Gene Symbol: Gba
Description: glucosidase, beta, acid
Alias: GBA1, GCase, GLUC, betaGC, glucosylceramidase, D-glucosyl-N-acylsphingosine glucohydrolase, acid beta glucosidase, beta-glucocerebrosidase, glucocerebrosidase
Species: mouse
Products:     Gba

Top Publications

  1. Xu Y, Reboulet R, Quinn B, Huelsken J, Witte D, Grabowski G. Dependence of reversibility and progression of mouse neuronopathic Gaucher disease on acid beta-glucosidase residual activity levels. Mol Genet Metab. 2008;94:190-203 pubmed publisher
    ..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)...
  2. Sun Y, Liou B, Xu Y, Quinn B, Zhang W, Hamler R, et al. Ex vivo and in vivo effects of isofagomine on acid ?-glucosidase variants and substrate levels in Gaucher disease. J Biol Chem. 2012;287:4275-87 pubmed publisher
    Isofagomine (IFG) is an acid ?-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...
  3. Sinclair G, Jevon G, Colobong K, Randall D, Choy F, Clarke L. Generation of a conditional knockout of murine glucocerebrosidase: utility for the study of Gaucher disease. Mol Genet Metab. 2007;90:148-56 pubmed 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, ..
  4. Tybulewicz V, Tremblay M, Lamarca M, Willemsen R, Stubblefield B, Winfield S, et al. Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene. Nature. 1992;357:407-10 pubmed
    ..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 ..
  5. Sardi S, Clarke J, Viel C, Chan M, Tamsett T, Treleaven C, et al. Augmenting CNS glucocerebrosidase activity as a therapeutic strategy for parkinsonism and other Gaucher-related synucleinopathies. Proc Natl Acad Sci U S A. 2013;110:3537-42 pubmed publisher
    Mutations of GBA1, the gene encoding glucocerebrosidase, represent a common genetic risk factor for developing the synucleinopathies Parkinson disease (PD) and dementia with Lewy bodies...
  6. Sardi S, Clarke J, Kinnecom C, Tamsett T, Li L, Stanek L, et al. CNS expression of glucocerebrosidase corrects alpha-synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy. Proc Natl Acad Sci U S A. 2011;108:12101-6 pubmed publisher
    ..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...
  7. Mazzulli J, Xu Y, Sun Y, Knight A, McLean P, Caldwell G, et al. Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies. Cell. 2011;146:37-52 pubmed publisher
    ..Here, we show that functional loss of GD-linked glucocerebrosidase (GCase) in primary cultures or human iPS neurons compromises lysosomal protein degradation, causes ..
  8. Sun Y, Liou B, Ran H, Skelton M, Williams M, Vorhees C, et al. 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. Hum Mol Genet. 2010;19:1088-97 pubmed publisher
    Gaucher disease is caused by defective acid beta-glucosidase (GCase) function. Saposin C is a lysosomal protein needed for optimal GCase activity...
  9. Sun Y, Ran H, Zamzow M, Kitatani K, Skelton M, Williams M, et al. Specific saposin C deficiency: CNS impairment and acid beta-glucosidase effects in the mouse. Hum Mol Genet. 2010;19:634-47 pubmed publisher
    ..system (CNS) phenotype attributed to diminished glucosylceramide (GC) cleavage activity by acid beta-glucosidase (GCase)...

More Information


  1. Sun Y, Quinn B, Xu Y, Leonova T, Witte D, Grabowski G. Conditional expression of human acid beta-glucosidase improves the visceral phenotype in a Gaucher disease mouse model. J Lipid Res. 2006;47:2161-70 pubmed
    ..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 ..
  2. Xu Y, Quinn B, Witte D, Grabowski G. Viable mouse models of acid beta-glucosidase deficiency: the defect in Gaucher disease. Am J Pathol. 2003;163:2093-101 pubmed
    Gaucher disease is an autosomal recessively inherited disease caused by mutations at the acid beta-glucosidase (GCase) locus (GBA)...
  3. Mizukami H, Mi Y, Wada R, Kono M, Yamashita T, Liu Y, et al. Systemic inflammation in glucocerebrosidase-deficient mice with minimal glucosylceramide storage. J Clin Invest. 2002;109:1215-21 pubmed
    Gaucher disease, the most common lysosomal storage disease, is caused by a deficiency of glucocerebrosidase resulting in the impairment of glucosylceramide degradation...
