Citations for
1GBA
Lipids regulate the hydrolysis of membrane bound glucosylceramide by lysosomal β-glucocerebrosidase.
Abdul-Hammed M, Breiden B, Schwarzmann G, Sandhoff K.
J Lipid Res 58(3):563-577. doi: 10.1194/jlr.M073510. Epub 2017 Jan 26. 2017
2GBA, PARK24
Neuropsychiatric characteristics of GBA-associated Parkinson disease.
Swan M, Doan N, Ortega RA, Barrett M, Nichols W, Ozelius L, Soto-Valencia J, Boschung S, Deik A, Sarva H, Cabassa J, Johannes B, Raymond D, Marder K, Giladi N, Miravite J, Severt W, Sachdev R, Shanker V, Bressman S, Saunders-Pullman R.
J Neurol Sci 370:63-69. doi: 10.1016/j.jns.2016.08.059. Epub 2016 Aug 30. 2016
3GBA, PARK24
Survival and dementia in GBA-associated Parkinson's disease: The mutation matters.
Cilia R, Tunesi S, Marotta G, Cereda E, Siri C, Tesei S, Zecchinelli AL, Canesi M, Mariani CB, Meucci N, Sacilotto G, Zini M, Barichella M, Magnani C, Duga S, Asselta R, Soldà G, Seresini A, Seia M, Pezzoli G, Goldwurm S.
Ann Neurol 80(5):662-673. doi: 10.1002/ana.24777. Epub 2016 Oct 3. 2016
4GBA, PARK24
Autophagic lysosome reformation dysfunction in glucocerebrosidase deficient cells: relevance to Parkinson disease.
Magalhaes J, Gegg ME, Migdalska-Richards A, Doherty MK, Whitfield PD, Schapira AH.
Hum Mol Genet 25(16):3432-3445. doi: 10.1093/hmg/ddw185. Epub 2016 Jul 4. 2016
5GBA, PARK24
Glucocerebrosidase enzyme activity in GBA mutation Parkinson's disease.
Ortega RA, Torres PA, Swan M, Nichols W, Boschung S, Raymond D, Barrett MJ, Johannes BA, Severt L, Shanker V, Hunt AL, Bressman S, Pastores GM, Saunders-Pullman R.
J Clin Neurosci 28:185-6. doi: 10.1016/j.jocn.2015.12.004. Epub 2016 Feb 5. 2016
6GBA, 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
7GBA
Loss of glucocerebrosidase 1 activity causes lysosomal dysfunction and α-synuclein aggregation.
Bae EJ, Yang NY, Lee C, Lee HJ, Kim S, Sardi SP, Lee SJ.
Exp Mol Med 47:e153. doi: 10.1038/emm.2014.128. Erratum in: Exp Mol Med. 2015;47:e188. 2015
8GBA, SCARB2
LIMP-2 expression is critical for β-glucocerebrosidase activity and α-synuclein clearance.
Rothaug M, Zunke F, Mazzulli JR, Schweizer M, Altmeppen H, Lüllmann-Rauch R, Kallemeijn WW, Gaspar P, Aerts JM, Glatzel M, Saftig P, Krainc D, Schwake M, Blanz J.
Proc Natl Acad Sci U S A 111(43):15573-8. doi: 10.1073/pnas.1405700111. Epub 2014 Oct 14. 2014
9GBA, SCARB2
LIMP-2 expression is critical for β-glucocerebrosidase activity and α-synuclein clearance.
Rothaug M, Zunke F, Mazzulli JR, Schweizer M, Altmeppen H, Lüllmann-Rauch R, Kallemeijn WW, Gaspar P, Aerts JM, Glatzel M, Saftig P, Krainc D, Schwake M, Blanz J.
Proc Natl Acad Sci U S A 111(43):15573-8. doi: 10.1073/pnas.1405700111. Epub 2014 Oct 14. 2014
10GBA
Reduced glucocerebrosidase is associated with increased α-synuclein in sporadic Parkinson's disease.
Murphy KE, Gysbers AM, Abbott SK, Tayebi N, Kim WS, Sidransky E, Cooper A, Garner B, Halliday GM.
Brain 137(Pt 3):834-48. doi: 10.1093/brain/awt367. Epub 2014 Jan 28. 2014
11GBA, ITCH
ITCH regulates degradation of mutant glucocerebrosidase: implications to Gaucher disease.
Maor G, Filocamo M, Horowitz M.
