GBA

Summary

Gene Symbol: GBA
Description: glucosylceramidase beta
Alias: GBA1, GCB, GLUC, glucosylceramidase, D-glucosyl-N-acylsphingosine glucohydrolase, acid beta-glucosidase, alglucerase, beta-GC, beta-glucocerebrosidase, glucosidase, beta, acid, glucosylceramidase-like protein, imiglucerase, lysosomal glucocerebrosidase
Species: human
Products:     GBA

Top Publications

  1. Toft M, Pielsticker L, Ross O, Aasly J, Farrer M. Glucocerebrosidase gene mutations and Parkinson disease in the Norwegian population. Neurology. 2006;66:415-7 pubmed
    An association between mutations in the glucocerebrosidase (GBA) gene and Parkinson disease (PD) was recently reported in Ashkenazi Jews...
  2. Setó Salvia N, Pagonabarraga J, Houlden H, Pascual Sedano B, Dols Icardo O, Tucci A, et al. Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course. Mov Disord. 2012;27:393-9 pubmed publisher
  3. Liu J, Zhang H. Significant study of population stratification, sensitivity analysis and trim and fill analyses on GBA mutation and Parkinson's disease. Am J Med Genet B Neuropsychiatr Genet. 2014;165B:96-102 pubmed publisher
    This comprehensive meta-analysis was applied to case-control studies of the association between PD and GBA to assess the joint evidence for the association, the influence of individual studies, and evidence for publication bias...
  4. Mao X, Burgunder J, Zhang Z, An X, Zhang J, Yang Y, et al. Association between GBA L444P mutation and sporadic Parkinson's disease from Mainland China. Neurosci Lett. 2010;469:256-9 pubmed publisher
    Mutations in GBA gene have been reported to be in patients with Parkinson's disease (PD) from different ethnic populations, including Taiwanese Chinese...
  5. Gan Or Z, Giladi N, Rozovski U, Shifrin C, Rosner S, Gurevich T, et al. Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset. Neurology. 2008;70:2277-83 pubmed publisher
    Mutations in GBA and LRRK2 genes have been implicated in Parkinson disease (PD), particularly in Ashkenazi Jews...
  6. Choi J, Stubblefield B, Cookson M, Goldin E, Velayati A, Tayebi N, et al. Aggregation of α-synuclein in brain samples from subjects with glucocerebrosidase mutations. Mol Genet Metab. 2011;104:185-8 pubmed publisher
    Recent studies show an increased frequency of mutations in the glucocerebrosidase gene (GBA1) in patients with α-synucleinopathies including Parkinson disease...
  7. Goker Alpan O, Lopez G, Vithayathil J, Davis J, Hallett M, Sidransky E. The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations. Arch Neurol. 2008;65:1353-7 pubmed publisher
    Mutations in the glucocerebrosidase gene (GBA) result in Gaucher disease and can be associated with a phenotype characterized by adult-onset progressive neurologic deterioration and parkinsonism...
  8. 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
    ..Therefore, improved targeting of GCase to lysosomes may represent a specific therapeutic approach for PD and other synucleinopathies. ..
  9. 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)...

More Information

Publications67

  1. Demina A, Beutler E. Six new Gaucher disease mutations. Acta Haematol. 1998;99:80-2 pubmed
    ..Four patients had type I Gaucher disease with mild clinical phenotypes. Two other patients manifested central nervous system involvement (type II and type III). ..
  2. Gegg M, Burke D, Heales S, Cooper J, Hardy J, Wood N, et al. Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains. Ann Neurol. 2012;72:455-63 pubmed publisher
    Mutations in the glucocerebrosidase gene (GBA) represent a significant risk factor for developing Parkinson disease (PD)...
  3. Brockmann K, Srulijes K, Hauser A, Schulte C, Csoti I, Gasser T, et al. GBA-associated PD presents with nonmotor characteristics. Neurology. 2011;77:276-80 pubmed publisher
    To evaluate whether there exists distinct characteristics in glucocerebrosidase (GBA)-associated Parkinson disease (PD) with regard to motor and nonmotor symptoms as well as imaging characteristics assessed by transcranial sonography (..
