Publications

Found 256 results
Filters: Keyword is DNA, Mitochondrial  [Clear All Filters]
2009
Fernandez-Vizarra E, Tiranti V & Zeviani M (2009) Assembly of the oxidative phosphorylation system in humans: what we have learned by studying its defects. Biochim Biophys Acta 1793, 200-11
Walker JE, Carroll J, Altman MC & Fearnley IM (2009) Chapter 6 Mass spectrometric characterization of the thirteen subunits of bovine respiratory complexes that are encoded in mitochondrial DNA. Methods Enzymol 456, 111-31
Mao C-C & Holt IJ (2009) Clinical and molecular aspects of diseases of mitochondrial DNA instability. Chang Gung Med J 32, 354-69
Spinazzola A, Invernizzi F, Carrara F, Lamantea E, Donati A, Dirocco M, Giordano I, Meznaric-Petrusa M, Baruffini E, Ferrero I & Zeviani M (2009) Clinical and molecular features of mitochondrial DNA depletion syndromes. J Inherit Metab Dis 32, 143-58
Poulton J, Hirano M, Spinazzola A, M Hernandez A, Jardel C, Lombès A, Czermin B, Horvath R, Taanman JW, Rotig A, Zeviani M & Fratter C (2009) Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1). Biochim Biophys Acta 1792, 1109-12
Iacovino M, Granycome C, Sembongi H, Bokori-Brown M, Butow RA, Holt IJ & Bateman JM (2009) The conserved translocase Tim17 prevents mitochondrial DNA loss. Hum Mol Genet 18, 65-74
Spinazzola A & Zeviani M (2009) Disorders from perturbations of nuclear-mitochondrial intergenomic cross-talk. J Intern Med 265, 174-92
Viscomi C, Spinazzola A, Maggioni M, Fernandez-Vizarra E, Massa V, Pagano C, Vettor R, Mora M & Zeviani M (2009) Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice. Hum Mol Genet 18, 12-26
Lamperti C & Zeviani M (2009) Encephalomyopathies caused by abnormal nuclear-mitochondrial intergenomic cross-talk. Acta Myol 28, 2-11
Hudson G, Yu-Wai-Man P, Zeviani M & Chinnery PF (2009) Genetic variation in the methylenetetrahydrofolate reductase gene, MTHFR, does not alter the risk of visual failure in Leber's hereditary optic neuropathy. Mol Vis 15, 870-5
Mineri R, Pavelka N, Fernandez-Vizarra E, Ricciardi-Castagnoli P, Zeviani M & Tiranti V (2009) How do human cells react to the absence of mitochondrial DNA?. PLoS One 4, e5713
Pohjoismäki JLO, Goffart S, Tyynismaa H, Willcox S, Ide T, Kang D, Suomalainen A, Karhunen PJ, Griffith JD, Holt IJ & Jacobs HT (2009) Human heart mitochondrial DNA is organized in complex catenated networks containing abundant four-way junctions and replication forks. J Biol Chem 284, 21446-57
Valente L, Piga D, Lamantea E, Carrara F, Uziel G, Cudia P, Zani A, Farina L, Morandi L, Mora M, Spinazzola A, Zeviani M & Tiranti V (2009) Identification of novel mutations in five patients with mitochondrial encephalomyopathy. Biochim Biophys Acta 1787, 491-501
Malena A, Loro E, Di Re M, Holt IJ & Vergani L (2009) Inhibition of mitochondrial fission favours mutant over wild-type mitochondrial DNA. Hum Mol Genet 18, 3407-16
Bailey LJ, Cluett TJ, Reyes A, Prolla TA, Poulton J, Leeuwenburgh C & Holt IJ (2009) Mice expressing an error-prone DNA polymerase in mitochondria display elevated replication pausing and chromosomal breakage at fragile sites of mitochondrial DNA. Nucleic Acids Res 37, 2327-35
Holt IJ (2009) Mitochondrial DNA replication and repair: all a flap. Trends Biochem Sci 34, 358-65
Cesaroni E, Scarpelli M, Zamponi N, Polonara G & Zeviani M (2009) Mitochondrial encephalomyopathy lactic acidosis and strokelike episodes mimicking occipital idiopathic epilepsy. Pediatr Neurol 41, 131-4
Valente L, Shigi N, Suzuki T & Zeviani M (2009) The R336Q mutation in human mitochondrial EFTu prevents the formation of an active mt-EFTu.GTP.aa-tRNA ternary complex. Biochim Biophys Acta 1792, 791-5
2008
Chinnery PF & Zeviani M (2008) 155th ENMC workshop: polymerase gamma and disorders of mitochondrial DNA synthesis, 21-23 September 2007, Naarden, The Netherlands. Neuromuscul Disord 18, 259-67
Ashley N, O'Rourke A, Smith C, Adams S, Gowda V, Zeviani M, Brown GK, Fratter C & Poulton J (2008) Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations. Hum Mol Genet 17, 2496-506
Minczuk M, Papworth MA, Miller JC, Murphy MP & Klug A (2008) Development of a single-chain, quasi-dimeric zinc-finger nuclease for the selective degradation of mutated human mitochondrial DNA. Nucleic Acids Res 36, 3926-38
Wiedmer A, Wang P, Zhou J, Rennekamp AJ, Tiranti V, Zeviani M & Lieberman PM (2008) Epstein-Barr virus immediate-early protein Zta co-opts mitochondrial single-stranded DNA binding protein to promote viral and inhibit mitochondrial DNA replication. J Virol 82, 4647-55
Amo T, Yadava N, Oh R, Nicholls DG & Brand MD (2008) Experimental assessment of bioenergetic differences caused by the common European mitochondrial DNA haplogroups H and T. Gene 411, 69-76
Tuppen HAL, Fattori F, Carrozzo R, Zeviani M, DiMauro S, Seneca S, Martindale JE, Olpin SE, Treacy EP, McFarland R, Santorelli FM & Taylor RW (2008) Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations. J Med Genet 45, 55-61
Spinazzola A, Santer R, Akman OH, Tsiakas K, Schaefer H, Ding X, Karadimas CL, Shanske S, Ganesh J, Di Mauro S & Zeviani M (2008) Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations. Arch Neurol 65, 1108-13

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