Hum Mol Genet 22(7):1316-27. doi: 10.1093/hmg/dds535. Epub 2012 Dec 18. 2013
12GBA
Cholesterol glucosylation is catalyzed by transglucosylation reaction of β-glucosidase 1.
Akiyama H, Kobayashi S, Hirabayashi Y, Murakami-Murofushi K.
Biochem Biophys Res Commun 441(4):838-43. doi: 10.1016/j.bbrc.2013.10.145. Epub 2013 Nov 6. 2013
13GBA, PSAP, SNCA
Saposin C protects glucocerebrosidase against α-synuclein inhibition.
Yap TL, Gruschus JM, Velayati A, Sidransky E, Lee JC.
Biochemistry 52(41):7161-3. doi: 10.1021/bi401191v. Epub 2013 Oct 1. 2013
14GBA, 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
15GBA
Histone deacetylase inhibitors prevent the degradation and restore the activity of glucocerebrosidase in Gaucher disease.
Lu J, Yang C, Chen M, Ye DY, Lonser RR, Brady RO, Zhuang Z.
Proc Natl Acad Sci U S A. 108(52):21200-5. 2011
16GBA
Alpha-synuclein interacts with Glucocerebrosidase providing a molecular link between Parkinson and Gaucher diseases.
Yap TL, Gruschus JM, Velayati A, Westbroek W, Goldin E, Moaven N, Sidransky E, Lee JC.
J Biol Chem. 286(32):28080-8. 2011
17GBA
Decreased glucocerebrosidase activity in Gaucher disease parallels quantitative enzyme loss due to abnormal interaction with TCP1 and c-Cbl.
Lu J, Chiang J, Iyer RR, Thompson E, Kaneski CR, Xu DS, Yang C, Chen M, Hodes RJ, Lonser RR, Brady RO, Zhuang Z.
Proc Natl Acad Sci U S A. 107(50):21665-70 2010
18GBA
Interaction between parkin and mutant glucocerebrosidase variants: a possible link between Parkinson disease and Gaucher disease.
Ron I, Rapaport D, Horowitz M.
Hum Mol Genet. 19(19):3771-81 2010
19DLB2, GBA, PARK24
Association of glucocerebrosidase mutations with dementia with lewy bodies.
Clark LN, Kartsaklis LA, Wolf Gilbert R, Dorado B, Ross BM, Kisselev S, Verbitsky M, Mejia-Santana H, Cote LJ, Andrews H, Vonsattel JP, Fahn S, Mayeux R, Honig LS, Marder K.
Arch Neurol 66(5):578-83. 2009
20GBA, PARK24
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.
Sidransky E, Nalls MA, Aasly JO, Aharon-Peretz J, Annesi G, Barbosa ER, Bar-Shira A, Berg D, Bras J, Brice A, Chen CM, Clark LN, Condroyer C, De Marco EV, Dürr A, Eblan MJ, Fahn S, Farrer MJ, Fung HC, Gan-Or Z, Gasser T, Gershoni-Baruch R, Giladi N, Griffith A, Gurevich T, Januario C, Kropp P, Lang AE, Lee-Chen GJ, Lesage S, Marder K, Mata IF, Mirelman A, Mitsui J, Mizuta I, Nicoletti G, Oliveira C, Ottman R, Orr-Urtreger A, Pereira LV, Quattrone A, Rogaeva E, Rolfs A, Rosenbaum H, Rozenberg R, Samii A, Samaddar T, Schulte C, Sharma M, Singleton A, Spitz M, Tan EK, Tayebi N, Toda T, Troiano AR, Tsuji S, Wittstock M, Wolfsberg TG, Wu YR, Zabetian CP, Zhao Y, Ziegler SG.
N Engl J Med 361(17):1651-61. 2009
21GBA, PARK24
Mutations for Gaucher disease confer high susceptibility to Parkinson disease.
Mitsui J, Mizuta I, Toyoda A, Ashida R, Takahashi Y, Goto J, Fukuda Y, Date H, Iwata A, Yamamoto M, Hattori N, Murata M, Toda T, Tsuji S.
Arch Neurol 66(5):571-6. 2009
22GBA, PARK24
Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset.
Nichols WC, Pankratz N, Marek DK, Pauciulo MW, Elsaesser VE, Halter CA, Rudolph A, Wojcieszek J, Pfeiffer RF, Foroud T; Parkinson Study Group-PROGENI Investigators.
Neurology 72(4):310-6. Epub 2008 Nov 5. 2009
23GBA, PARK24
Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset.