  4. Kurzawa Akanbi M, Hanson P, Blain P, Lett D, McKeith I, Chinnery P, et al. Glucocerebrosidase mutations alter the endoplasmic reticulum and lysosomes in Lewy body disease. J Neurochem. 2012;123:298-309 pubmed publisher
    Lewy body disease (LBD) development is enhanced by mutations in the GBA gene coding for glucocerebrosidase (GCase)...
  5. Mata I, Samii A, Schneer S, Roberts J, Griffith A, Leis B, et al. Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders. Arch Neurol. 2008;65:379-82 pubmed publisher
    Mutations in the glucocerebrosidase (GBA) gene have been reported to modify risk for Parkinson disease (PD) and dementia with Lewy bodies (DLB)...
  6. Bultron G, Kacena K, Pearson D, Boxer M, Yang R, Sathe S, et al. The risk of Parkinson's disease in type 1 Gaucher disease. J Inherit Metab Dis. 2010;33:167-73 pubmed publisher
    In Gaucher disease, defective lysosomal glucocerebrosidase due to mutations in the GBA1 gene results in lysosomal accumulation of glucocerebroside in mononuclear phagocytes and a multisystemic phenotype...
  7. Tan E, Tong J, Fook Chong S, Yih Y, Wong M, Pavanni R, et al. Glucocerebrosidase mutations and risk of Parkinson disease in Chinese patients. Arch Neurol. 2007;64:1056-8 pubmed
  8. Huang C, Wu Chou Y, Lai S, Chang H, Yeh T, Weng Y, et al. Contribution of glucocerebrosidase mutation in a large cohort of sporadic Parkinson's disease in Taiwan. Eur J Neurol. 2011;18:1227-32 pubmed publisher
    The association between glucocerebrosidase (GBA) mutations and Parkinson's disease (PD) is attracting increased attention worldwide...
  9. Bras J, Paisan Ruiz C, Guerreiro R, Ribeiro M, Morgadinho A, Januario C, et al. Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal. Neurobiol Aging. 2009;30:1515-7 pubmed
    ..We have found an increased number of Parkinson disease patients presenting mutations in GBA when compared to controls...
  10. Moraitou M, Hadjigeorgiou G, Monopolis I, Dardiotis E, Bozi M, Vassilatis D, et al. ?-Glucocerebrosidase gene mutations in two cohorts of Greek patients with sporadic Parkinson's disease. Mol Genet Metab. 2011;104:149-52 pubmed publisher
    ..several studies, despite individual differences, have shown that mutations in the ?-glucocerebrosidase gene (GBA) are a risk factor for PD...
  11. Zhang X, Bao Q, Zhuang X, Gan S, Zhao D, Liu Y, et al. Association of Common Variants in the Glucocerebrosidase Gene with High Susceptibility to Parkinson's Disease among Chinese. Chin J Physiol. 2012;55:398-404 pubmed publisher
    The genetic variants in glucocerebrosidase (GBA) gene have been previously examined as potential susceptibility factors for Parkinson's disease (PD)...
  12. Wang Y, Liu L, Xiong J, Zhang X, Chen Z, Yu L, et al. Glucocerebrosidase L444P mutation confers genetic risk for Parkinson's disease in central China. Behav Brain Funct. 2012;8:57 pubmed publisher
    Mutations of the glucocerebrosidase (GBA) gene have reportedly been associated with Parkinson disease (PD) in various ethnic populations such as Singaporean, Japanese, Formosan, Canadian, American, Portuguese, Greek, Brazilian, British, ..
  13. Schöndorf D, Aureli M, McAllister F, Hindley C, Mayer F, Schmid B, et al. iPSC-derived neurons from GBA1-associated Parkinson's disease patients show autophagic defects and impaired calcium homeostasis. Nat Commun. 2014;5:4028 pubmed publisher
    Mutations in the acid ?-glucocerebrosidase (GBA1) gene, responsible for the lysosomal storage disorder Gaucher's disease (GD), are the strongest genetic risk factor for Parkinson's disease (PD) known to date...
