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Journal Abstract Search

272 related items for PubMed ID: 1829642

  • 1. Clinical phenotype of Gaucher disease in relation to properties of mutant glucocerebrosidase in cultured fibroblasts.
    Van Weely S, Van Leeuwen MB, Jansen ID, De Bruijn MA, Brouwer-Kelder EM, Schram AW, Sa Miranda MC, Barranger JA, Petersen EM, Goldblatt J.
    Biochim Biophys Acta; 1991 Jun 05; 1096(4):301-11. PubMed ID: 1829642
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  • 2. Analysis of glucocerebrosidase activity using N-(1-[14C]hexanoyl)-D-erythroglucosylsphingosine demonstrates a correlation between levels of residual enzyme activity and the type of Gaucher disease.
    Meivar-Levy I, Horowitz M, Futerman AH.
    Biochem J; 1994 Oct 15; 303 ( Pt 2)(Pt 2):377-82. PubMed ID: 7980395
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  • 4. 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
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  • 6. Gaucher disease: the effects of phosphatidylserine on glucocerebrosidase from normal and Gaucher fibroblasts.
    Choy FY.
    Hum Genet; 1984 Mar 15; 67(4):432-6. PubMed ID: 6436168
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  • 7. 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
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  • 8. Characterization of glucocerebrosidase in Greek Gaucher disease patients: mutation analysis and biochemical studies.
    Michelakakis H, Dimitriou E, Van Weely S, Boot RG, Mavridou I, Verhoek M, Aerts JM.
    J Inherit Metab Dis; 1995 Sep 15; 18(5):609-15. PubMed ID: 8598642
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  • 10. Selective chaperone effect of aminocyclitol derivatives on G202R and other mutant glucocerebrosidases causing Gaucher disease.
    Serra-Vinardell J, Díaz L, Gutiérrez-de Terán H, Sánchez-Ollé G, Bujons J, Michelakakis H, Mavridou I, Aerts JM, Delgado A, Grinberg D, Vilageliu L, Casas J.
    Int J Biochem Cell Biol; 2014 Sep 15; 54():245-54. PubMed ID: 25084554
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  • 11. Function of oligosaccharide modification in glucocerebrosidase, a membrane-associated lysosomal hydrolase.
    Van Weely S, Aerts JM, Van Leeuwen MB, Heikoop JC, Donker-Koopman WE, Barranger JA, Tager JM, Schram AW.
    Eur J Biochem; 1990 Aug 17; 191(3):669-77. PubMed ID: 2143986
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  • 14. Conditions affecting the activity of glucocerebrosidase purified from spleens of control subjects and patients with type 1 Gaucher disease.
    Aerts JM, Sa Miranda MC, Brouwer-Kelder EM, Van Weely S, Barranger JA, Tager JM.
    Biochim Biophys Acta; 1990 Oct 18; 1041(1):55-63. PubMed ID: 2223847
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  • 15. Gaucher disease: comparative study of acid phosphatase and glucocerebrosidase in normal and type-1 Gaucher tissues.
    Choy FY.
    Am J Med Genet; 1985 Jul 18; 21(3):519-28. PubMed ID: 4025386
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  • 16. ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity.
    Ron I, Horowitz M.
    Hum Mol Genet; 2005 Aug 15; 14(16):2387-98. PubMed ID: 16000318
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  • 17. Retrovirus-mediated transfer of the human glucocerebrosidase gene to Gaucher fibroblasts.
    Choudary PV, Barranger JA, Tsuji S, Mayor J, LaMarca ME, Cepko CL, Mulligan RC, Ginns EI.
    Mol Biol Med; 1986 Jun 15; 3(3):293-9. PubMed ID: 3736391
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  • 18. Electrophoresis of glucocerebrosidase from normal and Gaucher disease fibroblasts.
    Dale GL, Gudas J, Woloszyn W, Beutler E.
    Am J Hum Genet; 1979 Jul 15; 31(4):518-21. PubMed ID: 484554
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  • 19. Identification of miRNAs that modulate glucocerebrosidase activity in Gaucher disease cells.
    Siebert M, Westbroek W, Chen YC, Moaven N, Li Y, Velayati A, Saraiva-Pereira ML, Martin SE, Sidransky E.
    RNA Biol; 2014 Jul 15; 11(10):1291-300. PubMed ID: 25584808
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  • 20. Presence of activator proteins for the enzymatic degradation of glucosylceramide in several human tissues.
    Vaccaro AM, Ciaffoni F, Mandara I, Suzuki K.
    Clin Chim Acta; 1988 Mar 15; 172(2-3):323-34. PubMed ID: 3370844
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