| 1 | GBA, GBA1, GBA2, GBA3, PARK24
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| Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations.
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| Alcalay RN, Levy OA, Waters CC, Fahn S, Ford B, Kuo SH, Mazzoni P, Pauciulo MW, Nichols WC, Gan-Or Z, Rouleau GA, Chung WK, Wolf P, Oliva P, Keutzer J, Marder K, Zhang X.
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| Brain 138(Pt 9):2648-58. doi: 10.1093/brain/awv179. Epub 2015 Jun 27.
2015
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| 2 | GBA3
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| Klotho-related protein is a novel cytosolic neutral beta-glycosylceramidase.
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| Hayashi Y, Okino N, Kakuta Y, Shikanai T, Tani M, Narimatsu H, Ito M.
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| J Biol Chem 282(42):30889-900. Epub 2007 Jun 26. 2007
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| 3 | GBA, MTX1, GBA1, GBA2, GBA3
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| Gene rearrangements in the glucocerebrosidase-metaxin region giving rise to disease-causing mutations and polymorphisms. Analysis of 25 Rec NciI alleles in Gaucher disease patients.
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| Diaz-Font A, Cormand B, Blanco M, Chamoles N, Chabas A, Grinberg D, Vilageliu L.
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| Hum Genet 112(4):426-9. Epub 2003 Feb 14. 2003
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| 4 | GBA, GBA2, GBA3
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| Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3.
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| Goker-Alpan O, Schiffmann R, Park JK, Stubblefield BK, Tayebi N, Sidransky E.
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| J Pediatr 143(2):273-6. 2003
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| 5 | GBA, LAMP1, GBA1, GBA2, GBA3
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| Correlation among Genotype, Phenotype, and Biochemical Markers in Gaucher Disease: Implications for the Prediction of Disease Severity.
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| Whitfield PD, Nelson P, Sharp PC, Bindloss CA, Dean C, Ravenscroft EM, Fong BA, Fietz MJ, Hopwood JJ, Meikle PJ.
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| Mol Genet Metab 75(1):46-55. 2002
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| 6 | GBA, GBA1, GBA2, GBA3
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| Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry.
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| Weinreb NJ, Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, Rosenbloom BE, Scott CR, Wappner RS, Zimran A.
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| Am J Med 113(2):112-9. 2002
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| 7 | GBA3
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| Cloning and characterization of human liver cytosolic beta-glycosidase.
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| de Graaf M, van Veen IC, van der Meulen-Muileman IH, Gerritsen WR, Pinedo HM, Haisma HJ.
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| Biochem J 356(Pt 3):907-10. 2001
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| 8 | GBA, GBA1, GBA2, GBA3
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| Age estimate of the N370S mutation causing Gaucher disease in Ashkenazi Jews and European populations: A reappraisal of haplotype data.
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| Colombo R.
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| Am J Hum Genet 66(2):692-7. 2000
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| 9 | GBA, GBA1, GBA3
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| Analysis and Classification of 304 Mutant Alleles in Patients with Type 1 and Type 3 Gaucher Disease.
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| Koprivica V, Stone DL, Park JK, Callahan M, Frisch A, Cohen IJ, Tayebi N, Sidransky E.
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| Am J Hum Genet 66(6):1777-1786. 2000
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| 10 | GBA, GBA1, GBA2, GBA3
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| Clinical and genetic studies of Japanese homozygotes for the Gaucher disease L444P mutation.
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| Ida H, et al.
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| Hum Genet 105(1-2):120-6. 1999
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| 11 | GBA, GBA1, GBA2, GBA3
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| Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers : mutation profile and genotype/phenotype correlations in Gaucher disease.
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| Germain DP, Puech JP, Caillaud C, Kahn A, Poenaru L.
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| Am J Hum Genet 63 : 415-427. 1998
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| 12 | GBA, PSAP, GBA1, GBA2, GBA3
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| Genetic fine localization of the beta-glucocerebrosidase (GBA) and prosaposin (PSAP) genes: implications for Gaucher disease.
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| Cormand B, Montfort M, Chabas A, Vilageliu L, Grinberg D.
