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Journal Abstract Search

225 related items for PubMed ID: 14613972

  • 1. ND5 is a hot-spot for multiple atypical mitochondrial DNA deletions in mitochondrial neurogastrointestinal encephalomyopathy.
    Nishigaki Y, Marti R, Hirano M.
    Hum Mol Genet; 2004 Jan 01; 13(1):91-101. PubMed ID: 14613972
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  • 2. Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency.
    Nishigaki Y, Martí R, Copeland WC, Hirano M.
    J Clin Invest; 2003 Jun 01; 111(12):1913-21. PubMed ID: 12813027
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  • 5. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.
    Nishino I, Spinazzola A, Hirano M.
    Science; 1999 Jan 29; 283(5402):689-92. PubMed ID: 9924029
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  • 16. Gene therapy using a liver-targeted AAV vector restores nucleoside and nucleotide homeostasis in a murine model of MNGIE.
    Torres-Torronteras J, Viscomi C, Cabrera-Pérez R, Cámara Y, Di Meo I, Barquinero J, Auricchio A, Pizzorno G, Hirano M, Zeviani M, Martí R.
    Mol Ther; 2014 May 29; 22(5):901-7. PubMed ID: 24448160
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  • 17. Deoxyribonucleotide pool imbalance stimulates deletions in HeLa cell mitochondrial DNA.
    Song S, Wheeler LJ, Mathews CK.
    J Biol Chem; 2003 Nov 07; 278(45):43893-6. PubMed ID: 13679382
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  • 19. Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
    Valentino ML, Martí R, Tadesse S, López LC, Manes JL, Lyzak J, Hahn A, Carelli V, Hirano M.
    FEBS Lett; 2007 Jul 24; 581(18):3410-4. PubMed ID: 17612528
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