human Genetics, University of Cincinnati College of Medicine, Cincinnati, Ohio, United States of America
PLoS ONE 8:e57560. 2013Gaucher disease results from GBA1 mutations that lead to defective acid β-glucosidase (GCase) mediated cleavage of glucosylceramide (GC) and glucosylsphingosine as well as heterogeneous manifestations in the viscera and CNS...
- Gene mapping and leader polypeptide sequence of human glucocerebrosidase: implications for Gaucher diseaseE I Ginns
Proc Natl Acad Sci U S A 82:7101-5. 1985..Chinese hamster-human somatic cell hybrids allowed assignment of the structural gene for glucocerebrosidase (glucosylceramidase; beta-D-glucosyl-N-acylsphingosine glucohydrolase, EC 18.104.22.168) to chromosome 1 bands q21-q32...
- Characterization of B61, the ligand for the Eck receptor protein-tyrosine kinaseH Shao
Department of Pathology, University of Michigan Medical School, Ann Arbor 48109
J Biol Chem 270:5636-41. 1995..Finally, the gene for B61 was localized to a specific position on mouse chromosome 3 by interspecific back-cross analysis...
- Metaxin, a gene contiguous to both thrombospondin 3 and glucocerebrosidase, is required for embryonic development in the mouse: implications for Gaucher diseaseP Bornstein
Department of Biochemistry, University of Washington, Seattle 98195, USA
Proc Natl Acad Sci U S A 92:4547-51. 1995We have identified a murine gene, metaxin, that spans the 6-kb interval separating the glucocerebrosidase gene (GC) from the thrombospondin 3 gene on chromosome 3E3-F1...
- Molecular cloning, characterization, and genetic mapping of the cDNA coding for a novel secretory protein of mouse. Demonstration of alternative splicing in skin and cartilageJ Bhalerao
Department of Biochemistry, University of Antwerp, Belgium
J Biol Chem 270:16385-94. 1995..Alternative splicing may serve as a mechanism for generating functional diversity in the Ecm1 gene...
- Long-term expression of the glucocerebrosidase gene in mouse and human hematopoietic progenitorsM Nimgaonkar
Department of Medicine, University of Pittsburgh Medical Center, PA, USA
Leukemia 9:S38-42. 1995..Animal models have demonstrated the feasibility of introducing the human glucocerebrosidase (GC) gene into hematopoietic progenitors with long term expression using a variety of retroviral vectors...
- A lysosomal storage disorder in mice characterized by a dual deficiency of sphingomyelinase and glucocerebrosidaseP G Pentchev
Biochim Biophys Acta 619:669-79. 1980..Sphingomyelinase and glucocerebrosidase activities were consistently diminished in a wide variety of tissues obtained from the affected mice...
- Molecular and functional characterization of the murine glucocerebrosidase geneE D Carstea
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892
Biochem Biophys Res Commun 184:1477-83. 1992A genomic clone of glucocerebrosidase (D-glucosyl-N-acyl-sphingosine glucohydrolase; E.C. 3.2.1...
- Mapping of the mouse 86-kDa heat-shock protein expressed gene (Hsp86-1) on chromosome 12 and related genes on chromosomes 3, 4, 9, and 11S K Moore
Laboratory of Cell Biology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892
Genomics 10:1019-29. 1991..An HSP86-related locus specific to NFS/N and C58/J mice, designated Hsp86-ps3, was mapped on Chromosome 9. Also, an HSP86-related locus that was unique to NFS/N mice, designated Hsp86-ps4, was mapped to Chromosome 4...
- Chromosomal localization of Cd1d genes in the mouseA Bradbury
Instituto di Neurobiologia, Rome, Italy
Somat Cell Mol Genet 17:93-6. 1991..Analysis of the progeny of an intersubspecies backcross was used to position these genes near the gene for glucocerebrosidase, Gba.
- NSCL-2: a basic domain helix-loop-helix gene expressed in early neurogenesisV GOBEL
Navy Medical Oncology, National Cancer Institute, NIH, Bethesda, Maryland 20892
Cell Growth Differ 3:143-8. 1992....