  4. Sun Y, Quinn B, Witte D, Grabowski G. Gaucher disease mouse models: point mutations at the acid beta-glucosidase locus combined with low-level prosaposin expression lead to disease variants. J Lipid Res. 2005;46:2102-13 pubmed
    Gaucher disease is a common lysosomal storage disease caused by a defect of acid beta-glucosidase (GCase)...
  5. Harzer K, Blech Hermoni Y, Goldin E, Felderhoff Mueser U, Igney C, Sidransky E, et al. 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 humans. Biochem Biophys Res Commun. 2012;423:308-12 pubmed publisher
    Beta-glucosidase 1 (GBA1; lysosomal glucocerebrosidase) and β-glucosidase 2 (GBA2, non-lysosomal glucocerebrosidase) both have glucosylceramide as a main natural substrate...
  6. Holleran W, Ginns E, Menon G, Grundmann J, Fartasch M, McKinney C, et al. Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease. J Clin Invest. 1994;93:1756-64 pubmed
    Hydrolysis of glucosylceramide by beta-glucocerebrosidase results in ceramide, a critical component of the intercellular lamellae that mediate the epidermal permeability barrier...
  7. Enquist I, Nilsson E, Ooka A, Mansson J, Olsson K, Ehinger M, et al. Effective cell and gene therapy in a murine model of Gaucher disease. Proc Natl Acad Sci U S A. 2006;103:13819-24 pubmed
    Gaucher 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...
  8. Doering T, Proia R, Sandhoff K. Accumulation of protein-bound epidermal glucosylceramides in beta-glucocerebrosidase deficient type 2 Gaucher mice. FEBS Lett. 1999;447:167-70 pubmed
    ..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 ..
  9. McEachern K, Fung J, Komarnitsky S, Siegel C, Chuang W, Hutto E, et al. A specific and potent inhibitor of glucosylceramide synthase for substrate inhibition therapy of Gaucher disease. Mol Genet Metab. 2007;91:259-67 pubmed
    ..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. ..
  10. Farfel Becker T, Vitner E, Pressey S, Eilam R, Cooper J, Futerman A. Spatial and temporal correlation between neuron loss and neuroinflammation in a mouse model of neuronopathic Gaucher disease. Hum Mol Genet. 2011;20:1375-86 pubmed publisher
    ..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)...
  11. Vitner E, Salomon R, Farfel Becker T, Meshcheriakova A, Ali M, Klein A, et al. RIPK3 as a potential therapeutic target for Gaucher's disease. Nat Med. 2014;20:204-8 pubmed publisher
    Gaucher'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...
  12. Enquist I, Lo Bianco C, Ooka A, Nilsson E, Mansson J, Ehinger M, et al. Murine models of acute neuronopathic Gaucher disease. Proc Natl Acad Sci U S A. 2007;104:17483-8 pubmed
    ..disorder caused by mutations in the glucosidase, beta, acid (GBA) gene that encodes the lysosomal enzyme glucosylceramidase (GCase)...
  13. Vitner E, Dekel H, Zigdon H, Shachar T, Farfel Becker T, Eilam R, et al. Altered expression and distribution of cathepsins in neuronopathic forms of Gaucher disease and in other sphingolipidoses. Hum Mol Genet. 2010;19:3583-90 pubmed publisher
    ..Recently, a mouse model of neuronopathic GD was generated in which glucocerebrosidase deficiency is limited to neural and glial progenitor cells...
  14. Cabrera Salazar M, Bercury S, Ziegler R, Marshall J, Hodges B, Chuang W, et al. Intracerebroventricular delivery of glucocerebrosidase reduces substrates and increases lifespan in a mouse model of neuronopathic Gaucher disease. Exp Neurol. 2010;225:436-44 pubmed publisher
    Gaucher 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 ..
  15. O Neill R, Tokoro T, Kozak C, Brady R. Comparison of the chromosomal localization of murine and human glucocerebrosidase genes and of the deduced amino acid sequences. Proc Natl Acad Sci U S A. 1989;86:5049-53 pubmed
    ..evolution, we determined the nucleotide sequence and chromosomal location of the gene encoding murine glucocerebrosidase (glucosylceramidase; D-glucosyl-N-acylsphingosine glucohydrolase, EC
  16. Khanna R, Benjamin E, Pellegrino L, Schilling A, Rigat B, Soska R, et al. The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase. FEBS J. 2010;277:1618-38 pubmed publisher
    Gaucher disease is caused by mutations in the gene that encodes the lysosomal enzyme acid beta-glucosidase (GCase)...
