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Journal Abstract Search

362 related items for PubMed ID: 9883849

  • 1. Accelerated transport and maturation of lysosomal alpha-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor.
    Fan JQ, Ishii S, Asano N, Suzuki Y.
    Nat Med; 1999 Jan; 5(1):112-5. PubMed ID: 9883849
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  • 4. Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin.
    Ishii S, Chang HH, Kawasaki K, Yasuda K, Wu HL, Garman SC, Fan JQ.
    Biochem J; 2007 Sep 01; 406(2):285-95. PubMed ID: 17555407
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  • 8. 4-Phenylbutyrate rescues trafficking incompetent mutant alpha-galactosidase A without restoring its functionality.
    Yam GH, Roth J, Zuber C.
    Biochem Biophys Res Commun; 2007 Aug 24; 360(2):375-80. PubMed ID: 17592721
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  • 9. Transgenic mouse expressing human mutant alpha-galactosidase A in an endogenous enzyme deficient background: a biochemical animal model for studying active-site specific chaperone therapy for Fabry disease.
    Ishii S, Yoshioka H, Mannen K, Kulkarni AB, Fan JQ.
    Biochim Biophys Acta; 2004 Nov 05; 1690(3):250-7. PubMed ID: 15511632
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  • 15. Adeno-associated viral vector-mediated gene transfer results in long-term enzymatic and functional correction in multiple organs of Fabry mice.
    Jung SC, Han IP, Limaye A, Xu R, Gelderman MP, Zerfas P, Tirumalai K, Murray GJ, During MJ, Brady RO, Qasba P.
    Proc Natl Acad Sci U S A; 2001 Feb 27; 98(5):2676-81. PubMed ID: 11226298
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  • 17. [alpha-Galactosidase gene mutation and its expression product in Fabry disease (alpha-galactosidase deficiency)].
    Okumiya T, Takata T, Sasaki M, Sakuraba H.
    Rinsho Byori; 1997 Feb 27; 45(2):127-35. PubMed ID: 9120996
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  • 20. Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and the human recombinant alpha-galactosidase A in cultured fibroblasts from patients with Fabry disease.
    Porto C, Pisani A, Rosa M, Acampora E, Avolio V, Tuzzi MR, Visciano B, Gagliardo C, Materazzi S, la Marca G, Andria G, Parenti G.
    J Inherit Metab Dis; 2012 May 27; 35(3):513-20. PubMed ID: 22187137
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