- Organization and chromosomal locations of Rap1a/Krev sequences in the mouseN A Dower
Department of Paediatrics, University of Alberta, Edmonton, Canada
Mamm Genome 3:162-7. 1992..Rap1a-rs2 is more distantly related to the gene sequence and is located on Chr 2 near Actc-1...
- Structure and mapping of the gene encoding mouse high affinity Fc gamma RI and chromosomal location of the human Fc gamma RI geneN Osman
Austin Research Institute, Austin Hospital, Heidelberg, Australia
J Immunol 148:1570-5. 1992..These results suggest that the linkage relationships among these genes in the human genome are not preserved in the mouse...
- Chromosomal mapping of the high affinity Fc gamma receptor geneR J Oakey
Department of Medicine, Duke University Medical Center, Durham, NC 27710
Immunogenetics 35:279-82. 1992
- High throughput quantitative glycomics and glycoform-focused proteomics of murine dermis and epidermisRie Uematsu
Division of Biological Sciences, Graduate School of Science, Frontier Research Center for Post Genomic Science and Technology, Hokkaido University, Sapporo 001 0021, Japan
Mol Cell Proteomics 4:1977-89. 2005..g. cathepsin L and gamma-glutamyl hydrolase), lamellar granules (e.g. glucosylceramidase and cathepsin D), and desmosomes (e.g. desmocollin 1, desmocollin 3, and desmoglein)...
- Animal models for Gaucher disease researchTamar Farfel-Becker
Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
Dis Model Mech 4:746-52. 2011..most common lysosomal storage disorder (LSD), is caused by the defective activity of the lysosomal hydrolase glucocerebrosidase, which is encoded by the GBA gene...
- LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidaseDavid Reczek
Genzyme Corporation, 1 Mountain Road, Framingham, MA 01701, USA
Cell 131:770-83. 2007beta-glucocerebrosidase, the enzyme defective in Gaucher disease, is targeted to the lysosome independently of the mannose-6-phosphate receptor...
- A physical map of the genomic region on mouse chromosome 3 containing the hindshaker (hsh) mutationSaadia A Karim
Applied Neurobiology Group, Institute of Comparative Medicine, Veterinary School, United Kingdom
Genomics 83:225-30. 2004..Accordingly, our findings both map the area surrounding the hsh mutation and present important corrections to the current maps in an area rich in genes related to the nervous system...
- Role of peroxisome proliferator-activated receptor alpha in epidermal development in uteroMatthias Schmuth
Departments of Medicine Dermatology, University of California San Francisco, California 94121, USA
J Invest Dermatol 119:1298-303. 2002..5 of gestation and birth. Concurrently, there was diminished beta-glucocerebrosidase activity at the stratum granulosum-stratum corneum junction and a modest decrease in both involucrin and ..
- Temporal and spatial expression of murine acid beta-glucosidase mRNAE Ponce
Division of Human Genetics, Children s Hospital Medical Center, Cincinnati, Ohio, USA
Mol Genet Metab 74:426-34. 2001..glucosylceramide (GC) to ceramide and glucose requires the action of the lysosomal enzyme, acid beta-glucosidase (GCase), encoded by gba in the mouse...
- Comparative analysis of the human and mouse Hey1 promoter: Hey genes are new Notch target genesM M Maier
Physiologische Chemie I, Biozentrum der Universität Würzburg, Am Hubland, Wurzburg, 97074, Germany
Biochem Biophys Res Commun 275:652-60. 2000..Thus, our data clearly demonstrate that Hey genes form a new class of Notch signal transducers that should prove to be relevant in various developmental processes...
- A comparative gene map of the horse (Equus caballus)A R Caetano
Veterinary Genetics Laboratory, University of California Davis, Davis, California 95616 8744, USA
Genome Res 9:1239-49. 1999..The equine type I markers developed in this study provide an important resource for the future development of the horse linkage and physical genome maps...