  17. Kim E, Hong Y, Go S, Lee B, Jung S. Downregulation of neurotrophic factors in the brain of a mouse model of Gaucher disease; implications for neuronal loss in Gaucher disease. Exp Mol Med. 2006;38:348-56 pubmed
    Gaucher disease is a glycosphingolipid storage disease caused by deficiency of glucocerebrosidase, resulting in the accumulation of glucosylceramide in lysosomes...
  18. Mistry P, Liu J, Yang M, Nottoli T, McGrath J, Jain D, et al. Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage. Proc Natl Acad Sci U S A. 2010;107:19473-8 pubmed publisher
    In 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 ..
  19. Xu Y, Jia L, Quinn B, Zamzow M, Stringer K, Aronow B, et al. Global gene expression profile progression in Gaucher disease mouse models. BMC Genomics. 2011;12:20 pubmed publisher
    Gaucher disease is caused by defective glucocerebrosidase activity and the consequent accumulation of glucosylceramide...
  20. Xu Y, Sun Y, Ran H, Quinn B, Witte D, Grabowski G. Accumulation and distribution of ?-synuclein and ubiquitin in the CNS of Gaucher disease mouse models. Mol Genet Metab. 2011;102:436-47 pubmed publisher
    Gaucher disease, a prevalent lysosomal storage disease, is caused by insufficient activity of acid ?-glucosidase (GCase) and resultant glucosylceramide accumulation...
  21. Willemsen R, Tybulewicz V, Sidransky E, Eliason W, Martin B, Lamarca M, et al. A biochemical and ultrastructural evaluation of the type 2 Gaucher mouse. Mol Chem Neuropathol. 1995;24:179-92 pubmed
    Gaucher 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...
  22. Xu Y, Xu K, Sun Y, Liou B, Quinn B, Li R, et al. Multiple pathogenic proteins implicated in neuronopathic Gaucher disease mice. Hum Mol Genet. 2014;23:3943-57 pubmed publisher
    ..disease, a prevalent lysosomal storage disease (LSD), is caused by insufficient activity of acid ?-glucosidase (GCase) and the resultant glucosylceramide (GC)/glucosylsphingosine (GS) accumulation in visceral organs (Type 1) and the ..
  23. Liu Y, Suzuki K, Reed J, Grinberg A, Westphal H, Hoffmann A, et al. Mice with type 2 and 3 Gaucher disease point mutations generated by a single insertion mutagenesis procedure. Proc Natl Acad Sci U S A. 1998;95:2503-8 pubmed
    Gaucher disease is caused by mutations in the gene encoding the lysosomal enzyme glucocerebrosidase (GC)...
  24. Osellame L, Rahim A, Hargreaves I, Gegg M, Richard Londt A, Brandner S, et al. Mitochondria and quality control defects in a mouse model of Gaucher disease--links to Parkinson's disease. Cell Metab. 2013;17:941-53 pubmed publisher
    Mutations in the glucocerebrosidase (gba) gene cause Gaucher disease (GD), the most common lysosomal storage disorder, and increase susceptibility to Parkinson's disease (PD)...
  25. Sun Y, Qi X, Grabowski G. Saposin C is required for normal resistance of acid beta-glucosidase to proteolytic degradation. J Biol Chem. 2003;278:31918-23 pubmed
    ..In the lysosomal sphingolipid degradation pathway, acid beta-glucosidase (GCase) requires saposin C for optimal in vitro and in vivo hydrolysis of glucocerebroside...
  26. Orvisky E, Sidransky E, McKinney C, Lamarca M, Samimi R, Krasnewich D, et al. Glucosylsphingosine accumulation in mice and patients with type 2 Gaucher disease begins early in gestation. Pediatr Res. 2000;48:233-7 pubmed
    Gaucher disease, the most common of the sphingolipidoses, results from the inherited deficiency of the enzyme glucocerebrosidase (EC
  27. Ponce E, Witte D, Hung A, Grabowski G. Temporal and spatial expression of murine acid beta-glucosidase mRNA. Mol Genet Metab. 2001;74:426-34 pubmed
    ..glucosylceramide (GC) to ceramide and glucose requires the action of the lysosomal enzyme, acid beta-glucosidase (GCase), encoded by gba in the mouse...