  14. Ron I, Rapaport D, Horowitz M. Interaction between parkin and mutant glucocerebrosidase variants: a possible link between Parkinson disease and Gaucher disease. Hum Mol Genet. 2010;19:3771-81 pubmed publisher
    ..activity of the lysosomal enzyme glucocerebrosidase (GCase), results from mutations in the GCase-encoding gene, GBA. We have shown that mutant GCase variants present variable degrees of endoplasmic reticulum (ER) retention and ..
  15. Ziegler S, Eblan M, Gutti U, Hruska K, Stubblefield B, Goker Alpan O, et al. Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease. Mol Genet Metab. 2007;91:195-200 pubmed
    ..in Gaucher probands and carriers, as well as by the presence of mutations in the gene for glucocerebrosidase (GBA) in different series of subjects with synucleinopathies...
  16. Winder Rhodes S, Evans J, Ban M, Mason S, Williams Gray C, Foltynie T, et al. Glucocerebrosidase mutations influence the natural history of Parkinson's disease in a community-based incident cohort. Brain. 2013;136:392-9 pubmed publisher
    Carriers of mutations in the glucocerebrosidase gene (GBA) are at increased risk of developing Parkinson's disease. The frequency of GBA mutations in unselected Parkinson's disease populations has not been established...
  17. DePaolo J, Goker Alpan O, Samaddar T, Lopez G, Sidransky E. The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism. Mov Disord. 2009;24:1571-8 pubmed publisher
    ..of work has emerged over the past decade demonstrating a relationship between mutations in glucocerebrosidase gene (GBA), the gene implicated in Gaucher disease (GD), and the development of parkinsonism...
  18. 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 reported...
  19. Aharon Peretz J, Rosenbaum H, Gershoni Baruch R. Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. N Engl J Med. 2004;351:1972-7 pubmed
    ..disease, which is caused by a glucocerebrosidase deficiency owing to mutations in the glucocerebrosidase gene (GBA), and parkinsonism. We examined whether mutations in the GBA gene are relevant to idiopathic Parkinson's disease...
  20. 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
    ..Chinese hamster-human somatic cell hybrids allowed assignment of the structural gene for glucocerebrosidase (glucosylceramidase; beta-D-glucosyl-N-acylsphingosine glucohydrolase, EC 3.2.1.45) to chromosome 1 bands q21-q32...
  21. Pankratz N, Beecham G, Destefano A, Dawson T, Doheny K, Factor S, et al. Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2. Ann Neurol. 2012;71:370-84 pubmed publisher
    ..The Replication Sample confirmed the associations with SNCA, MAPT, and the HLA region and also with GBA (E326K; OR=1.71; p=5×10(-8) Combined Sample) (N370; OR=3.08; p=7×10(-5) Replication sample)...
  22. Barrett M, Giraldo P, Capablo J, Alfonso P, Irun P, Garcia Rodriguez B, et al. Greater risk of parkinsonism associated with non-N370S GBA1 mutations. J Inherit Metab Dis. 2013;36:575-80 pubmed publisher
    Mutations in β-glucosidase (GBA1) are the most common genetic risk factor for Parkinson disease (PD)...
  23. Velayati A, Yu W, Sidransky E. The role of glucocerebrosidase mutations in Parkinson disease and Lewy body disorders. Curr Neurol Neurosci Rep. 2010;10:190-8 pubmed publisher
    Mutations in the gene encoding glucocerebrosidase (GBA), the enzyme deficient in the lysosomal storage disorder Gaucher disease, are associated with the development of Parkinson disease and other Lewy body disorders...
