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Journal Abstract Search

167 related items for PubMed ID: 11245730

  • 1. The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome.
    Carrozzo R, Tessa A, Vázquez-Memije ME, Piemonte F, Patrono C, Malandrini A, Dionisi-Vici C, Vilarinho L, Villanova M, Schägger H, Federico A, Bertini E, Santorelli FM.
    Neurology; 2001 Mar 13; 56(5):687-90. PubMed ID: 11245730
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  • 2. A mitochondrial ATPase 6 mutation is associated with Leigh syndrome in a family and affects proton flow and adenosine triphosphate output when modeled in Escherichia coli.
    Carrozzo R, Rizza T, Lucioli S, Pierini R, Bertini E, Santorelli FM.
    Acta Paediatr Suppl; 2004 May 13; 93(445):65-7. PubMed ID: 15176724
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  • 3. A novel mtDNA mutation in the ATPase6 gene studied by E. coli modeling.
    Carrozzo R, Murray J, Capuano O, Tessa A, Chichierchia G, Neglia MR, Capaldi RA, Santorelli FM.
    Neurol Sci; 2000 May 13; 21(5 Suppl):S983-4. PubMed ID: 11382202
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  • 4. Inefficient coupling between proton transport and ATP synthesis may be the pathogenic mechanism for NARP and Leigh syndrome resulting from the T8993G mutation in mtDNA.
    Sgarbi G, Baracca A, Lenaz G, Valentino LM, Carelli V, Solaini G.
    Biochem J; 2006 May 01; 395(3):493-500. PubMed ID: 16402916
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  • 5. Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation.
    Santorelli FM, Mak SC, Vazquez-Memije ME, Shanske S, Kranz-Eble P, Jain KD, Bluestone DL, De Vivo DC, DiMauro S.
    Pediatr Res; 1996 May 01; 39(5):914-7. PubMed ID: 8726250
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  • 6. Introducing the human Leigh syndrome mutation T9176G into Saccharomyces cerevisiae mitochondrial DNA leads to severe defects in the incorporation of Atp6p into the ATP synthase and in the mitochondrial morphology.
    Kucharczyk R, Salin B, di Rago JP.
    Hum Mol Genet; 2009 Aug 01; 18(15):2889-98. PubMed ID: 19454486
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  • 7. Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA.
    Campos Y, Martín MA, Rubio JC, Solana LG, García-Benayas C, Terradas JL, Arenas J.
    Neurology; 1997 Aug 01; 49(2):595-7. PubMed ID: 9270604
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  • 8. The 8993 mtDNA mutation: heteroplasmy and clinical presentation in three families.
    Tatuch Y, Pagon RA, Vlcek B, Roberts R, Korson M, Robinson BH.
    Eur J Hum Genet; 1994 Aug 01; 2(1):35-43. PubMed ID: 8044652
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  • 9. Leigh syndrome associated with mitochondrial DNA 8993 T-->G mutation and ragged-red fibers.
    Mak SC, Chi CS, Liu CY, Pang CY, Wei YH.
    Pediatr Neurol; 1996 Jul 01; 15(1):72-5. PubMed ID: 8858707
    [Abstract] [Full Text] [Related]

  • 10. Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high.
    Tatuch Y, Christodoulou J, Feigenbaum A, Clarke JT, Wherret J, Smith C, Rudd N, Petrova-Benedict R, Robinson BH.
    Am J Hum Genet; 1992 Apr 01; 50(4):852-8. PubMed ID: 1550128
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  • 11. Leigh disease associated with a novel mitochondrial DNA ND5 mutation.
    Taylor RW, Morris AA, Hutchinson M, Turnbull DM.
    Eur J Hum Genet; 2002 Feb 01; 10(2):141-4. PubMed ID: 11938446
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  • 17. Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA.
    Castagna AE, Addis J, McInnes RR, Clarke JT, Ashby P, Blaser S, Robinson BH.
    Am J Med Genet A; 2007 Apr 15; 143A(8):808-16. PubMed ID: 17352390
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  • 18. Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation.
    Ronchi D, Bordoni A, Cosi A, Rizzuti M, Fassone E, Di Fonzo A, Servida M, Sciacco M, Collotta M, Ronzoni M, Lucchini V, Mattioli M, Moggio M, Bresolin N, Corti S, Comi GP.
    Biochem Biophys Res Commun; 2011 Aug 26; 412(2):245-8. PubMed ID: 21819970
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