- Mouse annexin V chromosomal localization, cDNA sequence conservation, and molecular evolutionM I Rodriguez-Garcia
Department of Biochemistry and Molecular Biology, University of Oviedo, Spain
Genomics 31:151-7. 1996..Comparison of nine species of ANX5 led to an estimation of the unit evolutionary mutation rate at 1% aa replacements every 8 million years, comparable to other annexins...
- cDNA cloning, sequencing and chromosomal assignment of the gene for mouse complement factor I (C3b/C4b inactivator): identification of a species specific divergent segment in factor IJ O Minta
Department of Cellular and Molecular Pathology, University of Toronto, Canada
Mol Immunol 33:101-12. 1996..The significance of the diversity of the D segment is at present unclear. We also report the chromosomal localization of the mouse factor I gene (Cfi) to distal chromosome 3 near Egf...
- A tightly organized, conserved gene cluster on mouse chromosome 3 (E3-F1)H L Vos
Department of Tumor Biology, Netherlands Cancer Institute, Amsterdam, The Netherlands
Mamm Genome 6:820-2. 1995
- The genes encoding gonadal and nongonadal forms of 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase are closely linked on mouse chromosome 3P A Bain
Graduate Program in Cellular and Molecular Biology, University of Michigan Medical School, Ann Arbor 48109
Genomics 16:219-23. 1993..The order of markers on Chr 3 surrounding Hsd3b is: centromere-Gba-(4.4 +/- 2.2)-Hsd3b-(3.3 +/- 1.9)-Tshb-(6.7 +/- 2.7)-Amy-1.
- Coexpression of gap junction proteins in the cumulus-oocyte complexG Valdimarsson
Department of Zoology, University of Western Ontario, London, Canada
Mol Reprod Dev 36:7-15. 1993..We could find no evidence of the incorporation of the oocyte's store of Cx32 into gap junctions during postfertilization development.(ABSTRACT TRUNCATED AT 250 WORDS)..
- Corticotropin-releasing hormone (Crh) maps to mouse chromosome 3L T Knapp
Department of Human Genetics, University of Michigan Medical School, Ann Arbor 48109 1618
Mamm Genome 4:615-7. 1993
- Permeability barrier requirements regulate epidermal beta-glucocerebrosidaseW M Holleran
Department of Dermatology, University of California School of Medicine, San Francisco
J Lipid Res 35:905-12. 1994..Hence, hydrolysis of GlcCer to Cer by beta-glucocerebrosidase (GlcCer'ase), may be required for permeability barrier homeostasis...
- Genetic mapping of the gene encoding guanylate cyclase-A/atrial natriuretic factor receptor (Npra) to mouse chromosome 3K N Pandey
Department of Biochemistry and Molecular Biology, Medical College of Georgia, School of Medicine, Augusta 30912 2100
Mamm Genome 5:520-2. 1994
- Localization of the osteocalcin gene cluster on mouse chromosome 3C Desbois
Department of Molecular Genetics, University of Texas, M D Anderson Cancer Center, Houston 77030
Mamm Genome 5:321-2. 1994
- Biosynthesis of acylceramide in murine epidermis: characterization by inhibition of glucosylation and deglucosylation, and by substrate specificityYutaka Takagi
Department of Dermatology, Jichi Medical University, Tochigi, Japan
J Invest Dermatol 122:722-9. 2004..When conduritol-B-epoxide, a specific inhibitor of beta-glucocerebrosidase, was added to the culture medium, the synthesis of acylceramide was significantly suppressed in concert with ..
- INBORN ERRORS OF SPHINGOLIPID CATABOLISMGregory Grabowski; Fiscal Year: 2004..abstract_text> ..
- Use of Hammerhead Ribozymes in Murine Models of OlGregory Grabowski; Fiscal Year: 2007....
- Studies of Prosaposin's Physiologic RoleGregory Grabowski; Fiscal Year: 2007..These studies have implications for GSL metabolism, and lysosomal storage disease phenotypic expression and therapy. ..