  28. Fishbein I, Kuo Y, Giasson B, Nussbaum R. Augmentation of phenotype in a transgenic Parkinson mouse heterozygous for a Gaucher mutation. Brain. 2014;137:3235-47 pubmed publisher
    ..As mutations in the GBA gene encoding glucocerebrosidase (GBA) are known to interfere with lysosomal protein degradation, GBA heterozygotes may demonstrate reduced ..
  29. Wu J, Liu J, Chen E, Wang J, Cao L, Narayan N, et al. Increased mammalian lifespan and a segmental and tissue-specific slowing of aging after genetic reduction of mTOR expression. Cell Rep. 2013;4:913-20 pubmed publisher
    ..Thus, in a mammalian model, while reducing mTOR expression markedly increases overall lifespan, it affects the age-dependent decline in tissue and organ function in a segmental fashion. ..
  30. Maier M, Gessler M. Comparative analysis of the human and mouse Hey1 promoter: Hey genes are new Notch target genes. Biochem Biophys Res Commun. 2000;275:652-60 pubmed
    ..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. ..
  31. Di Giacomo M, Comazzetto S, Saini H, De Fazio S, Carrieri C, Morgan M, et al. Multiple epigenetic mechanisms and the piRNA pathway enforce LINE1 silencing during adult spermatogenesis. Mol Cell. 2013;50:601-8 pubmed publisher
    ..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. ..
  32. Mistry P, Liu J, Sun L, Chuang W, Yuen T, Yang R, et al. Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease. Proc Natl Acad Sci U S A. 2014;111:4934-9 pubmed publisher
    The 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)...
  33. Zigdon H, Savidor A, Levin Y, Meshcheriakova A, Schiffmann R, Futerman A. Identification of a biomarker in cerebrospinal fluid for neuronopathic forms of Gaucher disease. PLoS ONE. 2015;10:e0120194 pubmed publisher
    Gaucher disease, a recessive inherited metabolic disorder caused by defects in the gene encoding glucosylceramidase (GlcCerase), can be divided into three subtypes according to the appearance of symptoms associated with central nervous ..
  34. Takagi Y, Nakagawa H, Matsuo N, Nomura T, Takizawa M, Imokawa G. Biosynthesis of acylceramide in murine epidermis: characterization by inhibition of glucosylation and deglucosylation, and by substrate specificity. J Invest Dermatol. 2004;122:722-9 pubmed
    ..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 ..
  35. Farfel Becker T, Vitner E, Futerman A. Animal models for Gaucher disease research. Dis Model Mech. 2011;4:746-52 pubmed publisher
    ..most common lysosomal storage disorder (LSD), is caused by the defective activity of the lysosomal hydrolase glucocerebrosidase, which is encoded by the GBA gene...
  36. Magalhães J, Gegg M, Migdalska Richards A, Doherty M, Whitfield P, Schapira A. Autophagic lysosome reformation dysfunction in glucocerebrosidase deficient cells: relevance to Parkinson disease. Hum Mol Genet. 2016;25:3432-3445 pubmed publisher
    b>Glucocerebrosidase (GBA1) gene mutations increase the risk of Parkinson disease (PD)...
  37. Rothaug M, Zunke F, Mazzulli J, Schweizer M, Altmeppen H, Lüllmann Rauch R, et al. LIMP-2 expression is critical for β-glucocerebrosidase activity and α-synuclein clearance. Proc Natl Acad Sci U S A. 2014;111:15573-8 pubmed publisher
    Mutations within the lysosomal enzyme β-glucocerebrosidase (GC) result in Gaucher disease and represent a major risk factor for developing Parkinson disease (PD)...
  38. Vos H, Mockensturm Wilson M, Rood P, Maas A, Duhig T, Gendler S, et al. A tightly organized, conserved gene cluster on mouse chromosome 3 (E3-F1). Mamm Genome. 1995;6:820-2 pubmed
  39. Moseley W, Seldin M. 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 1. Genomics. 1989;5:899-905 pubmed
    ..These studies provide a model for examination of specific evolutionary events. ..
