| 1 | GBA
|
| 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
|
| 2 | GBA, 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
|
| 3 | GBA, 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
|
| 4 | GBA, 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
|
| 5 | GBA, 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
|
| 6 | GBA, 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
|
| 7 | GBA
|
| 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
|
| 8 | GBA, 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
|
| 9 | GBA, 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
|
| 10 | GBA
|
| 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
|
| 11 | GBA, 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
|
| 12 | GBA
|
| 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
|
| 13 | GBA, 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
|
| 14 | GBA, 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
|
| 15 | GBA
|
| 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
|
| 16 | GBA
|
| 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
|
| 17 | GBA
|
| 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
|
| 18 | GBA
|
| 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
|
| 19 | DLB2, 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
|
| 20 | GBA, 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
|
| 21 | GBA, 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
|
| 22 | GBA, 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
|
| 23 | GBA, 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
|
| 24 | GBA
|
| 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
|
| 25 | SCARB2, GBA
|
| LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase.
|
| Reczek D, Schwake M, Schrder J, Hughes H, Blanz J, Jin X, Brondyk W, Van Patten S, Edmunds T, Saftig P.
|
| Cell 131(4):770-83. 2007
|
| 26 | GBA, 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
|
| 27 | GBA
|
| 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
|
| 28 | GBA
|
| 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
|
| 29 | GBA, 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
|
| 30 | GBA, 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
|
| 31 | GBA, 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
|
| 32 | GBA, 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
|
| 33 | GBA, 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
|
| 34 | GBA, 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
|
| 35 | GBA, 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
|
| 36 | GBA, 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
|
| 37 | GBA, 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
|
| 38 | GBA, 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
|
| 39 | GBA, 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
|
| 40 | GBA, 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
|
| 41 | ENTREP3, GBA, GBA2
|
| Type 2 Gaucher Disease: An Expanding Phenotype.
|
| Tayebi N, et al.
|
| Mol Genet Metab 68(2):209-219. No abstract available 1999
|
| 42 | GBA, 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
|
| 43 | GBA, 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
|
| 44 | GBA
|
| 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
|
| 45 | GBA
|
| 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
|
| 46 | GBA, 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
|
| 47 | GBA, 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
|
| 48 | GBA, 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
|
| 49 | CLK2, 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
|
| 50 | CLK2, ENTREP3, GBA, GBA1, GBA2, GBA3, GBAP, SCAMP3
|
| Gaucher disease phenotypes outflanked?
|
| Beutler E.
|
| Genome Res 7(10):950-1. 1997
|
| 51 | GBA, 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
|
| 52 | GBA
|
| Gaucher Disease : identification of three new mutations in the Korean and Chinese (Taiwanese) populations.
|
| Kim JW, et al.
|
| Hum Mutat 7 : 214-218. 1996
|
| 53 | GBA, 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
|
| 54 | GBA
|
| Gaucher disease : studies of phenotype, molecular diagnosis and treatment.
|
| Rice EO, et al.
|
| Clin Genet 49 : 111-118. 1996
|
| 55 | GBA, 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
|
| 56 | GBA
|
| Glucocerebrosidase (Gaucher disease).
|
| Beutler E, et al.
|
| Hum Mutat 8 : 207-213. 1996
|
| 57 | GBA, 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
|
| 58 | GBA, GBA1, GBA2, GBA3
|
| The glucocerebrosidase D409H mutation in Gaucher disease.
|
| Pasmanik-Chor M, et al.
|
| Biochem Mol Med 59 : 125-133. 1996
|
| 59 | GBA, 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
|
| 60 | GBA, 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
|
| 61 | PSGD, 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
|
| 62 | PSGD, 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
|
| 63 | GBA, GBA1, GBA2, GBA3
|
| Mutations causing Gaucher disease.
|
| Horowitz M, et al.
|
| Hum Mutat 3 : 1-11. 1994
|
| 64 | GBA
|
| Two new Gaucher disease mutations.
|
| Beutler E, et al.
|
| Hum Genet 93 : 209-210. 1994
|
| 65 | GBA
|
| 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
|
| 66 | GBA
|
| 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
|
| 67 | PYKH, GBA
|
| Tight linkage of pyruvate kinase (PKLR) and glucocerebrosidase (GBA) genes.
|
| Glenn D, et al.
