Found 263 results
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Wang L, Limongelli A, Vila MR, Carrara F, Zeviani M & Eriksson S (2005) Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes. Mol Genet Metab 84, 75-82
Yasukawa T (2005) [Overview of mammalian mitochondrial DNA replication and transcription]. Tanpakushitsu Kakusan Koso 50, 1727-31
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
Mangiafico RA, Zeviani M, Bartoloni G & Fiore CE (2004) Accelerated cardiomyopathy in maternally inherited diabetes and deafness. Int J Clin Pharmacol Res 24, 15-21
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
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
Zeviani M & Di Donato S (2004) Mitochondrial disorders. Brain 127, 2153-72
Zeviani M (2004) Mitochondrial disorders. Suppl Clin Neurophysiol 57, 304-12
Chen K, Thomas SR, Albano A, Murphy MP & Keaney JF (2004) Mitochondrial function is required for hydrogen peroxide-induced growth factor receptor transactivation and downstream signaling. J Biol Chem 279, 35079-86
Spinazzola A, Carrara F, Mora M & Zeviani M (2004) Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the 5698G-->A mitochondrial DNA mutation. Neuromuscul Disord 14, 815-7
Achilli A, Rengo C, Magri C, Battaglia V, Olivieri A, Scozzari R, Cruciani F, Zeviani M, Briem E, Carelli V, Moral P, Dugoujon J-M, Roostalu U, Loogväli E-L, Kivisild T, Bandelt H-J, Richards M, Villems R, A Santachiara-Benerecetti S, Semino O & Torroni A (2004) The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool. Am J Hum Genet 75, 910-8
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
Chen R, Fearnley IM, Peak-Chew SY & Walker JE (2004) The phosphorylation of subunits of complex I from bovine heart mitochondria. J Biol Chem 279, 26036-45
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
Tyynismaa H, Sembongi H, Bokori-Brown M, Granycome C, Ashley N, Poulton J, Jalanko A, Spelbrink JN, Holt IJ & Suomalainen A (2004) Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number. Hum Mol Genet 13, 3219-27
Limongelli A, Schaefer J, Jackson S, Invernizzi F, Kirino Y, Suzuki T, Reichmann H & Zeviani M (2004) Variable penetrance of a familial progressive necrotising encephalopathy due to a novel tRNA(Ile) homoplasmic mutation in the mitochondrial genome. J Med Genet 41, 342-9
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
Puoti G, Carrara F, Sampaolo S, De Caro M, Vincitorio CM, Invernizzi F & Zeviani M (2003) Identical large scale rearrangement of mitochondrial DNA causes Kearns-Sayre syndrome in a mother and her son. J Med Genet 40, 858-63
Bowmaker M, Yang MYao, Yasukawa T, Reyes A, Jacobs HT, Huberman JA & Holt IJ (2003) Mammalian mitochondrial DNA replicates bidirectionally from an initiation zone. J Biol Chem 278, 50961-9
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
Agostino A, Valletta L, Chinnery PF, Ferrari G, Carrara F, Taylor RW, Schaefer AM, Turnbull DM, Tiranti V & Zeviani M (2003) Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). Neurology 60, 1354-6
James AM, Blaikie FH, Smith RAJ, Lightowlers RN, Smith PM & Murphy MP (2003) Specific targeting of a DNA-alkylating reagent to mitochondria. Synthesis and characterization of [4-((11aS)-7-methoxy-1,2,3,11a-tetrahydro-5H-pyrrolo[2,1-c][1,4]benzodiazepin-5-on-8-oxy)butyl]-triphenylphosphonium iodide. Eur J Biochem 270, 2827-36