BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

362 related articles for article (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
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 328(3):723-31. PubMed ID: 19106170
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 47 Suppl 1():S111-7. PubMed ID: 20040321
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 406(2):285-95. PubMed ID: 17555407
    [TBL] [Abstract][Full Text] [Related]  

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

  • 6. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 7. In vitro inhibition and intracellular enhancement of lysosomal alpha-galactosidase A activity in Fabry lymphoblasts by 1-deoxygalactonojirimycin and its derivatives.
    Asano N; Ishii S; Kizu H; Ikeda K; Yasuda K; Kato A; Martin OR; Fan JQ
    Eur J Biochem; 2000 Jul; 267(13):4179-86. PubMed ID: 10866822
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 360(2):375-80. PubMed ID: 17592721
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 1690(3):250-7. PubMed ID: 15511632
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Role of Ser-65 in the activity of alpha-galactosidase A: characterization of a point mutation (S65T) detected in a patient with Fabry disease.
    Ishii S; Suzuki Y; Fan JQ
    Arch Biochem Biophys; 2000 May; 377(2):228-33. PubMed ID: 10845698
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele.
    Yasuda M; Shabbeer J; Benson SD; Maire I; Burnett RM; Desnick RJ
    Hum Mutat; 2003 Dec; 22(6):486-92. PubMed ID: 14635108
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Fabry's disease (alpha-galactosidase-A deficiency): recent therapeutic innovations].
    Germain DP
    J Soc Biol; 2002; 196(2):183-90. PubMed ID: 12360747
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 32(3):424-40. PubMed ID: 19387866
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 98(5):2676-81. PubMed ID: 11226298
    [TBL] [Abstract][Full Text] [Related]  

  • 16. In vitro study of encapsulation therapy for Fabry disease using genetically engineered CHO cell line.
    Naganawa Y; Ohsugi K; Kase R; Date I; Sakuraba H; Sakuragawa N
    Cell Transplant; 2002; 11(4):325-9. PubMed ID: 12162373
    [TBL] [Abstract][Full Text] [Related]  

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

  • 18. Long-term enzyme correction and lipid reduction in multiple organs of primary and secondary transplanted Fabry mice receiving transduced bone marrow cells.
    Takenaka T; Murray GJ; Qin G; Quirk JM; Ohshima T; Qasba P; Clark K; Kulkarni AB; Brady RO; Medin JA
    Proc Natl Acad Sci U S A; 2000 Jun; 97(13):7515-20. PubMed ID: 10840053
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Enzymatic corrections for cells derived from Fabry disease patients by a recombinant adenovirus vector.
    Ohsugi K; Kobayashi K; Itoh K; Sakuraba H; Sakuragawa N
    J Hum Genet; 2000; 45(1):1-5. PubMed ID: 10697955
    [TBL] [Abstract][Full Text] [Related]  

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

    [Next]    [New Search]
    of 19.