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Journal Abstract Search

225 related items for PubMed ID: 15466014

  • 1. Mutations of the mitochondrial ND1 gene as a cause of MELAS.
    Kirby DM, McFarland R, Ohtake A, Dunning C, Ryan MT, Wilson C, Ketteridge D, Turnbull DM, Thorburn DR, Taylor RW.
    J Med Genet; 2004 Oct; 41(10):784-9. PubMed ID: 15466014
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  • 2. The role of complex I genes in MELAS: a novel heteroplasmic mutation 3380G>A in ND1 of mtDNA.
    Horváth R, Reilmann R, Holinski-Feder E, Ringelstein EB, Klopstock T.
    Neuromuscul Disord; 2008 Jul; 18(7):553-6. PubMed ID: 18590963
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  • 5. Secondary coenzyme Q10 deficiency triggers mitochondria degradation by mitophagy in MELAS fibroblasts.
    Cotán D, Cordero MD, Garrido-Maraver J, Oropesa-Ávila M, Rodríguez-Hernández A, Gómez Izquierdo L, De la Mata M, De Miguel M, Lorite JB, Infante ER, Jackson S, Navas P, Sánchez-Alcázar JA.
    FASEB J; 2011 Aug; 25(8):2669-87. PubMed ID: 21551238
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  • 10. Effect of rapamycin on mitochondria and lysosomes in fibroblasts from patients with mtDNA mutations.
    Cheema NJ, Cameron JM, Hood DA.
    Am J Physiol Cell Physiol; 2021 Jul 01; 321(1):C176-C186. PubMed ID: 34106788
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  • 11. 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 01; 40(3):188-91. PubMed ID: 12624137
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  • 12. The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases.
    Shanske S, Coku J, Lu J, Ganesh J, Krishna S, Tanji K, Bonilla E, Naini AB, Hirano M, DiMauro S.
    Arch Neurol; 2008 Mar 01; 65(3):368-72. PubMed ID: 18332249
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  • 13. The addition of ketone bodies alleviates mitochondrial dysfunction by restoring complex I assembly in a MELAS cellular model.
    Frey S, Geffroy G, Desquiret-Dumas V, Gueguen N, Bris C, Belal S, Amati-Bonneau P, Chevrollier A, Barth M, Henrion D, Lenaers G, Bonneau D, Reynier P, Procaccio V.
    Biochim Biophys Acta Mol Basis Dis; 2017 Jan 01; 1863(1):284-291. PubMed ID: 27815040
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  • 14. Mutations in mitochondrially encoded complex I enzyme as the second common cause in a cohort of Chinese patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes.
    Zhao D, Hong D, Zhang W, Yao S, Qi X, Lv H, Zheng R, Feng L, Huang Y, Yuan Y, Wang Z.
    J Hum Genet; 2011 Nov 01; 56(11):759-64. PubMed ID: 21850008
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  • 16. Nonsense mutations in mitochondrial DNA associated with myalgia and exercise intolerance.
    Pulkes T, Liolitsa D, Wills AJ, Hargreaves I, Heales S, Hanna MG.
    Neurology; 2005 Mar 22; 64(6):1091-2. PubMed ID: 15781840
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  • 18. A novel combination of mitochondrial tRNA and ND1 gene mutations in a syndrome with MELAS, cardiomyopathy, and diabetes mellitus.
    Jaksch M, Hofmann S, Kaufhold P, Obermaier-Kusser B, Zierz S, Gerbitz KD.
    Hum Mutat; 1996 Mar 22; 7(4):358-60. PubMed ID: 8723687
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  • 19. RNA-seq profiling, and impaired autophagic process in skeletal muscle of MELAS.
    Deng J, Lu Y, Xie Z, Liu J, Yuan Y, Wang Z.
    Biochem Biophys Res Commun; 2020 Feb 26; 523(1):91-97. PubMed ID: 31836143
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  • 20. A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia.
    Spruijt L, Smeets HJ, Hendrickx A, Bettink-Remeijer MW, Maat-Kievit A, Schoonderwoerd KC, Sluiter W, de Coo IF, Hintzen RQ.
    Arch Neurol; 2007 Jun 26; 64(6):890-3. PubMed ID: 17562939
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