BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

236 related articles for article (PubMed ID: 20961863)

  • 1. 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; 149(2):161-70. PubMed ID: 20961863
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Therapeutic Strategy for Fabry Disease by Intravenous Administration of Adeno-Associated Virus 9 in a Symptomatic Mouse Model.
    Hayashi Y; Sehara Y; Watano R; Ohba K; Takayanagi Y; Sakiyama Y; Muramatsu K; Mizukami H
    Hum Gene Ther; 2024 Mar; 35(5-6):192-201. PubMed ID: 38386497
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A symptomatic Fabry disease mouse model generated by inducing globotriaosylceramide synthesis.
    Taguchi A; Maruyama H; Nameta M; Yamamoto T; Matsuda J; Kulkarni AB; Yoshioka H; Ishii S
    Biochem J; 2013 Dec; 456(3):373-83. PubMed ID: 24094090
    [TBL] [Abstract][Full Text] [Related]  

  • 5. The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease.
    Khanna R; Soska R; Lun Y; Feng J; Frascella M; Young B; Brignol N; Pellegrino L; Sitaraman SA; Desnick RJ; Benjamin ER; Lockhart DJ; Valenzano KJ
    Mol Ther; 2010 Jan; 18(1):23-33. PubMed ID: 19773742
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients.
    Young-Gqamana B; Brignol N; Chang HH; Khanna R; Soska R; Fuller M; Sitaraman SA; Germain DP; Giugliani R; Hughes DA; Mehta A; Nicholls K; Boudes P; Lockhart DJ; Valenzano KJ; Benjamin ER
    PLoS One; 2013; 8(3):e57631. PubMed ID: 23472096
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Enzyme replacement therapy partially prevents invariant Natural Killer T cell deficiency in the Fabry disease mouse model.
    Macedo MF; Quinta R; Pereira CS; Sa Miranda MC
    Mol Genet Metab; 2012 May; 106(1):83-91. PubMed ID: 22425450
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Distributions of Globotriaosylceramide Isoforms, and Globotriaosylsphingosine and Its Analogues in an α-Galactosidase A Knockout Mouse, a Model of Fabry Disease.
    Sueoka H; Aoki M; Tsukimura T; Togawa T; Sakuraba H
    PLoS One; 2015; 10(12):e0144958. PubMed ID: 26661087
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Molecular basis of 1-deoxygalactonojirimycin arylthiourea binding to human α-galactosidase a: pharmacological chaperoning efficacy on Fabry disease mutants.
    Yu Y; Mena-Barragán T; Higaki K; Johnson JL; Drury JE; Lieberman RL; Nakasone N; Ninomiya H; Tsukimura T; Sakuraba H; Suzuki Y; Nanba E; Mellet CO; García Fernández JM; Ohno K
    ACS Chem Biol; 2014 Jul; 9(7):1460-9. PubMed ID: 24783948
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Naked plasmid DNA-based alpha-galactosidase A gene transfer partially reduces systemic accumulation of globotriaosylceramide in Fabry mice.
    Nakamura G; Maruyama H; Ishii S; Shimotori M; Kameda S; Kono T; Miyazaki J; Kulkarni AB; Gejyo F
    Mol Biotechnol; 2008 Feb; 38(2):109-19. PubMed ID: 18219591
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Characterization of Fabry mice treated with recombinant adeno-associated virus 2/8-mediated gene transfer.
    Choi JO; Lee MH; Park HY; Jung SC
    J Biomed Sci; 2010 Apr; 17(1):26. PubMed ID: 20398385
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Chaperone Therapy in Fabry Disease.
    Weidemann F; Jovanovic A; Herrmann K; Vardarli I
    Int J Mol Sci; 2022 Feb; 23(3):. PubMed ID: 35163813
    [TBL] [Abstract][Full Text] [Related]  

  • 15. An in vitro model of Fabry disease.
    Shu L; Murphy HS; Cooling L; Shayman JA
    J Am Soc Nephrol; 2005 Sep; 16(9):2636-45. PubMed ID: 16033856
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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; 27(19):3392-3403. PubMed ID: 29982630
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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; 34(1):81-9. PubMed ID: 24158513
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Long-term inhibition of glycosphingolipid accumulation in Fabry model mice by a single systemic injection of AAV1 vector in the neonatal period.
    Ogawa K; Hirai Y; Ishizaki M; Takahashi H; Hanawa H; Fukunaga Y; Shimada T
    Mol Genet Metab; 2009 Mar; 96(3):91-6. PubMed ID: 19091614
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.