Gan-Or Z, Giladi N, Rozovski U, Shifrin C, Rosner S, Gurevich T, Bar-Shira A, Orr-Urtreger A.
Neurology 70(24):2277-83. Epub 2008 Apr 23. 2008
24GBA
Structure of acid beta-glucosidase with pharmacological chaperone provides insight into Gaucher disease.
Lieberman RL, Wustman BA, Huertas P, Powe AC Jr, Pine CW, Khanna R, Schlossmacher MG, Ringe D, Petsko GA.
Nat Chem Biol 3(2):101-7. Epub 2006 Dec 24. 2007
25SCARB2, GBA
LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase.
Reczek D, Schwake M, Schršder J, Hughes H, Blanz J, Jin X, Brondyk W, Van Patten S, Edmunds T, Saftig P.
Cell 131(4):770-83. 2007
26GBA, PARK24
Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease.
Clark LN, Ross BM, Wang Y, Mejia-Santana H, Harris J, Louis ED, Cote LJ, Andrews H, Fahn S, Waters C, Ford B, Frucht S, Ottman R, Marder K.
Neurology 69(12):1270-7. 2007
27GBA
Murine models of acute neuronopathic Gaucher disease.
Enquist IB, Lo Bianco C, Ooka A, Nilsson E, Mċnsson JE, Ehinger M, Richter J, Brady RO, Kirik D, Karlsson S.
Proc Natl Acad Sci U S A. 104(44):17483-8. 2007
28GBA
Reexamination of the cysteine residues in glucocerebrosidase.
Moharram R, Maynard D, Wang ES, Makusky A, Murray GJ, Martin BM.
FEBS Lett 580(14):3391-4. Epub 2006 May 11. 2006
29GBA, GBA1
Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease
Tayebi N, Stubblefield BK, Park JK, Orvisky E, Walker JM, LaMarca ME, Sidransky E.
Am J Hum Genet 72(3):519-34. 2003
30GBA, 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
31GBA, 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
32GBA, 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
33GBA, 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
34GBA, 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
35GBA, 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
36GBA, GBA1
Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients.
Amaral O, Marcao A, Sa Miranda M, Desnick RJ, Grace ME.
Eur J Hum Genet 8(2):95-102. 2000
37GBA, 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
38GBA, GBA1, GBA3
Analysis and Classification of 304 Mutant Alleles in Patients with Type 1 and Type 3 Gaucher Disease.
Koprivica V, Stone DL, Park JK, Callahan M, Frisch A, Cohen IJ, Tayebi N, Sidransky E.
Am J Hum Genet 66(6):1777-1786. 2000
39GBA, 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
40GBA, 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
41ENTREP3, GBA, GBA2
Type 2 Gaucher Disease: An Expanding Phenotype.
Tayebi N, et al.
Mol Genet Metab 68(2):209-219. No abstract available 1999
42GBA, 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
43GBA, 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
44GBA
Mice with type 2 and 3 Gaucher disease point mutations generated by a single insertion mutagenesis procedure.
Liu Y, Suzuki K, Reed JD, Grinberg A, Westphal H, Hoffmann A, Döring T, Sandhoff K, Proia RL.
Proc Natl Acad Sci U S A. 95(5):2503-8. 1998
45GBA
Expression of mutated glucocerebrosidase alleles in human cells.
Pasmanik-Chor M, Madar-Shapiro L, Stein EO, Aerts H, Gatt S, Horowitz M.
Hum Mol Genet 6(6):887-95. 1997
46GBA, 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
47GBA, 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
48GBA, GBA1
Type I Gaucher disease due to homozygosity for the 259T mutation in a Bedouin patient.
Rockah R, Narinsky R, Hatskelzon L, Frisch A.
Am J Med Genet 72(1):77-8. 1997
49CLK2, ENTREP3, 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
50CLK2, ENTREP3, GBA, GBA1, GBA2, GBA3, GBAP, SCAMP3
Gaucher disease phenotypes outflanked?
Beutler E.
Genome Res 7(10):950-1. 1997
51GBA, 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
52GBA
Gaucher Disease : identification of three new mutations in the Korean and Chinese (Taiwanese) populations.
Kim JW, et al.
Hum Mutat 7 : 214-218. 1996
53GBA, 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
54GBA
Gaucher disease : studies of phenotype, molecular diagnosis and treatment.
Rice EO, et al.
Clin Genet 49 : 111-118. 1996
55GBA, GBA3
Two new missense mutations in a non-Jewish Caucasian family with type 3 Gaucher disease.
Seeman PJV, et al.
