Citations for
1GBA2, MSS1L
GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies.
Haugarvoll K, Johansson S, Rodriguez CE, Boman H, Haukanes BI, Bruland O, Roque F, Jonassen I, Blomqvist M, Telstad W, Månsson JE, Knappskog PM, Bindoff LA.
PLoS One 12(1):e0169309. doi: 10.1371/journal.pone.0169309. eCollection 2017. 2017
2GBA2, SPG46
SPG46 and SPG56 are rare causes of hereditary spastic paraplegia in China.
Yang YJ, Zhou ZF, Liao XX, Luo YY, Zhan ZX, Huang MF, Zhou L, Tang BS, Shen L, Du J.
J Neurol 263(10):2136-8. doi: 10.1007/s00415-016-8256-3. Epub 2016 Aug 23. No abstract available. 2016
3GBA, GBA1, GBA2, GBA3, PARK24
Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations.
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.
Brain 138(Pt 9):2648-58. doi: 10.1093/brain/awv179. Epub 2015 Jun 27. 2015
4GBA2, SPG46
Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46).
Sultana S, Reichbauer J, Schüle R, Mochel F, Synofzik M, van der Spoel AC.
Biochem Biophys Res Commun 465(1):35-40. doi: 10.1016/j.bbrc.2015.07.112. Epub 2015 Jul 26. 2015
5GBA2
Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease.
Mistry PK, Liu J, Sun L, Chuang WL, Yuen T, Yang R, Lu P, Zhang K, Li J, Keutzer J, Stachnik A, Mennone A, Boyer JL, Jain D, Brady RO, New MI, Zaidi M.
Proc Natl Acad Sci U S A 111(13):4934-9. doi: 10.1073/pnas.1400768111. Epub 2014 Mar 17. 2014
6GBA2
A novel GBA2 gene missense mutation in spastic ataxia.
Votsi C, Zamba-Papanicolaou E, Middleton LT, Pantzaris M, Christodoulou K.
Ann Hum Genet 78(1):13-22. doi: 10.1111/ahg.12045. Epub 2013 Nov 20. 2014
7GBA2, SPG46
Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia.
Martin E, Schüle R, Smets K, Rastetter A, Boukhris A, Loureiro JL, Gonzalez MA, Mundwiller E, Deconinck T, Wessner M, Jornea L, Oteyza AC, Durr A, Martin JJ, Schöls L, Mhiri C, Lamari F, Züchner S, De Jonghe P, Kabashi E, Brice A, Stevanin G.
Am J Hum Genet 92(2):238-244. doi: 10.1016/j.ajhg.2012.11.021. Epub 2013 Jan 17. 2013
8GBA2, SPG46
Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity.
Hammer MB, Eleuch-Fayache G, Schottlaender LV, Nehdi H, Gibbs JR, Arepalli SK, Chong SB, Hernandez DG, Sailer A, Liu G, Mistry PK, Cai H, Shrader G, Sassi C, Bouhlal Y, Houlden H, Hentati F, Amouri R, Singleton AB.
Am J Hum Genet 92(2):245-51. doi: 10.1016/j.ajhg.2012.12.012. Epub 2013 Jan 17. 2013
9GBA2
The non-lysosomal β-glucosidase GBA2 is a non-integral membrane-associated protein at the endoplasmic reticulum (ER) and Golgi.
Körschen HG, Yildiz Y, Raju DN, Schonauer S, Bönigk W, Jansen V, Kremmer E, Kaupp UB, Wachten D.
J Biol Chem 288(5):3381-93. doi: 10.1074/jbc.M112.414714. Epub 2012 Dec 17. 2013
10GBA, GBA2
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.
Harzer K, Blech-Hermoni Y, Goldin E, Felderhoff-Mueser U, Igney C, Sidransky E, Yildiz Y.
Biochem Biophys Res Commun 423(2):308-12. doi: 10.1016/j.bbrc.2012.05.117. Epub 2012 May 30. 2012
11GBA2
Identification of the non-lysosomal glucosylceramidase as beta-glucosidase 2.
