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343 related items for PubMed ID: 15629890

  • 1. A synthetic chaperone corrects the trafficking defect and disease phenotype in a protein misfolding disorder.
    Yam GH, Zuber C, Roth J.
    FASEB J; 2005 Jan; 19(1):12-8. PubMed ID: 15629890
    [Abstract] [Full Text] [Related]

  • 2. Pharmacological chaperone corrects lysosomal storage in Fabry disease caused by trafficking-incompetent variants.
    Yam GH, Bosshard N, Zuber C, Steinmann B, Roth J.
    Am J Physiol Cell Physiol; 2006 Apr; 290(4):C1076-82. PubMed ID: 16531566
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. Pharmacological chaperone therapy by active-site-specific chaperones in Fabry disease: in vitro and preclinical studies.
    Germain DP, Fan JQ.
    Int J Clin Pharmacol Ther; 2009 Aug 24; 47 Suppl 1():S111-7. PubMed ID: 20040321
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. Active-site-specific chaperone therapy for Fabry disease. Yin and Yang of enzyme inhibitors.
    Fan JQ, Ishii S.
    FEBS J; 2007 Oct 05; 274(19):4962-71. PubMed ID: 17894781
    [Abstract] [Full Text] [Related]

  • 7. 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 05; 5(1):112-5. PubMed ID: 9883849
    [Abstract] [Full Text] [Related]

  • 8. 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
    [Abstract] [Full Text] [Related]

  • 9. [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 01; 45(2):127-35. PubMed ID: 9120996
    [Abstract] [Full Text] [Related]

  • 10. Partial correction of the alpha-galactosidase A deficiency and reduction of glycolipid storage in Fabry mice using synthetic vectors.
    Przybylska M, Wu IH, Zhao H, Ziegler RJ, Tousignant JD, Desnick RJ, Scheule RK, Cheng SH, Yew NS.
    J Gene Med; 2004 Jan 01; 6(1):85-92. PubMed ID: 14716680
    [Abstract] [Full Text] [Related]

  • 11. Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease.
    Lukas J, Giese AK, Markoff A, Grittner U, Kolodny E, Mascher H, Lackner KJ, Meyer W, Wree P, Saviouk V, Rolfs A.
    PLoS Genet; 2013 Jan 01; 9(8):e1003632. PubMed ID: 23935525
    [Abstract] [Full Text] [Related]

  • 12. Preclinical efficacy and safety of 1-deoxygalactonojirimycin in mice for Fabry disease.
    Ishii S, Chang HH, Yoshioka H, Shimada T, Mannen K, Higuchi Y, Taguchi A, Fan JQ.
    J Pharmacol Exp Ther; 2009 Mar 01; 328(3):723-31. PubMed ID: 19106170
    [Abstract] [Full Text] [Related]

  • 13. 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 01; 35(3):513-20. PubMed ID: 22187137
    [Abstract] [Full Text] [Related]

  • 14. Increased globotriaosylceramide levels in a transgenic mouse expressing human alpha1,4-galactosyltransferase and a mouse model for treating Fabry disease.
    Shiozuka C, Taguchi A, Matsuda J, Noguchi Y, Kunieda T, Uchio-Yamada K, Yoshioka H, Hamanaka R, Yano S, Yokoyama S, Mannen K, Kulkarni AB, Furukawa K, Ishii S.
    J Biochem; 2011 Feb 01; 149(2):161-70. PubMed ID: 20961863
    [Abstract] [Full Text] [Related]

  • 15. α-Galactosidase aggregation is a determinant of pharmacological chaperone efficacy on Fabry disease mutants.
    Siekierska A, De Baets G, Reumers J, Gallardo R, Rudyak S, Broersen K, Couceiro J, Van Durme J, Schymkowitz J, Rousseau F.
    J Biol Chem; 2012 Aug 17; 287(34):28386-97. PubMed ID: 22773828
    [Abstract] [Full Text] [Related]

  • 16. The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines.
    Benjamin ER, Flanagan JJ, Schilling A, Chang HH, Agarwal L, Katz E, Wu X, Pine C, Wustman B, Desnick RJ, Lockhart DJ, Valenzano KJ.
    J Inherit Metab Dis; 2009 Jun 17; 32(3):424-40. PubMed ID: 19387866
    [Abstract] [Full Text] [Related]

  • 17. Pharmacological chaperone therapy for Fabry disease.
    Ishii S.
    Proc Jpn Acad Ser B Phys Biol Sci; 2012 Jun 17; 88(1):18-30. PubMed ID: 22241068
    [Abstract] [Full Text] [Related]

  • 18. [Fabry disease (alpha-galactosidase deficiency)].
    Okumiya T, Sakuraba H.
    Nihon Rinsho; 1995 Dec 17; 53(12):2952-9. PubMed ID: 8577042
    [Abstract] [Full Text] [Related]

  • 19. Glucosylceramide synthase inhibition with lucerastat lowers globotriaosylceramide and lysosome staining in cultured fibroblasts from Fabry patients with different mutation types.
    Welford RWD, Mühlemann A, Garzotti M, Rickert V, Groenen PMA, Morand O, Üçeyler N, Probst MR.
    Hum Mol Genet; 2018 Oct 01; 27(19):3392-3403. PubMed ID: 29982630
    [Abstract] [Full Text] [Related]

  • 20. Globotriaosylceramide induces lysosomal degradation of endothelial KCa3.1 in fabry disease.
    Choi S, Kim JA, Na HY, Cho SE, Park S, Jung SC, Suh SH.
    Arterioscler Thromb Vasc Biol; 2014 Jan 01; 34(1):81-9. PubMed ID: 24158513
    [Abstract] [Full Text] [Related]

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