Publications

Found 221 results
Filters: Keyword is Mutation  [Clear All Filters]
2004
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 & Di Donato S (2004) Mitochondrial disorders. Brain 127, 2153-72
Zeviani M (2004) Mitochondrial disorders. Suppl Clin Neurophysiol 57, 304-12
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
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 & Carelli V (2003) Mitochondrial disorders. Curr Opin Neurol 16, 585-94
Zeviani M & Spinazzola A (2003) Mitochondrial disorders. Curr Neurol Neurosci Rep 3, 423-32
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
Zorzi G, Garavaglia B, Invernizzi F, Girotti F, Soliveri P, Zeviani M, Angelini L & Nardocci N (2002) Frequency of DYT1 mutation in early onset primary dystonia in Italian patients. Mov Disord 17, 407-8
James AM & Murphy MP (2002) How mitochondrial damage affects cell function. J Biomed Sci 9, 475-87
Minczuk M, Piwowarski J, Papworth MA, Awiszus K, Schalinski S, Dziembowski A, Dmochowska A, Bartnik E, Tokatlidis K, Stepien PP & Borowski P (2002) Localisation of the human hSuv3p helicase in the mitochondrial matrix and its preferential unwinding of dsDNA. Nucleic Acids Res 30, 5074-86
Farina L, Chiapparini L, Uziel G, Bugiani M, Zeviani M & Savoiardo M (2002) MR findings in Leigh syndrome with COX deficiency and SURF-1 mutations. AJNR Am J Neuroradiol 23, 1095-100
Savoiardo M, Zeviani M, Uziel G & Farina L (2002) MRI in Leigh syndrome with SURF1 gene mutation. Ann Neurol 51, 138-9
Dobson-Stone C, Danek A, Rampoldi L, Hardie RJ, Chalmers RM, Wood NW, Bohlega S, Dotti MT, Federico A, Shizuka M, Tanaka M, Watanabe M, Ikeda Y, Brin M, Goldfarb LG, Karp BI, Mohiddin S, Fananapazir L, Storch A, Fryer AE, Maddison P, Sibon I, Trevisol-Bittencourt PC, Singer C, Caballero IR, Aasly JO, Schmierer K, Dengler R, Hiersemenzel L-P, Zeviani M, Meiner V, Lossos A, Johnson S, Mercado FC, Sorrentino G, Dupré N, Rouleau GA, Volkmann J, Arpa J, Lees A, Geraud G, Chouinard S, Németh A & Monaco AP (2002) Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis. Eur J Hum Genet 10, 773-81
2001
Zeviani M (2001) The expanding spectrum of nuclear gene mutations in mitochondrial disorders. Semin Cell Dev Biol 12, 407-16

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