Neurology 46 : 1102-1107. 1996
56GBA
Glucocerebrosidase (Gaucher disease).
Beutler E, et al.
Hum Mutat 8 : 207-213. 1996
57GBA, 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
58GBA, GBA1, GBA2, GBA3
The glucocerebrosidase D409H mutation in Gaucher disease.
Pasmanik-Chor M, et al.
Biochem Mol Med 59 : 125-133. 1996
59GBA, 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
60GBA, 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
61PSGD, GBA, GBA1
Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype.
Abrahamov A, Elstein D, Gross-Tsur V, Farber B, Glaser Y, Hadas-Halpern I, Ronen S, Tafakjdi M, Horowitz M, Zimran A.
Lancet 346(8981):1000-3. 1995
62PSGD, GBA, GBA1
Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation.
Chabas A, Cormand B, Grinberg D, Burguera JM, Balcells S, Merino JL, Mate I, Sobrino JA, Gonzalez-Duarte R, Vilageliu L.
J Med Genet 32(9):740-2. 1995
63GBA, GBA1, GBA2, GBA3
Mutations causing Gaucher disease.
Horowitz M, et al.
Hum Mutat 3 : 1-11. 1994
64GBA
Two new Gaucher disease mutations.
Beutler E, et al.
Hum Genet 93 : 209-210. 1994
65GBA
Rec TL : a complex allele of the glucocerebrosidase gene associated with a mild clinical course of Gaucher disease.
Zimran A, et al.
Am J Med Genet 50 : 74-78. 1994
66GBA
A new missense mutation in glucocerebrosidase exon 9 of a non-Jewish Caucasian type 1 Gaucher disease patient.
Choy FYM, et al.
Hum Mol Genet 3 : 821-823. 1994
67PYKH, GBA
Tight linkage of pyruvate kinase (PKLR) and glucocerebrosidase (GBA) genes.
Glenn D, et al.
Hum Genet 93 : 635-638. 1994
68GBA
Use of denaturing gradient gel electrophoresis to identify mutant sequences in the beta-glucocerebrosidase gene.
Laubscher KH, et al.
Hum Mutat 3 : 411-415. 1994
69GBA, GBA1
Molecular characterisation of type 1 Gaucher disease families and patients : intrafamilial heterogeneity at the clinical level.
Amaral O, et al.
J Med Genet 31 : 401-404. 1994
70GBA, GBA1, GBA2, GBA3
Gaucher disease : N370S glucocerebrosidase gene frequency in the Portuguese population.
Lacerda L, et al.
Clin Genet 45 : 298-300. 1994
71GBA
New Gaucher disease mutations in exon 10 : a novel L444R mutation produces a new NciI site the same as L444P.
Uchiyama A, et al.
Hum Mol Genet 3 : 1183-1184. 1994
72GBA, 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
73GBA
Erroneous assignment of Gaucher disease genotype as a consequence of a complete gene deletion.
Beutler E, et al.
Hum Mutat 4 : 212-216. 1994
74GBA, 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
75GBA, GBA1
Phenotype/genotype correlations in Gaucher disease type 1 : clinical and therapeutic implications.
Sibille A, et al.
Am J Hum Genet 52 : 1094-1101. 1993
76GBA, 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
77GBA
Molecular screening of Japanese patients with Gaucher disease : phenotypic variability in the same genotypes.
Kawame H, et al.
Hum Mutat 2 : 362-367. 1993
78GBA
Prevalence of nine mutations among Jewish and non-Jewish gaucher disease patients.
Horowitz M, et al.
Am J Hum Genet 53 : 921-930. 1993
79GBA
A novel point mutation (D380A) and a rare deletion (1255del55) in the glucocerebrosidase gene causing Gaucher's disease.
Walley AJ, et al.
Hum Mol Genet 2 : 1737-1738. 1993
80GBA
Gaucher disease mutations in non-Jewish patients.
Beutler E, et al.
Br J Haematol 85 : 401-405. 1993
81GBA, GBA1, GBA2, GBA3
Identification of six new Gaucher disease mutations.
Beutler E, et al.
Genomics 15 : 203-205. 1993
82GBA
DNA mutation analysis of Gaucher patients.
Sidransky E, et al.
Am J Med Genet 42 : 331-336. 1992
83GBA
Polymorphisms in the human glucocerebrosidase gene.
Beutler E, et al.
Genomics 12 : 795-800. 1992
84GBA
Mutations in Jewish Patients with Gaucher disease.
Beutler E, et al.