Boot RG, Verhoek M, Donker-Koopman W, Strijland A, van Marle J, Overkleeft HS, Wennekes T, Aerts JM.
J Biol Chem. 282(2):1305-12. 2007
12GBA2
Mutation of beta-glucosidase 2 causes glycolipid storage disease and impaired male fertility.
Yildiz Y, Matern H, Thompson B, Allegood JC, Warren RL, Ramirez DM, Hammer RE, Hamra FK, Matern S, Russell DW.
J Clin Invest. 116(11):2985-94. 2006
13GBA, MTX1, GBA1, GBA2, GBA3
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.
Diaz-Font A, Cormand B, Blanco M, Chamoles N, Chabas A, Grinberg D, Vilageliu L.
Hum Genet 112(4):426-9. Epub 2003 Feb 14. 2003
14GBA, GBA2, GBA3
Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3.
Goker-Alpan O, Schiffmann R, Park JK, Stubblefield BK, Tayebi N, Sidransky E.
J Pediatr 143(2):273-6. 2003
15GBA, LAMP1, GBA1, GBA2, GBA3
Correlation among Genotype, Phenotype, and Biochemical Markers in Gaucher Disease: Implications for the Prediction of Disease Severity.
Whitfield PD, Nelson P, Sharp PC, Bindloss CA, Dean C, Ravenscroft EM, Fong BA, Fietz MJ, Hopwood JJ, Meikle PJ.
Mol Genet Metab 75(1):46-55. 2002
16GBA, GBA1, GBA2, GBA3
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.
Weinreb NJ, Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, Rosenbloom BE, Scott CR, Wappner RS, Zimran A.
Am J Med 113(2):112-9. 2002
17GBA2
Molecular cloning and expression of human bile acid beta-glucosidase.
Matern H, Boermans H, Lottspeich F, Matern S.
J Biol Chem 276(41):37929-33. 2001
18GBA, GBA2
Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease.
Stone DL, Tayebi N, Orvisky E, Stubblefield B, Madike V, Sidransky E.
Hum Mutat 15(2):181-8. Review 2000
19GBA, GBA2
Severe type II gaucher disease with ichthyosis, arthrogryposis and neuronal apoptosis: molecular and pathological analyses.
Finn LS, Zhang M, Chen SH, Scott CR.
Am J Med Genet 91(3):222-6. 2000
20GBA, GBA1, GBA2, GBA3
Age estimate of the N370S mutation causing Gaucher disease in Ashkenazi Jews and European populations: A reappraisal of haplotype data.
Colombo R.
Am J Hum Genet 66(2):692-7. 2000
21ANKRD36B, BCOR, BEND3, CACHD1, CHD8, CNNM4, DDX55, DHTKD1, EIF2C4, EPB41L5, EPG5, FAM160B1, GBA2, GPAM, GPR107, HERC4, KIAA1586, KIAA1609, KIF16B, MAGEE1, MAGI3, MED12L, MED12L, METTL14, MIER1, MOV10, NCKAP5L, NCOA5, PCDHB16, RNF213, SEMA4G, SFMBT2, SMURF1, TNRC6C, TRPM3, USP37, VAT1L, WDFY4, WDR19, WNK3, ZBTB26, ZNF532, ZPR1 ZNF319, ZSWIM5, ZSWIM6
Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
Nagase T, Kikuno R, Nakayama M, Hirosawa M, Ohara O.
DNA Res 7(4):273-81. 2000
22GBA, GBA1, GBA2
Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease.
Grace ME, et al.
J Clin Invest 103(6):817-23. 1999
23GBA, GBA1, GBA2, GBA3
Clinical and genetic studies of Japanese homozygotes for the Gaucher disease L444P mutation.
Ida H, et al.
Hum Genet 105(1-2):120-6. 1999
24FAM189B, GBA, GBA2
Type 2 Gaucher Disease: An Expanding Phenotype.
Tayebi N, et al.
Mol Genet Metab 68(2):209-219. No abstract available 1999
25GBA, GBA1, GBA2, GBA3
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.