  24. Kalinderi K, Bostantjopoulou S, Paisan Ruiz C, Katsarou Z, Hardy J, Fidani L. Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece. Neurosci Lett. 2009;452:87-9 pubmed publisher
    Mutations in beta-glucocerebrosidase gene (GBA) have been implicated in Parkinson disease (PD). A Greek cohort of 172 PD patients and 132 control individuals were screened for GBA mutations by complete sequencing of the gene's exons...
  25. Maegawa G, Tropak M, Buttner J, Rigat B, Fuller M, Pandit D, et al. Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease. J Biol Chem. 2009;284:23502-16 pubmed publisher
    ..Thus, ABX has the biochemical characteristics of a safe and effective enzyme enhancement therapy agent for the treatment of patients with the most common GD genotypes...
  26. Swan M, Saunders Pullman R. The association between ß-glucocerebrosidase mutations and parkinsonism. Curr Neurol Neurosci Rep. 2013;13:368 pubmed publisher
    Mutations in the ß-glucocerebrosidase gene (GBA), which encodes the lysosomal enzyme ß-glucocerebrosidase, have traditionally been implicated in Gaucher disease, an autosomal recessive lysosomal storage disorder...
  27. Choi J, Kim W, Lyoo C, Kang S, Lee P, Baik J, et al. Association of mutations in the glucocerebrosidase gene with Parkinson disease in a Korean population. Neurosci Lett. 2012;514:12-5 pubmed publisher
    ..between Parkinson disease (PD) and mutations in the gene encoding the lysosomal enzyme glucocerebrosidase (GBA), which is deficient in patients with Gaucher disease...
  28. 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...
  29. Goker Alpan O, Schiffmann R, Lamarca M, Nussbaum R, McInerney Leo A, Sidransky E. Parkinsonism among Gaucher disease carriers. J Med Genet. 2004;41:937-40 pubmed
    ..Understanding the relationship between altered glucocerebrosidase and the development of parkinsonian manifestations will provide insights into the genetics, pathogenesis, and treatment of Parkinson disease. ..
  30. 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
    ..These data support a role for LIMP-2 as the mannose-6-phosphate-independent trafficking receptor for beta-glucocerebrosidase. ..
  31. Neumann J, Bras J, Deas E, O Sullivan S, Parkkinen L, Lachmann R, et al. Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. Brain. 2009;132:1783-94 pubmed publisher
    Mutations in the glucocerebrosidase gene (GBA) are associated with Gaucher's disease, the most common lysosomal storage disorder...
  32. Nalls M, Duran R, Lopez G, Kurzawa Akanbi M, McKeith I, Chinnery P, et al. A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies. JAMA Neurol. 2013;70:727-35 pubmed publisher
    While mutations in glucocerebrosidase (GBA1) are associated with an increased risk for Parkinson disease (PD), it is important to establish whether such mutations are also a common risk factor for other Lewy body disorders...
  33. Sidransky E, Lopez G. The link between the GBA gene and parkinsonism. Lancet Neurol. 2012;11:986-98 pubmed publisher
    Mutations in the glucocerebrosidase (GBA) gene, which encodes the lysosomal enzyme that is deficient in Gaucher's disease, are important and common risk factors for Parkinson's disease and related disorders...
  34. 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. ..
  35. McNeill A, Duran R, Proukakis C, Bras J, Hughes D, Mehta A, et al. Hyposmia and cognitive impairment in Gaucher disease patients and carriers. Mov Disord. 2012;27:526-32 pubmed publisher
    ..Impairment of olfaction, cognition, and parkinsonian motor signs occurs more frequently in Gaucher disease patients and carriers than in controls, which may indicate the early stages of neurodegeneration. ..
  36. Tsuang D, Leverenz J, Lopez O, Hamilton R, Bennett D, Schneider J, et al. GBA mutations increase risk for Lewy body disease with and without Alzheimer disease pathology. Neurology. 2012;79:1944-50 pubmed publisher
    Mutations in the GBA gene occur in 7% of patients with Parkinson disease (PD) and are a well-established susceptibility factor for PD, which is characterized by Lewy body disease (LBD) neuropathologic changes (LBDNCs)...