Blood 79 : 1662-1666. 1992
85GBA
Rapid identification of mutations in the glucocerebrosidase gene of Gaucher disease patients by analysis of single-strand conformation polymorphisms.
Kawame H, et al.
Hum Genet 90 : 294-296. 1992
86GBAP, GBA
Gaucher disease : A G+1-A+1 IVS2 splice donor site mutation causing exon 2 skipping in the acid beta-glucosidase mRNA.
He GS, et al.
Am J Hum Genet 51 : 810-820. 1992
87GBA
Mutation analysis for prenatal diagnosis and heterozygote detection of Gaucher disease type III (Norrbottnian type).
Dahl N, et al.
Prenat Diagn 12 : 603-608. 1992
88GBA
Heterogeneity of mutations in the acid beta-glucosidase gene of Gaucher disease patients.
Latham TE, et al.
DNA Cell Biol 10 : 15-21. 1991
89GBA
Clinical phenotype of Gaucher disease in relation to properties of mutant glucocerebrosidase in cultured fibroblasts.
Van Weely S, et al.
Biochim Biophys Acta 1096 : 301-311. 1991
90GBA
Gaucher disease : heterologous expression of two alleles associated with neuronopathic phenotypes.
Grace ME, et al.
Am J Hum Genet 49 : 646-655. 1991
91GBA
High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews.
Zimran A, et al.
Am J Hum Genet 49 : 855-859. 1991
92GBA
Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state.
Beutler E, et al.
Proc Natl Acad Sci U S A 88 : 10544-10547. 1991
93GBA
A new glucocerebrosidase-gene missense mutation responsible for neuronopathic Gaucher disease in Japanese patients.
Kawame H, et al.
Am J Hum Genet 49 : 1378-1380. 1991
94GBA
Molecular analysis of Gaucher disease in a Vietnamese-Czechoslovak patient with high residual glucocerebrosidase activity.
Choy FYM, et al.
Am J Med Genet 39 : 466-471. 1991
95GBA
Three unique base pair changes in a family with Gaucher disease.
Eyal N, et al.
Hum Genet 87 : 328-332. 1991
96GBA
Prevalent and rare mutations among Gaucher patients.
Eyal N, et al.
Gene 96 : 277-283. 1990
97GBA
Analyses of catalytic activity and inhibitor binding of human acid beta-glucosidase by site-directed mutagenesis.
Grace ME, et al.
J Biol Chem 265 : 6827-6835. 1990
98GBA
Genotype assignment in Gaucher disease by selective amplification of the active glucocerebrosidase gene.
Firon N, et al.
Am J Hum Genet 46 : 527-532. 1990
99GBA, GLB1
Complex alleles of the acid beta-glucosidase gene in Gaucher disease.
Latham T, Grabowski GA, Theophilus BD, Smith FI.
Am J Hum Genet 47(1):79-86. 1990
100GBA, GBA3
Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene.
Dahl N, Lagerstrom M, Erikson A, Pettersson U.
Am J Hum Genet 47(2):275-8. 1990
101GBA, GBAP
The human glucocerebrosidase gene and pseudogene: structure and evolution.
Horowitz M, et al.
Genomics 4 : 87-96. 1989
102GBA
Gaucher disease : molecular heterogeneity and phenotype correlations.
Theophilus B, et al.
Am J Hum Genet 45 : 212-225. 1989
103GBA
Prediction of severity of Gaucher's disease by identification of mutations at DNA level.
Zimran A, et al.
Lancet II : 349-352. 1989
104GBA
Tight linkage between type III Gaucher's disease (Norrbottnian type) and a MspI polymorphism within the gene for human glucocerebrosidase.
Dahl N, et al.
Genomics 3 : 296-298. 1988
105CMT1B, GBA
Linkage between the loci for autosomal dominant Charcot-Marie-Tooth neuropathy type 1 and human glucocerebrosidase.
Ionasescu V, et al.
Cytogenet Cell Genet 47 : 173-174. 1988
106GBA
Gene mapping and leader polypeptide sequence of human glucocerebrosidase:Implications for Gaucher disease.
Ginns EI, et al.
Proc Natl Acad Sci U S A 82 : 7101-7105. 1985
107GBA
Canine Gaucher disease--the enzymic defect.
Van De Water NS, Jolly RD, Farrow BR.
Aust J Exp Biol Med Sci. 57(5):551-4. 1979
108GBA
Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease.
Brady RO, et al.
J Clin Invest 45 : 1112-1115. 1966