Germain DP, Puech JP, Caillaud C, Kahn A, Poenaru L.
Am J Hum Genet 63 : 415-427. 1998
26GBA, GBA2
A novel complex allele and two new point mutations in type 2 (acute neuronopathic) Gaucher disease.
Choy FYM, et al.
Blood Cells Mol Dis 24 : 420-427. 1998
27GBA, PSAP, GBA1, GBA2, GBA3
Genetic fine localization of the beta-glucocerebrosidase (GBA) and prosaposin (PSAP) genes: implications for Gaucher disease.
Cormand B, Montfort M, Chabas A, Vilageliu L, Grinberg D.
Hum Genet 100(1):75-9. 1997
28GBA, GBA1, GBA2, GBA3
Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses.
Cormand B, Grinberg D, Gort L, Fiumara A, Barone R, Vilageliu L, Chabas A.
Am J Med Genet 70(4):437-43. 1997
29CLK2, FAM189B, GBA, GBA1, GBA2, GBA3, GBAP, MTX1, SCAMP3
Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease.
Winfield SL, Tayebi N, Martin BM, Ginns EI, Sidransky E.
Genome Res 7(10):1020-6. 1997
30CLK2, FAM189B, GBA, GBA1, GBA2, GBA3, GBAP, SCAMP3
Gaucher disease phenotypes outflanked?
Beutler E.
Genome Res 7(10):950-1. 1997
31GBA, GBA2
The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease.
Sidransky E, et al.
J Med Genet 33 : 132-136. 1996
32GBA, GBA1, GBA2, GBA3
Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the beta-glucocerebrosidase gene in Gaucher's disease patients.
Cormand B, et al.
Hum Mutat 7 : 272-274. 1996
33GBA, GBA1, GBA2, GBA3
55-base pair deletion in certain patients with Gaucher disease complicates screening for common Gaucher alleles.
Tayebi N, et al.
Am J Med Genet 66 : 316-319. 1996
34GBA, GBA1, GBA2, GBA3
The glucocerebrosidase D409H mutation in Gaucher disease.
Pasmanik-Chor M, et al.
Biochem Mol Med 59 : 125-133. 1996
35GBA, GBA1, GBA2, GBA3
A rare G6490 -> a substitution at the last nucleotide of exon 10 of the glucocerebrosidase gene in two unrelated Italian Gaucher patients.
Seri M, Filocamo M, Corsolini F, Bembi B, Barbera C, Gatti R.
Clin Genet 48 : 123-127. 1995
36GBA, GBA1, GBA2, GBA3
Characteristics of gene mutations among 32 unrelated Japanese Gaucher disease patients : absence of the common Jewish 84GG and 1226G mutations.
Ida H, et al.
Hum Genet 95 : 717-720. 1995
37GBA, GBA1, GBA2, GBA3
Mutations causing Gaucher disease.
Horowitz M, et al.
Hum Mutat 3 : 1-11. 1994
38GBA, GBA1, GBA2, GBA3
Gaucher disease : N370S glucocerebrosidase gene frequency in the Portuguese population.
Lacerda L, et al.
Clin Genet 45 : 298-300. 1994
39GBA, GBA1, GBA2, GBA3
Y418C : a novel mutation in exon 9 of the glucocerebrosidase gene of a patient with Gaucher disease creates a new Bgl I site.
Tuteja R, et al.
Hum Genet 94 : 314-315. 1994
40GBA, GBA1, GBA2, GBA3
The glucocerebrosidase locus in Gaucher's disease : molecular analysis of a lysosomal enzyme.
Mistry PK, et al.
J Med Genet 30 : 889-894. 1993
41GBA, GBA1, GBA2, GBA3
A novel splicing abnormality in a Japanese patient with Gaucher's disease.
Ohshima T, et al.
Hum Mol Genet 2 : 1497-1498. 1993
42GBA, GBA1, GBA2, GBA3
Identification of six new Gaucher disease mutations.
Beutler E, et al.
Genomics 15 : 203-205. 1993