Gba

Summary

Gene Symbol: Gba
Description: glucosylceramidase beta
Alias: glucosylceramidase, glucocerebrosidase, glucosidase, beta, acid
Species: rat
Products:     Gba

Top Publications

  1. 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 ..
  2. Goker Alpan O, Stubblefield B, Giasson B, Sidransky E. Glucocerebrosidase is present in α-synuclein inclusions in Lewy body disorders. Acta Neuropathol. 2010;120:641-9 pubmed publisher
    Mutations in the gene encoding the lysosomal enzyme glucocerebrosidase, known to cause Gaucher disease (GD), are a risk factor for the development of Parkinson disease (PD) and related disorders...
  3. Lesage S, Anheim M, Condroyer C, Pollak P, Durif F, Dupuits C, et al. Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease. Hum Mol Genet. 2011;20:202-10 pubmed publisher
    Pathogenic variants in the glucocerebrosidase gene (GBA) encoding the enzyme deficient in Gaucher's disease (GD) are associated with Parkinson's disease (PD)...
  4. 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...
  5. Beilina A, Cookson M. Genes associated with Parkinson's disease: regulation of autophagy and beyond. J Neurochem. 2016;139 Suppl 1:91-107 pubmed publisher
    ..This article is part of a special issue on Parkinson disease. ..
  6. Lesage S, Condroyer C, Hecham N, Anheim M, Belarbi S, Lohman E, et al. Mutations in the glucocerebrosidase gene confer a risk for Parkinson disease in North Africa. Neurology. 2011;76:301-3 pubmed publisher
  7. Dermentzaki G, Dimitriou E, Xilouri M, Michelakakis H, Stefanis L. Loss of ?-glucocerebrosidase activity does not affect alpha-synuclein levels or lysosomal function in neuronal cells. PLoS ONE. 2013;8:e60674 pubmed publisher
    ..the most common lysosomal storage disorder, results from the diminished activity of the lysosomal enzyme ?-glucocerebrosidase (GCase), caused by mutations in the ?-glucocerebrosidase gene (GBA)...
  8. Rozenberg R, Fox D, Sobreira E, Pereira L. Detection of 12 new mutations in Gaucher disease Brazilian patients. Blood Cells Mol Dis. 2006;37:204-9 pubmed
    ..It is caused by mutations at the GBA gene leading to deficient activity of the glucocerebrosidase enzyme. This report describes 12 new mutations [c.38A>G (K-27R), c.220G>A (G35S), c...
  9. Basu A, Glew R. Characterization of the activation of rat liver beta-glucosidase by sialosylgangliotetraosylceramide. J Biol Chem. 1985;260:13067-73 pubmed