|
| Hum Genet 93 : 635-638. 1994
|
| 68 | GBA
|
| 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
|
| 69 | GBA, 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
|
| 70 | GBA, GBA1, GBA2, GBA3
|
| Gaucher disease : N370S glucocerebrosidase gene frequency in the Portuguese population.
|
| Lacerda L, et al.
|
| Clin Genet 45 : 298-300. 1994
|
| 71 | GBA
|
| 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
|
| 72 | GBA, 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
|
| 73 | GBA
|
| Erroneous assignment of Gaucher disease genotype as a consequence of a complete gene deletion.
|
| Beutler E, et al.
|
| Hum Mutat 4 : 212-216. 1994
|
| 74 | GBA, 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
|
| 75 | GBA, 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
|
| 76 | GBA, 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
|
| 77 | GBA
|
| Molecular screening of Japanese patients with Gaucher disease : phenotypic variability in the same genotypes.
|
| Kawame H, et al.
|
| Hum Mutat 2 : 362-367. 1993
|
| 78 | GBA
|
| Prevalence of nine mutations among Jewish and non-Jewish gaucher disease patients.
|
| Horowitz M, et al.
|
| Am J Hum Genet 53 : 921-930. 1993
|
| 79 | GBA
|
| 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
|
| 80 | GBA
|
| Gaucher disease mutations in non-Jewish patients.
|
| Beutler E, et al.
|
| Br J Haematol 85 : 401-405. 1993
|
| 81 | GBA, GBA1, GBA2, GBA3
|
| Identification of six new Gaucher disease mutations.
|
| Beutler E, et al.
|
| Genomics 15 : 203-205. 1993
|
| 82 | GBA
|
| DNA mutation analysis of Gaucher patients.
|
| Sidransky E, et al.
|
| Am J Med Genet 42 : 331-336. 1992
|
| 83 | GBA
|
| Polymorphisms in the human glucocerebrosidase gene.
|
| Beutler E, et al.
|
| Genomics 12 : 795-800. 1992
|
| 84 | GBA
|
| Mutations in Jewish Patients with Gaucher disease.
|
| Beutler E, et al.
|
| Blood 79 : 1662-1666. 1992
|
| 85 | GBA
|
| 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
|
| 86 | GBAP, 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
|
| 87 | GBA
|
| 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
|
| 88 | GBA
|
| Heterogeneity of mutations in the acid beta-glucosidase gene of Gaucher disease patients.
|
| Latham TE, et al.
|
| DNA Cell Biol 10 : 15-21. 1991
|
| 89 | GBA
|
| 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
|
| 90 | GBA
|
| Gaucher disease : heterologous expression of two alleles associated with neuronopathic phenotypes.
|
| Grace ME, et al.
|
| Am J Hum Genet 49 : 646-655. 1991
|
| 91 | GBA
|
| 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
|
| 92 | GBA
|
| 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
|
| 93 | GBA
|
| 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
|
| 94 | GBA
|
| 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
|
| 95 | GBA
|
| Three unique base pair changes in a family with Gaucher disease.
|
| Eyal N, et al.
|
| Hum Genet 87 : 328-332. 1991
|
| 96 | GBA
|
| Prevalent and rare mutations among Gaucher patients.
|
| Eyal N, et al.
|
| Gene 96 : 277-283. 1990
|
| 97 | GBA
|
| 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
|
| 98 | GBA
|
| 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
|
| 99 | GBA, 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
|
| 100 | GBA, 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
|
| 101 | GBA, GBAP
|
| The human glucocerebrosidase gene and pseudogene: structure and evolution.
|
| Horowitz M, et al.
|
| Genomics 4 : 87-96. 1989
|
| 102 | GBA
|
| Gaucher disease : molecular heterogeneity and phenotype correlations.
|
| Theophilus B, et al.
|
| Am J Hum Genet 45 : 212-225. 1989
|
| 103 | GBA
|
| Prediction of severity of Gaucher's disease by identification of mutations at DNA level.
|
| Zimran A, et al.
|
| Lancet II : 349-352. 1989
|
| 104 | GBA
|
| 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
|
| 105 | CMT1B, 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
|
| 106 | GBA
|
| 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
|
| 107 | GBA
|
| 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
|
| 108 | GBA
|
| Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease.
|
| Brady RO, et al.
|
| J Clin Invest 45 : 1112-1115. 1966
|