Publications

Found 228 results
Filters: Keyword is Mutation  [Clear All Filters]
2005
Bugiani M, Tiranti V, Farina L, Uziel G & Zeviani M (2005) Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency. J Med Genet 42, e28
Turner CJ, Granycome C, Hurst R, Pohler E, M Juhola K, Juhola MI, Jacobs HT, Sutherland L & Holt IJ (2005) Systematic segregation to mutant mitochondrial DNA and accompanying loss of mitochondrial DNA in human NT2 teratocarcinoma Cybrids. Genetics 170, 1879-85
Yasukawa T, Kirino Y, Ishii N, Holt IJ, Jacobs HT, Makifuchi T, Fukuhara N, Ohta S, Suzuki T & Watanabe K (2005) Wobble modification deficiency in mutant tRNAs in patients with mitochondrial diseases. FEBS Lett 579, 2948-52
2004
Bugiani M, Invernizzi F, Alberio S, Briem E, Lamantea E, Carrara F, Moroni I, Farina L, Spada M, Donati MA, Uziel G & Zeviani M (2004) Clinical and molecular findings in children with complex I deficiency. Biochim Biophys Acta 1659, 136-47
Loktionov A (2004) Common gene polymorphisms, cancer progression and prognosis. Cancer Lett 208, 1-33
Ghezzi A, Baldini S, Zaffaroni M, Leoni G, Koudriavtseva T, Casini AR & Zeviani M (2004) Devic's neuromyelitis optica and mitochondrial DNA mutation: a case report. Neurol Sci 25 Suppl 4, S380-2
Tiranti V, D'Adamo P, Briem E, Ferrari G, Mineri R, Lamantea E, Mandel H, Balestri P, Garcia-Silva M-T, Vollmer B, Rinaldo P, Hahn SHoun, Leonard J, Rahman S, Dionisi-Vici C, Garavaglia B, Gasparini P & Zeviani M (2004) Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. Am J Hum Genet 74, 239-52
Garavaglia B, Invernizzi F, Carbone MLAgostoni, Viscardi V, Saracino F, Ghezzi D, Zeviani M, Zorzi G & Nardocci N (2004) GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: identification and functional characterization of four novel mutations. J Inherit Metab Dis 27, 455-63
Miwa S, Riyahi K, Partridge L & Brand MD (2004) Lack of correlation between mitochondrial reactive oxygen species production and life span in Drosophila. Ann N Y Acad Sci 1019, 388-91
Zeviani M (2004) Mitochondrial disorders. Suppl Clin Neurophysiol 57, 304-12
Zeviani M & Di Donato S (2004) Mitochondrial disorders. Brain 127, 2153-72
Fetoni V, Briem E, Carrara F, Mora M & Zeviani M (2004) Monomelic amyotrophy associated with the 7472insC mutation in the mtDNA tRNASer(UCN) gene. Neuromuscul Disord 14, 723-6
Fontanesi F, Palmieri L, Scarcia P, Lodi T, Donnini C, Limongelli A, Tiranti V, Zeviani M, Ferrero I & Viola AMaria (2004) Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability. Hum Mol Genet 13, 923-34
Trifunovic A, Wredenberg A, Falkenberg M, Spelbrink JN, Rovio AT, Bruder CE, Bohlooly-Y M, Gidlöf S, Oldfors A, Wibom R, Törnell J, Jacobs HT & Larsson N-G (2004) Premature ageing in mice expressing defective mitochondrial DNA polymerase. Nature 429, 417-23
Chinnery PF, DiMauro S, Shanske S, Schon EA, Zeviani M, Mariotti C, Carrara F, Lombes A, Laforet P, Ogier H, Jaksch M, Lochmüller H, Horvath R, Deschauer M, Thorburn DR, Bindoff LA, Poulton J, Taylor RW, Matthews JNS & Turnbull DM (2004) Risk of developing a mitochondrial DNA deletion disorder. Lancet 364, 592-6
Graziewicz MA, Longley MJ, Bienstock RJ, Zeviani M & Copeland WC (2004) Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia. Nat Struct Mol Biol 11, 770-6
Esteves TC, Echtay KS, Jonassen T, Clarke CF & Brand MD (2004) Ubiquinone is not required for proton conductance by uncoupling protein 1 in yeast mitochondria. Biochem J 379, 309-15
2003
Taylor RW, McDonnell MT, Blakely EL, Chinnery PF, Taylor GA, Howell N, Zeviani M, Briem E, Carrara F & Turnbull DM (2003) Genotypes from patients indicate no paternal mitochondrial DNA contribution. Ann Neurol 54, 521-4
Zeviani M & Spinazzola A (2003) Mitochondrial disorders. Curr Neurol Neurosci Rep 3, 423-32
Zeviani M & Carelli V (2003) Mitochondrial disorders. Curr Opin Neurol 16, 585-94
Fiermonte G, Dolce V, David L, Santorelli FMaria, Dionisi-Vici C, Palmieri F & Walker JE (2003) The mitochondrial ornithine transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms. J Biol Chem 278, 32778-83
Saretzki G, Murphy MP & von Zglinicki T (2003) MitoQ counteracts telomere shortening and elongates lifespan of fibroblasts under mild oxidative stress. Aging Cell 2, 141-3
Whitworth AJ & Russell S (2003) Temporally dynamic response to Wingless directs the sequential elaboration of the proximodistal axis of the Drosophila wing. Dev Biol 254, 277-88
2002
Chinnery PF, Samuels DC, Elson J & Turnbull DM (2002) Accumulation of mitochondrial DNA mutations in ageing, cancer, and mitochondrial disease: is there a common mechanism?. Lancet 360, 1323-5
Spinazzola A, Martí R, Nishino I, Andreu AL, Naini A, Tadesse S, Pela I, Zammarchi E, M Donati A, Oliver JA & Hirano M (2002) Altered thymidine metabolism due to defects of thymidine phosphorylase. J Biol Chem 277, 4128-33

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