More Information

Publications34

  1. Liou B, Haffey W, Greis K, Grabowski G. The LIMP-2/SCARB2 binding motif on acid β-glucosidase: basic and applied implications for Gaucher disease and associated neurodegenerative diseases. J Biol Chem. 2014;289:30063-74 pubmed publisher
    ..These findings have therapeutic implications for the production of GCase and the distribution of this enzyme that is delivered to various organs. ..
  2. Ginns E, Mak S, Ko N, Karlgren J, Akbarian S, Chou V, et al. Neuroinflammation and ?-synuclein accumulation in response to glucocerebrosidase deficiency are accompanied by synaptic dysfunction. Mol Genet Metab. 2014;111:152-62 pubmed publisher
    ..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...
  3. Li Y, Sekine T, Funayama M, Li L, Yoshino H, Nishioka K, et al. Clinicogenetic study of GBA mutations in patients with familial Parkinson's disease. Neurobiol Aging. 2014;35:935.e3-8 pubmed publisher
    The glucocerebrosidase gene (GBA) is a known risk factor of Parkinson's disease (PD)...
  4. Nishioka K, Ross O, Vilariño Güell C, Cobb S, Kachergus J, Mann D, et al. Glucocerebrosidase mutations in diffuse Lewy body disease. Parkinsonism Relat Disord. 2011;17:55-7 pubmed publisher
    Clinicogenetic and pathological studies have shown that mutations of the glucocerebrosidase gene (GBA) are a risk factor for Parkinson's disease and Lewy body disorders. In the present study, we have identified GBA mutations in 6...
  5. Boonen M, Vogel P, Platt K, Dahms N, Kornfeld S. Mice lacking mannose 6-phosphate uncovering enzyme activity have a milder phenotype than mice deficient for N-acetylglucosamine-1-phosphotransferase activity. Mol Biol Cell. 2009;20:4381-9 pubmed publisher
  6. Kitatani K, Sheldon K, Anelli V, Jenkins R, Sun Y, Grabowski G, et al. Acid beta-glucosidase 1 counteracts p38delta-dependent induction of interleukin-6: possible role for ceramide as an anti-inflammatory lipid. J Biol Chem. 2009;284:12979-88 pubmed publisher
    ..Furthermore, the p38delta isoform was identified as a novel and predominant target of ceramide signaling as well as a regulator of IL-6 biosynthesis. ..
  7. Hu F, Xi J, Guo J, Yu L, Liu L, He X, et al. Association of the glucocerebrosidase N370S allele with Parkinson's disease in two separate Chinese Han populations of mainland China. Eur J Neurol. 2010;17:1476-8 pubmed publisher
    Mutations in the glucocerebrosidase (GBA) gene have been implicated in the development of Parkinson's disease (PD)...
  8. Kitatani K, Sheldon K, Rajagopalan V, Anelli V, Jenkins R, Sun Y, et al. Involvement of acid beta-glucosidase 1 in the salvage pathway of ceramide formation. J Biol Chem. 2009;284:12972-8 pubmed publisher
    ..Silencing GBA1 by small interfering RNAs significantly attenuated acid glucocerebrosidase activity and decreased PMA-induced formation of ceramide by 50%...
  9. Emre S, Gurakan F, Yuce A, Rolf A, SCOTT R, Ozen H. Molecular analysis of Turkish Gaucher disease patients: identification of novel mutations in glucocerebrosidase (GBA) gene. Eur J Med Genet. 2008;51:315-21 pubmed publisher
    ..In this work we carried out molecular analysis of the glucocerebrosidase gene (GBA) in 57 unrelated patients and the alleleic frequencies of gene mutations in Turkish patients are ..
  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. Schulze E, Böhme H, Hofmann E. Developmental changes of glycosidase activities in rat renal cortex. Biomed Biochim Acta. 1986;45:601-9 pubmed
    ..The results suggest that taurocholate should be included in the assay medium for the measurement of the beta-glucocerebrosidase activity in the diagnosis of Gaucher's disease...
  12. Rocha E, Smith G, Park E, Cao H, Brown E, Hayes M, et al. Glucocerebrosidase gene therapy prevents α-synucleinopathy of midbrain dopamine neurons. Neurobiol Dis. 2015;82:495-503 pubmed publisher
    ..GBA1 encodes for the lysosomal hydrolase glucocerebrosidase (GCase), and mutations in GBA1 are a prominent genetic risk factor for PD...
  13. Nishioka K, Vilariño Güell C, Cobb S, Kachergus J, Ross O, Wider C, et al. Glucocerebrosidase mutations are not a common risk factor for Parkinson disease in North Africa. Neurosci Lett. 2010;477:57-60 pubmed publisher
    Mutations in the glucocerebrosidase gene (GBA) have recently been associated with an increased risk of Parkinson disease (PD). GBA mutations have been observed to be particularly prevalent in the Ashkenazi Jewish population...
  14. Clark L, Chan R, Cheng R, Liu X, Park N, Parmalee N, et al. Gene-wise association of variants in four lysosomal storage disorder genes in neuropathologically confirmed Lewy body disease. PLoS ONE. 2015;10:e0125204 pubmed publisher
    Variants in GBA are associated with Lewy Body (LB) pathology. We investigated whether variants in other lysosomal storage disorder (LSD) genes also contribute to disease pathogenesis...
  15. Woodard C, Campos B, Kuo S, Nirenberg M, Nestor M, Zimmer M, et al. iPSC-derived dopamine neurons reveal differences between monozygotic twins discordant for Parkinson's disease. Cell Rep. 2014;9:1173-82 pubmed publisher
    ..We studied a set of monozygotic twins harboring the heterozygous glucocerebrosidase mutation (GBA N370S) but clinically discordant for PD...
  16. Alessandrini F, Pfister S, Kremmer E, Gerber J, Ring J, Behrendt H. Alterations of glucosylceramide-beta-glucosidase levels in the skin of patients with psoriasis vulgaris. J Invest Dermatol. 2004;123:1030-6 pubmed
  17. Mistry P, Weinreb N, Kaplan P, Cole J, Gwosdow A, HANGARTNER T. Osteopenia in Gaucher disease develops early in life: response to imiglucerase enzyme therapy in children, adolescents and adults. Blood Cells Mol Dis. 2011;46:66-72 pubmed publisher
    In Gaucher disease (GD), acid-?-glucosidase (GBA1) gene mutations result in defective glucocerebrosidase and variable combinations of hematological, visceral, and diverse bone disease...
  18. 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)...
  19. 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...
  20. Fluhr J, Mao Qiang M, Brown B, Hachem J, Moskowitz D, Demerjian M, et al. Functional consequences of a neutral pH in neonatal rat stratum corneum. J Invest Dermatol. 2004;123:140-51 pubmed
    ..The delay in BR correlated with incompletely processed lamellar membranes and decreased activity of beta-glucocerebrosidase. Inhibition of NHE1 delayed BR after acute barrier perturbation...
  21. Hunn B, Cragg S, Bolam J, Spillantini M, Wade Martins R. Impaired intracellular trafficking defines early Parkinson's disease. Trends Neurosci. 2015;38:178-88 pubmed publisher
    ..Dysfunction of the dopaminergic synapse heralds trafficking impairment. ..
  22. 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
    ..Moreover, IFG is orally available and distributes into multiple tissues, including brain, and may thus merit therapeutic evaluation for patients with neuronopathic and non-neuronopathic Gaucher disease. ..
  23. Hanley K, Jiang Y, Holleran W, Elias P, Williams M, Feingold K. Glucosylceramide metabolism is regulated during normal and hormonally stimulated epidermal barrier development in the rat. J Lipid Res. 1997;38:576-84 pubmed
    ..and its conversion to ceramide, UDP-glucose:ceramide glucosyltransferase (GC synthase) and beta-glucocerebrosidase (beta-GlcCer'ase), respectively, during fetal barrier formation...
  24. Fabbro D, Desnick R, Gatt S. Lysosomal beta-glucosidase of rat liver. Enzyme. 1984;31:122-7 pubmed
    ..indicated that the liver of Sprague-Dawley rats contained primarily the lysosomal acid beta-glucosidase ('glucocerebrosidase') and little, if any, 'nonspecific' beta-glucosidase...
  25. Hachem J, Wagberg F, Schmuth M, Crumrine D, Lissens W, Jayakumar A, et al. Serine protease activity and residual LEKTI expression determine phenotype in Netherton syndrome. J Invest Dermatol. 2006;126:1609-21 pubmed
    ..barrier abnormality in NS was further linked to SC thinning and proteolysis of two lipid hydrolases (beta-glucocerebrosidase and acidic sphingomyelinase), with resultant disorganization of extracellular lamellar membranes...