  37. Nichols W, Pankratz N, Marek D, Pauciulo M, Elsaesser V, Halter C, et al. Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset. Neurology. 2009;72:310-6 pubmed publisher
    To characterize sequence variation within the glucocerebrosidase (GBA) gene in a select subset of our sample of patients with familial Parkinson disease (PD) and then to test in our full sample whether these sequence variants increased ..
  38. Hatton C, Cooper A, Whitehouse C, Wraith J. Mutation analysis in 46 British and Irish patients with Gaucher's disease. Arch Dis Child. 1997;77:17-22 pubmed
    ..The recombinant mutations RecA456P and c1263del+RecTL have not been previously described and are the fourth and fifth recombinant mutations identified in the glucocerebrosidase gene. ..
  39. Spitz M, Rozenberg R, Pereira L, Reis Barbosa E. Association between Parkinson's disease and glucocerebrosidase mutations in Brazil. Parkinsonism Relat Disord. 2008;14:58-62 pubmed
    To evaluate the association between parkinsonism and mutations in the glucocerebrosidase gene (GBA) in Brazilian patients...
  40. 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
    ..Mice homozygous for this mutation have less than 4% of normal glucocerebrosidase activity, die within twenty-four hours of birth and store glucocerebroside in lysosomes of cells of the reticuloendothelial system. ..
  41. Sato C, Morgan A, Lang A, Salehi Rad S, Kawarai T, Meng Y, et al. Analysis of the glucocerebrosidase gene in Parkinson's disease. Mov Disord. 2005;20:367-70 pubmed
    ..A recent study suggested that up to 21% of subjects with PD may have mutations in the glucocerebrosidase (GBA) gene...
  42. Mitsui J, Mizuta I, Toyoda A, Ashida R, Takahashi Y, Goto J, et al. Mutations for Gaucher disease confer high susceptibility to Parkinson disease. Arch Neurol. 2009;66:571-6 pubmed publisher
    Increased frequency of pathogenic variants in GBA, the causative gene for Gaucher disease, has been suggested to be associated with Parkinson disease (PD)...
  43. Barneveld R, Keijzer W, Tegelaers F, Ginns E, Geurts van Kessel A, Brady R, et al. Assignment of the gene coding for human beta-glucocerebrosidase to the region q21-q31 of chromosome 1 using monoclonal antibodies. Hum Genet. 1983;64:227-31 pubmed
  44. Alcalay R, Caccappolo E, Mejia Santana H, Tang M, Rosado L, Orbe Reilly M, et al. Cognitive performance of GBA mutation carriers with early-onset PD: the CORE-PD study. Neurology. 2012;78:1434-40 pubmed publisher
    To assess the cognitive phenotype of glucocerebrosidase (GBA) mutation carriers with early-onset Parkinson disease (PD)...
  45. De Marco E, Annesi G, Tarantino P, Rocca F, Provenzano G, Civitelli D, et al. Glucocerebrosidase gene mutations are associated with Parkinson's disease in southern Italy. Mov Disord. 2008;23:460-3 pubmed
    Recent studies have reported an association between the glucocerebrosidase (GBA) gene and Parkinson's disease (PD)...
  46. Yap T, Gruschus J, Velayati A, Westbroek W, Goldin E, Moaven N, et al. Alpha-synuclein interacts with Glucocerebrosidase providing a molecular link between Parkinson and Gaucher diseases. J Biol Chem. 2011;286:28080-8 pubmed publisher
    ..Recent genetic studies reveal that mutations in the gene GBA are the most widespread genetic risk factor for parkinsonism identified to date...
  47. Sidransky E, Nalls M, Aasly J, Aharon Peretz J, Annesi G, Barbosa E, et al. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med. 2009;361:1651-61 pubmed publisher
    Recent studies indicate an increased frequency of mutations in the gene encoding glucocerebrosidase (GBA), a deficiency of which causes Gaucher's disease, among patients with Parkinson's disease...