  40. Pentchev P, Gal A, Booth A, Omodeo Salè F, Fouks J, Neumeyer B, et al. A lysosomal storage disorder in mice characterized by a dual deficiency of sphingomyelinase and glucocerebrosidase. Biochim Biophys Acta. 1980;619:669-79 pubmed
    ..Sphingomyelinase and glucocerebrosidase activities were consistently diminished in a wide variety of tissues obtained from the affected mice...
  41. Yildiz Y, Hoffmann P, Vom Dahl S, Breiden B, Sandhoff R, Niederau C, et al. Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease. Orphanet J Rare Dis. 2013;8:151 pubmed publisher
    ..lysosomal storage disorder in humans, caused by mutations in the gene encoding the lysosomal enzyme glucocerebrosidase (GBA1)...
  42. Kingsmore S, Giros B, Suh D, Bieniarz M, Caron M, Seldin M. Glycine receptor beta-subunit gene mutation in spastic mouse associated with LINE-1 element insertion. Nat Genet. 1994;7:136-41 pubmed
    ..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. ..
  43. Pandey M, Burrow T, Rani R, Martin L, Witte D, SETCHELL K, et al. Complement drives glucosylceramide accumulation and tissue inflammation in Gaucher disease. Nature. 2017;543:108-112 pubmed publisher
    Gaucher disease is caused by mutations in GBA1, which encodes the lysosomal enzyme glucocerebrosidase (GCase)...
  44. Holleran W, Takagi Y, Menon G, Jackson S, Lee J, Feingold K, et al. Permeability barrier requirements regulate epidermal beta-glucocerebrosidase. J Lipid Res. 1994;35:905-12 pubmed
    ..Hence, hydrolysis of GlcCer to Cer by beta-glucocerebrosidase (GlcCer'ase), may be required for permeability barrier homeostasis...
  45. Bradbury A, Milstein C, Kozak C. Chromosomal localization of Cd1d genes in the mouse. Somat Cell Mol Genet. 1991;17:93-6 pubmed
    ..Analysis of the progeny of an intersubspecies backcross was used to position these genes near the gene for glucocerebrosidase, Gba.
  46. Migdalska Richards A, Wegrzynowicz M, Rusconi R, Deangeli G, Di Monte D, Spillantini M, et al. The L444P Gba1 mutation enhances alpha-synuclein induced loss of nigral dopaminergic neurons in mice. Brain. 2017;140:2706-2721 pubmed publisher
    Mutations in glucocerebrosidase 1 (GBA1) represent the most prevalent risk factor for Parkinson's disease. The molecular mechanisms underlying the link between GBA1 mutations and Parkinson's disease are incompletely understood...
  47. Oakey R, Howard T, Hogarth P, Tani K, Seldin M. Chromosomal mapping of the high affinity Fc gamma receptor gene. Immunogenetics. 1992;35:279-82 pubmed
  48. Sun Y, Zhang W, Xu Y, Quinn B, Dasgupta N, Liou B, et al. Substrate compositional variation with tissue/region and Gba1 mutations in mouse models--implications for Gaucher disease. PLoS ONE. 2013;8:e57560 pubmed publisher
    Gaucher disease results from GBA1 mutations that lead to defective acid ?-glucosidase (GCase) mediated cleavage of glucosylceramide (GC) and glucosylsphingosine as well as heterogeneous manifestations in the viscera and CNS...
  49. Liou B, Peng Y, Li R, Inskeep V, Zhang W, Quinn B, et al. Modulating ryanodine receptors with dantrolene attenuates neuronopathic phenotype in Gaucher disease mice. Hum Mol Genet. 2016;25:5126-5141 pubmed publisher
    ..A nGD cell model (CBE-N2a) was created by inhibiting acid ?-glucosidase (GCase) in N2a cells with conduritol B epoxide (CBE)...
  50. Minta J, Wong M, Kozak C, Kunnath Muglia L, Goldberger G. 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 I. Mol Immunol. 1996;33:101-12 pubmed
    ..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. ..
  51. Moore S, Appella E, Villar C, Kozak C. 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 11. Genomics. 1991;10:1019-29 pubmed
    ..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. ..
  52. Ginns E, Choudary P, Tsuji S, Martin B, Stubblefield B, Sawyer J, et al. Gene mapping and leader polypeptide sequence of human glucocerebrosidase: implications for Gaucher disease. Proc Natl Acad Sci U S A. 1985;82:7101-5 pubmed
    ..material in Chinese hamster-human somatic cell hybrids allowed assignment of the structural gene for glucocerebrosidase (glucosylceramidase; beta-D-glucosyl-N-acylsphingosine glucohydrolase, EC 3.2.1...