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| Hum Genet 100(1):75-9. 1997
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| 13 | GBA, GBA1, GBA2, GBA3
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| Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses.
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| Cormand B, Grinberg D, Gort L, Fiumara A, Barone R, Vilageliu L, Chabas A.
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| Am J Med Genet 70(4):437-43. 1997
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| 14 | CLK2, ENTREP3, GBA, GBA1, GBA2, GBA3, GBAP, MTX1, SCAMP3
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| Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease.
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| Winfield SL, Tayebi N, Martin BM, Ginns EI, Sidransky E.
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| Genome Res 7(10):1020-6. 1997
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| 15 | CLK2, ENTREP3, GBA, GBA1, GBA2, GBA3, GBAP, SCAMP3
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| Gaucher disease phenotypes outflanked?
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| Beutler E.
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| Genome Res 7(10):950-1. 1997
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| 16 | GBA, GBA1, GBA2, GBA3
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| Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the beta-glucocerebrosidase gene in Gaucher's disease patients.
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| Cormand B, et al.
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| Hum Mutat 7 : 272-274. 1996
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| 17 | GBA, GBA3
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| Two new missense mutations in a non-Jewish Caucasian family with type 3 Gaucher disease.
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| Seeman PJV, et al.
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| Neurology 46 : 1102-1107. 1996
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| 18 | GBA, GBA1, GBA2, GBA3
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| 55-base pair deletion in certain patients with Gaucher disease complicates screening for common Gaucher alleles.
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| Tayebi N, et al.
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| Am J Med Genet 66 : 316-319. 1996
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| 19 | GBA, GBA1, GBA2, GBA3
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| The glucocerebrosidase D409H mutation in Gaucher disease.
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| Pasmanik-Chor M, et al.
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| Biochem Mol Med 59 : 125-133. 1996
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| 20 | GBA, GBA1, GBA2, GBA3
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| A rare G6490 -> a substitution at the last nucleotide of exon 10 of the glucocerebrosidase gene in two unrelated Italian Gaucher patients.
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| Seri M, Filocamo M, Corsolini F, Bembi B, Barbera C, Gatti R.
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| Clin Genet 48 : 123-127. 1995
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| 21 | GBA, GBA1, GBA2, GBA3
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| Characteristics of gene mutations among 32 unrelated Japanese Gaucher disease patients : absence of the common Jewish 84GG and 1226G mutations.
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| Ida H, et al.
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| Hum Genet 95 : 717-720. 1995
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| 22 | GBA, GBA1, GBA2, GBA3
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| Mutations causing Gaucher disease.
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| Horowitz M, et al.
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| Hum Mutat 3 : 1-11. 1994
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| 23 | GBA, GBA1, GBA2, GBA3
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| Gaucher disease : N370S glucocerebrosidase gene frequency in the Portuguese population.
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| Lacerda L, et al.
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| Clin Genet 45 : 298-300. 1994
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| 24 | GBA, GBA1, GBA2, GBA3
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| Y418C : a novel mutation in exon 9 of the glucocerebrosidase gene of a patient with Gaucher disease creates a new Bgl I site.
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| Tuteja R, et al.
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| Hum Genet 94 : 314-315. 1994
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| 25 | GBA, GBA1, GBA2, GBA3
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| The glucocerebrosidase locus in Gaucher's disease : molecular analysis of a lysosomal enzyme.
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| Mistry PK, et al.
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| J Med Genet 30 : 889-894. 1993
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| 26 | GBA, GBA1, GBA2, GBA3
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| A novel splicing abnormality in a Japanese patient with Gaucher's disease.
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| Ohshima T, et al.
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| Hum Mol Genet 2 : 1497-1498. 1993
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| 27 | GBA, GBA1, GBA2, GBA3
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| Identification of six new Gaucher disease mutations.
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| Beutler E, et al.
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| Genomics 15 : 203-205. 1993
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| 28 | GBA, GBA3
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| Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene.
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| Dahl N, Lagerstrom M, Erikson A, Pettersson U.
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| Am J Hum Genet 47(2):275-8. 1990
|