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125 related items for PubMed ID: 11286378

  • 1. Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chain.
    Wittig I, Augstein P, Brown GK, Fujii T, Rötig A, Rustin P, Munnich A, Seibel P, Thorburn D, Wissinger B, Tamboom K, Metspalu A, Lamantea E, Zeviani M, Wehnert MS.
    J Inherit Metab Dis; 2001 Feb; 24(1):15-27. PubMed ID: 11286378
    [Abstract] [Full Text] [Related]

  • 2. Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency.
    Bénit P, Chretien D, Kadhom N, de Lonlay-Debeney P, Cormier-Daire V, Cabral A, Peudenier S, Rustin P, Munnich A, Rötig A.
    Am J Hum Genet; 2001 Jun; 68(6):1344-52. PubMed ID: 11349233
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  • 4. The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.
    Chol M, Lebon S, Bénit P, Chretien D, de Lonlay P, Goldenberg A, Odent S, Hertz-Pannier L, Vincent-Delorme C, Cormier-Daire V, Rustin P, Rötig A, Munnich A.
    J Med Genet; 2003 Mar; 40(3):188-91. PubMed ID: 12624137
    [Abstract] [Full Text] [Related]

  • 5. Analysis of mitochondrial ND4 gene DNA sequence in Finnish families with Leber hereditary optic neuroretinopathy.
    Huoponen K, Vilkki J, Savontaus ML, Aula P, Nikoskelainen EK.
    Genomics; 1990 Nov; 8(3):583-5. PubMed ID: 2286378
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  • 6. Mutation analysis of the ND6 gene in patients with Lebers hereditary optic neuropathy.
    Wissinger B, Besch D, Baumann B, Fauser S, Christ-Adler M, Jurklies B, Zrenner E, Leo-Kottler B.
    Biochem Biophys Res Commun; 1997 May 19; 234(2):511-5. PubMed ID: 9177303
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  • 7. The first nuclear-encoded complex I mutation in a patient with Leigh syndrome.
    Loeffen J, Smeitink J, Triepels R, Smeets R, Schuelke M, Sengers R, Trijbels F, Hamel B, Mullaart R, van den Heuvel L.
    Am J Hum Genet; 1998 Dec 19; 63(6):1598-608. PubMed ID: 9837812
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  • 8. Functional consequences of the 3460-bp mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.
    Cock HR, Cooper JM, Schapira AH.
    J Neurol Sci; 1999 May 01; 165(1):10-7. PubMed ID: 10426140
    [Abstract] [Full Text] [Related]

  • 9. A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome.
    Petruzzella V, Vergari R, Puzziferri I, Boffoli D, Lamantea E, Zeviani M, Papa S.
    Hum Mol Genet; 2001 Mar 01; 10(5):529-35. PubMed ID: 11181577
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  • 10. Mutations in human nuclear genes encoding for subunits of mitochondrial respiratory complex I: the NDUFS4 gene.
    Petruzzella V, Papa S.
    Gene; 2002 Mar 06; 286(1):149-54. PubMed ID: 11943471
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  • 12. Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families.
    Kirby DM, Kahler SG, Freckmann ML, Reddihough D, Thorburn DR.
    Ann Neurol; 2000 Jul 06; 48(1):102-4. PubMed ID: 10894222
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  • 13. An X-chromosome linked mouse model (Ndufa1S55A) for systemic partial Complex I deficiency for studying predisposition to neurodegeneration and other diseases.
    Kim C, Potluri P, Khalil A, Gaut D, McManus M, Compton S, Wallace DC, Yadava N.
    Neurochem Int; 2017 Oct 06; 109():78-93. PubMed ID: 28506826
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  • 15. Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome.
    Bénit P, Steffann J, Lebon S, Chretien D, Kadhom N, de Lonlay P, Goldenberg A, Dumez Y, Dommergues M, Rustin P, Munnich A, Rötig A.
    Hum Genet; 2003 May 06; 112(5-6):563-6. PubMed ID: 12616398
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  • 16. X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.
    Fernandez-Moreira D, Ugalde C, Smeets R, Rodenburg RJ, Lopez-Laso E, Ruiz-Falco ML, Briones P, Martin MA, Smeitink JA, Arenas J.
    Ann Neurol; 2007 Jan 06; 61(1):73-83. PubMed ID: 17262856
    [Abstract] [Full Text] [Related]

  • 17. The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy.
    Huoponen K, Lamminen T, Juvonen V, Aula P, Nikoskelainen E, Savontaus ML.
    Hum Genet; 1993 Oct 06; 92(4):379-84. PubMed ID: 7901141
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  • 18. Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome.
    Bénit P, Slama A, Cartault F, Giurgea I, Chretien D, Lebon S, Marsac C, Munnich A, Rötig A, Rustin P.
    J Med Genet; 2004 Jan 06; 41(1):14-7. PubMed ID: 14729820
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  • 19. Electron transfer properties of NADH:ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON).
    Majander A, Huoponen K, Savontaus ML, Nikoskelainen E, Wikström M.
    FEBS Lett; 1991 Nov 04; 292(1-2):289-92. PubMed ID: 1959619
    [Abstract] [Full Text] [Related]

  • 20. The nuoM arg368his mutation in NADH:ubiquinone oxidoreductase from Rhodobacter capsulatus: a model for the human nd4-11778 mtDNA mutation associated with Leber's hereditary optic neuropathy.
    Lunardi J, Darrouzet E, Dupuis A, Issartel JP.
    Biochim Biophys Acta; 1998 Aug 14; 1407(2):114-24. PubMed ID: 9685604
    [Abstract] [Full Text] [Related]

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