  53. Reczek D, Schwake M, Schröder J, Hughes H, Blanz J, Jin X, et al. LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase. Cell. 2007;131:770-83 pubmed
    beta-glucocerebrosidase, the enzyme defective in Gaucher disease, is targeted to the lysosome independently of the mannose-6-phosphate receptor...
  54. Kumar A, Dai X, Kozak C, Mims M, Gotto A, Ballantyne C. Murine VCAM-1. Molecular cloning, mapping, and analysis of a truncated form. J Immunol. 1994;153:4088-98 pubmed
    ..Thus, expression of VCAM-1 is restricted and controlled at the level of transcription and by alternative splicing. ..
  55. Pandey M, Jabre N, Xu Y, Zhang W, Setchell K, Grabowski G. Gaucher disease: chemotactic factors and immunological cell invasion in a mouse model. Mol Genet Metab. 2014;111:163-71 pubmed publisher
    Gaucher disease results from mutations in GBA1 that cause functional disruption of the encoded lysosomal enzyme, acid ?-glucosidase...
  56. Dower N, Seldin M, Pugh S, Stone J. Organization and chromosomal locations of Rap1a/Krev sequences in the mouse. Mamm Genome. 1992;3:162-7 pubmed
    ..Rap1a-rs2 is more distantly related to the gene sequence and is located on Chr 2 near Actc-1. ..
  57. Nimgaonkar M, Bahnson A, Kemp A, Lancia J, Mannion Henderson J, Boggs S, et al. Long-term expression of the glucocerebrosidase gene in mouse and human hematopoietic progenitors. Leukemia. 1995;9 Suppl 1:S38-42 pubmed
    ..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...
  58. Pandey M, Rani R, Zhang W, Setchell K, Grabowski G. Immunological cell type characterization and Th1-Th17 cytokine production in a mouse model of Gaucher disease. Mol Genet Metab. 2012;106:310-22 pubmed publisher
    Gaucher disease is a lysosomal storage disease resulting from insufficient acid ?-glucosidase (glucocerebrosidase, GCase, EC activity and the resultant accumulation of glucosylceramide...
  59. Uematsu R, Furukawa J, Nakagawa H, Shinohara Y, Deguchi K, Monde K, et al. High throughput quantitative glycomics and glycoform-focused proteomics of murine dermis and epidermis. Mol Cell Proteomics. 2005;4:1977-89 pubmed
    ..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)...
  60. Valdimarsson G, De Sousa P, Kidder G. Coexpression of gap junction proteins in the cumulus-oocyte complex. Mol Reprod Dev. 1993;36:7-15 pubmed
    ..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) ..
  61. Baptista M, Dave K, Sheth N, De Silva S, Carlson K, Aziz Y, et al. A strategy for the generation, characterization and distribution of animal models by The Michael J. Fox Foundation for Parkinson's Research. Dis Model Mech. 2013;6:1316-24 pubmed publisher
    ..Park1 (also known as Park4 and SNCA), Park8 (LRRK2), Park7 (DJ-1), Park6 (PINK1), Park2 (Parkin), VPS35, EiF4G1 and GBA. The phenotypic characterization of these animals is performed in a uniform and streamlined manner at independent ..
  62. Dasgupta N, Xu Y, Li R, Peng Y, Pandey M, Tinch S, et al. Neuronopathic Gaucher disease: dysregulated mRNAs and miRNAs in brain pathogenesis and effects of pharmacologic chaperone treatment in a mouse model. Hum Mol Genet. 2015;24:7031-48 pubmed publisher
    Defective lysosomal acid β-glucosidase (GCase) in Gaucher disease causes accumulation of glucosylceramide (GC) and glucosylsphingosine (GS) that distress cellular functions...
  63. Haller J, Cavallaro P, Hernandez N, Dolat L, Soscia S, Welti R, et al. Endogenous ?-glucocerebrosidase activity in Abca12?/?epidermis elevates ceramide levels after topical lipid application but does not restore barrier function. J Lipid Res. 2014;55:493-503 pubmed publisher
    ..A defect was found in ?-glucocerebrosidase (GCase) processing of newly synthesized GlcCer species. This was not due to a decline in GCase function...
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