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Journal Abstract Search

316 related items for PubMed ID: 19503089

  • 1. Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.
    Weraarpachai W, Antonicka H, Sasarman F, Seeger J, Schrank B, Kolesar JE, Lochmüller H, Chevrette M, Kaufman BA, Horvath R, Shoubridge EA.
    Nat Genet; 2009 Jul; 41(7):833-7. PubMed ID: 19503089
    [Abstract] [Full Text] [Related]

  • 2. Clinical and neuropathological findings in patients with TACO1 mutations.
    Seeger J, Schrank B, Pyle A, Stucka R, Lörcher U, Müller-Ziermann S, Abicht A, Czermin B, Holinski-Feder E, Lochmüller H, Horvath R.
    Neuromuscul Disord; 2010 Nov; 20(11):720-4. PubMed ID: 20727754
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  • 3. Murine cytomegalovirus infection exacerbates complex IV deficiency in a model of mitochondrial disease.
    Ferreira N, Andoniou CE, Perks KL, Ermer JA, Rudler DL, Rossetti G, Periyakaruppiah A, Wong JKY, Rackham O, Noakes PG, Degli-Esposti MA, Filipovska A.
    PLoS Genet; 2020 Mar; 16(3):e1008604. PubMed ID: 32130224
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  • 4. A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.
    Lim SC, Smith KR, Stroud DA, Compton AG, Tucker EJ, Dasvarma A, Gandolfo LC, Marum JE, McKenzie M, Peters HL, Mowat D, Procopis PG, Wilcken B, Christodoulou J, Brown GK, Ryan MT, Bahlo M, Thorburn DR.
    Am J Hum Genet; 2014 Feb 06; 94(2):209-22. PubMed ID: 24462369
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  • 5. Cytochrome c oxidase deficiency.
    Shoubridge EA.
    Am J Med Genet; 2001 Feb 06; 106(1):46-52. PubMed ID: 11579424
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  • 7. Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.
    Tiranti V, Hoertnagel K, Carrozzo R, Galimberti C, Munaro M, Granatiero M, Zelante L, Gasparini P, Marzella R, Rocchi M, Bayona-Bafaluy MP, Enriquez JA, Uziel G, Bertini E, Dionisi-Vici C, Franco B, Meitinger T, Zeviani M.
    Am J Hum Genet; 1998 Dec 06; 63(6):1609-21. PubMed ID: 9837813
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  • 8. A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome.
    Tiranti V, Corona P, Greco M, Taanman JW, Carrara F, Lamantea E, Nijtmans L, Uziel G, Zeviani M.
    Hum Mol Genet; 2000 Nov 01; 9(18):2733-42. PubMed ID: 11063732
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  • 10. Human cytochrome oxidase deficiency.
    Robinson BH.
    Pediatr Res; 2000 Nov 01; 48(5):581-5. PubMed ID: 11044474
    [Abstract] [Full Text] [Related]

  • 11. [Cytochrome c oxydase-deficient Leigh syndrome with homozygous mutation in SURF1 gene].
    Monnot S, Chabrol B, Cano A, Pellissier JF, Collignon P, Montfort MF, Paquis-Flucklinger V.
    Arch Pediatr; 2005 May 01; 12(5):568-71. PubMed ID: 15885549
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  • 16. PET117 assembly factor stabilizes translation activator TACO1 thereby upregulates mitochondria-encoded cytochrome C oxidase 1 synthesis.
    Sun Q, Shi L, Li S, Li J, Zhang R, Huang X, Shao Y, Feng Z, Peng Y, Yang Z, Liu J, Liu H, Long J.
    Free Radic Biol Med; 2023 Aug 20; 205():13-24. PubMed ID: 37247699
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  • 18. Pyruvate therapy for Leigh syndrome due to cytochrome c oxidase deficiency.
    Komaki H, Nishigaki Y, Fuku N, Hosoya H, Murayama K, Ohtake A, Goto Y, Wakamoto H, Koga Y, Tanaka M.
    Biochim Biophys Acta; 2010 Mar 20; 1800(3):313-5. PubMed ID: 19616603
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  • 20. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome.
    Zhu Z, Yao J, Johns T, Fu K, De Bie I, Macmillan C, Cuthbert AP, Newbold RF, Wang J, Chevrette M, Brown GK, Brown RM, Shoubridge EA.
    Nat Genet; 1998 Dec 20; 20(4):337-43. PubMed ID: 9843204
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