Publications

Found 256 results
Filters: Keyword is DNA, Mitochondrial  [Clear All Filters]
2004
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
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
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
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 & 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
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
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
Yang MYao, Bowmaker M, Reyes A, Vergani L, Angeli P, Gringeri E, Jacobs HT & Holt IJ (2002) Biased incorporation of ribonucleotides on the mitochondrial L-strand accounts for apparent strand-asymmetric DNA replication. Cell 111, 495-505
Carelli V, Baracca A, Barogi S, Pallotti F, Valentino MLucia, Montagna P, Zeviani M, Pini A, Lenaz G, Baruzzi A & Solaini G (2002) Biochemical-clinical correlation in patients with different loads of the mitochondrial DNA T8993G mutation. Arch Neurol 59, 264-70
James AM & Murphy MP (2002) How mitochondrial damage affects cell function. J Biomed Sci 9, 475-87
Corona P, Lamantea E, Greco M, Carrara F, Agostino A, Guidetti D, Dotti MT, Mariotti C & Zeviani M (2002) Novel heteroplasmic mtDNA mutation in a family with heterogeneous clinical presentations. Ann Neurol 51, 118-22
Lamantea E, Carrara F, Mariotti C, Morandi L, Tiranti V & Zeviani M (2002) A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and III. Neuromuscul Disord 12, 49-52
2001
Taylor RW, Wardell TM, Smith PM, Muratovska A, Murphy MP, Turnbull DM & Lightowlers RN (2001) An antigenomic strategy for treating heteroplasmic mtDNA disorders. Adv Drug Deliv Rev 49, 121-5

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