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163 related items for PubMed ID: 15916907

  • 1. Use of fluorescent substrates for characterization of Gaucher disease mutations.
    Ron I, Dagan A, Gatt S, Pasmanik-Chor M, Horowitz M.
    Blood Cells Mol Dis; 2005; 35(1):57-65. PubMed ID: 15916907
    [Abstract] [Full Text] [Related]

  • 2. Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms.
    Montfort M, Chabás A, Vilageliu L, Grinberg D.
    Hum Mutat; 2004 Jun; 23(6):567-75. PubMed ID: 15146461
    [Abstract] [Full Text] [Related]

  • 3. Gaucher disease: functional expression of the normal glucocerebrosidase and Gaucher T1366G and G1604A alleles in Baculovirus-transfected Spodoptera frugiperda cells.
    Choy FY, Wei C, Levin D.
    Am J Med Genet; 1996 Oct 28; 65(3):184-9. PubMed ID: 9240741
    [Abstract] [Full Text] [Related]

  • 4. Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype: effect of the E326K change in neonatal and classic forms of the disease.
    Chabás A, Gort L, Díaz-Font A, Montfort M, Santamaría R, Cidrás M, Grinberg D, Vilageliu L.
    Blood Cells Mol Dis; 2005 Oct 28; 35(2):253-8. PubMed ID: 15967693
    [Abstract] [Full Text] [Related]

  • 5. Mutations causing Gaucher disease.
    Horowitz M, Zimran A.
    Hum Mutat; 1994 Oct 28; 3(1):1-11. PubMed ID: 8118460
    [Abstract] [Full Text] [Related]

  • 6. Miglustat (NB-DNJ) works as a chaperone for mutated acid beta-glucosidase in cells transfected with several Gaucher disease mutations.
    Alfonso P, Pampín S, Estrada J, Rodríguez-Rey JC, Giraldo P, Sancho J, Pocoví M.
    Blood Cells Mol Dis; 2005 Oct 28; 35(2):268-76. PubMed ID: 16039881
    [Abstract] [Full Text] [Related]

  • 7. Identification and characterization of a novel mutation c.1090G>T (G325W) and nine common mutant alleles leading to Gaucher disease in Spanish patients.
    Torralba MA, Pérez-Calvo JI, Pastores GM, Cenarro A, Giraldo P, Pocoví M.
    Blood Cells Mol Dis; 2001 Oct 28; 27(2):489-95. PubMed ID: 11259172
    [Abstract] [Full Text] [Related]

  • 8. Gaucher disease-associated glucocerebrosidases show mutation-dependent chemical chaperoning profiles.
    Sawkar AR, Adamski-Werner SL, Cheng WC, Wong CH, Beutler E, Zimmer KP, Kelly JW.
    Chem Biol; 2005 Nov 28; 12(11):1235-44. PubMed ID: 16298303
    [Abstract] [Full Text] [Related]

  • 9. Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease.
    Stone DL, Tayebi N, Orvisky E, Stubblefield B, Madike V, Sidransky E.
    Hum Mutat; 2000 Nov 28; 15(2):181-8. PubMed ID: 10649495
    [Abstract] [Full Text] [Related]

  • 10. Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease.
    Grace ME, Ashton-Prolla P, Pastores GM, Soni A, Desnick RJ.
    J Clin Invest; 1999 Mar 28; 103(6):817-23. PubMed ID: 10079102
    [Abstract] [Full Text] [Related]

  • 11. Chemical chaperones and permissive temperatures alter localization of Gaucher disease associated glucocerebrosidase variants.
    Sawkar AR, Schmitz M, Zimmer KP, Reczek D, Edmunds T, Balch WE, Kelly JW.
    ACS Chem Biol; 2006 May 23; 1(4):235-51. PubMed ID: 17163678
    [Abstract] [Full Text] [Related]

  • 12. An evolutionary and structure-based docking model for glucocerebrosidase-saposin C and glucocerebrosidase-substrate interactions - relevance for Gaucher disease.
    Atrian S, López-Viñas E, Gómez-Puertas P, Chabás A, Vilageliu L, Grinberg D.
    Proteins; 2008 Feb 15; 70(3):882-91. PubMed ID: 17803231
    [Abstract] [Full Text] [Related]

  • 13. [Biochemical and genetic diagnosis of Gaucher disease and its phenotypical heterogeneity].
    Beĭer EM, Bukina TM, Tsvetkova IV.
    Vopr Med Khim; 2000 Feb 15; 46(5):451-4. PubMed ID: 11204625
    [Abstract] [Full Text] [Related]

  • 14. Gaucher disease patient with myoclonus epilepsy and a novel mutation.
    Tajima A, Ohashi T, Hamano S, Higurashi N, Ida H.
    Pediatr Neurol; 2010 Jan 15; 42(1):65-8. PubMed ID: 20004867
    [Abstract] [Full Text] [Related]

  • 15. Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
    Hruska KS, LaMarca ME, Scott CR, Sidransky E.
    Hum Mutat; 2008 May 15; 29(5):567-83. PubMed ID: 18338393
    [Abstract] [Full Text] [Related]

  • 16. Glucocerebrosidase genotype of Gaucher patients in The Netherlands: limitations in prognostic value.
    Boot RG, Hollak CE, Verhoek M, Sloof P, Poorthuis BJ, Kleijer WJ, Wevers RA, van Oers MH, Mannens MM, Aerts JM, van Weely S.
    Hum Mutat; 1997 May 15; 10(5):348-58. PubMed ID: 9375849
    [Abstract] [Full Text] [Related]

  • 17. Transient expression of wild-type and mutant glucocerebrosidases in hybrid vaccinia expression system.
    Hodanová K, Melková Z, Horowitz M, Hrebícek M.
    Eur J Hum Genet; 2003 May 15; 11(5):369-74. PubMed ID: 12734541
    [Abstract] [Full Text] [Related]

  • 18. The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease.
    Orvisky E, Park JK, Parker A, Walker JM, Martin BM, Stubblefield BK, Uyama E, Tayebi N, Sidransky E.
    Hum Mutat; 2002 Apr 15; 19(4):458-9. PubMed ID: 11933202
    [Abstract] [Full Text] [Related]

  • 19. Role of pH in determining the cell-type-specific residual activity of glucocerebrosidase in type 1 Gaucher disease.
    van Weely S, van den Berg M, Barranger JA, Sa Miranda MC, Tager JM, Aerts JM.
    J Clin Invest; 1993 Mar 15; 91(3):1167-75. PubMed ID: 8450045
    [Abstract] [Full Text] [Related]

  • 20. Hydrophilic iminosugar active-site-specific chaperones increase residual glucocerebrosidase activity in fibroblasts from Gaucher patients.
    Chang HH, Asano N, Ishii S, Ichikawa Y, Fan JQ.
    FEBS J; 2006 Sep 15; 273(17):4082-92. PubMed ID: 16934036
    [Abstract] [Full Text] [Related]

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