  48. Alfonso P, Aznarez S, Giralt M, Pocovi M, Giraldo P. Mutation analysis and genotype/phenotype relationships of Gaucher disease patients in Spain. J Hum Genet. 2007;52:391-6 pubmed
    Mutations in the glucocerebrosidase (GBA) gene cause Gaucher disease (GD). The aim of this study was to characterise the GBA mutations and analyze genotype/phenotype relationships in 193 unrelated patients from the Spanish GD Registry...
  49. Murphy K, Gysbers A, Abbott S, Tayebi N, Kim W, Sidransky E, et al. Reduced glucocerebrosidase is associated with increased ?-synuclein in sporadic Parkinson's disease. Brain. 2014;137:834-48 pubmed publisher
    Heterozygous mutations in GBA1, the gene encoding lysosomal glucocerebrosidase, are the most frequent known genetic risk factor for Parkinson's disease...
  50. Goker Alpan O, Giasson B, Eblan M, Nguyen J, Hurtig H, Lee V, et al. Glucocerebrosidase mutations are an important risk factor for Lewy body disorders. Neurology. 2006;67:908-10 pubmed
    ..Mutations in this lysosomal protein may interfere with the clearance or promote aggregation of alpha-synuclein. ..
  51. Duran R, Mencacci N, Angeli A, Shoai M, Deas E, Houlden H, et al. The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease. Mov Disord. 2013;28:232-236 pubmed publisher
    Heterozygous loss-of-function mutations in the acid beta-glucocerebrosidase (GBA1) gene, responsible for the recessive lysosomal storage disorder, Gaucher's disease (GD), are the strongest known risk factor for Parkinson's disease (PD)...
  52. Clark L, Kartsaklis L, Wolf Gilbert R, Dorado B, Ross B, Kisselev S, et al. Association of glucocerebrosidase mutations with dementia with lewy bodies. Arch Neurol. 2009;66:578-83 pubmed publisher
    Mutations in the glucocerebrosidase (GBA) gene are associated with Lewy body (LB) disorders. To determine the relationship of GBA mutations and APOE4 genotype to LB and Alzheimer disease (AD) pathological findings. Case-control study...
  53. Lu J, Chiang J, Iyer R, Thompson E, Kaneski C, Xu D, et al. Decreased glucocerebrosidase activity in Gaucher disease parallels quantitative enzyme loss due to abnormal interaction with TCP1 and c-Cbl. Proc Natl Acad Sci U S A. 2010;107:21665-70 pubmed publisher
  54. Lwin A, Orvisky E, Goker Alpan O, LaMarca M, Sidransky E. Glucocerebrosidase mutations in subjects with parkinsonism. Mol Genet Metab. 2004;81:70-3 pubmed
    ..deficiency and parkinsonism in Gaucher disease prompted an examination of the glucocerebrosidase gene sequence (GBA) and enzyme activity in brain samples from 57 subjects carrying the diagnosis of Parkinson disease...
  55. 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)...
  56. Wu Y, Chen C, Chao C, Ro L, Lyu R, Chang K, et al. Glucocerebrosidase gene mutation is a risk factor for early onset of Parkinson disease among Taiwanese. J Neurol Neurosurg Psychiatry. 2007;78:977-9 pubmed
    Mutations in the glucocerebrosidase (GBA) gene have recently been identified as contributing to the development of Parkinson disease (PD) in Ashkenazi Jews...
  57. Sun Q, Guo J, Wang L, Yu R, Zuo X, Yao L, et al. Glucocerebrosidase gene L444P mutation is a risk factor for Parkinson's disease in Chinese population. Mov Disord. 2010;25:1005-11 pubmed publisher
    An association between mutations in the glucocerebrosidase (GBA) gene and Parkinson's disease (PD) has been reported in several populations...
  58. Hruska K, LaMarca M, Scott C, Sidransky E. Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). Hum Mutat. 2008;29:567-83 pubmed publisher
    ..Almost 300 unique mutations have been reported in the glucocerebrosidase gene (GBA), with a distribution that spans the gene...