Publications

Found 263 results
Filters: Keyword is DNA, Mitochondrial  [Clear All Filters]
2014
Torres-Torronteras J, Viscomi C, Cabrera-Pérez R, Cámara Y, Di Meo I, Barquinero J, Auricchio A, Pizzorno G, Hirano M, Zeviani M & Martí R (2014) Gene therapy using a liver-targeted AAV vector restores nucleoside and nucleotide homeostasis in a murine model of MNGIE. Mol Ther 22, 901-7
Nicholls TJ & Minczuk M (2014) In D-loop: 40 years of mitochondrial 7S DNA. Exp Gerontol 56, 175-81
Logan A, Shabalina IG, Prime TA, Rogatti S, Kalinovich AV, Hartley RC, Budd RC, Cannon B & Murphy MP (2014) In vivo levels of mitochondrial hydrogen peroxide increase with age in mtDNA mutator mice. Aging Cell 13, 765-8
Nicholls TJ, Zsurka G, Peeva V, Schöler S, Szczesny RJ, Cysewski D, Reyes A, Kornblum C, Sciacco M, Moggio M, Dziembowski A, Kunz WS & Minczuk M (2014) Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease. Hum Mol Genet 23, 6147-62
Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GPietro, Donati A, Minetti C, Moggio M, Mongini T, Servidei S, Tonin P, Toscano A, Uziel G, Bruno C, Ienco ECaldarazzo, Filosto M, Lamperti C, Catteruccia M, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Santorelli FMaria, Sauchelli D, Scarpelli M, Sciacco M, Valentino MLucia, Vercelli L, Zeviani M & Siciliano G (2014) The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?. J Neurol 261, 504-10
Gammage PA, Rorbach J, Vincent AI, Rebar EJ & Minczuk M (2014) Mitochondrially targeted ZFNs for selective degradation of pathogenic mitochondrial genomes bearing large-scale deletions or point mutations. EMBO Mol Med 6, 458-66
Diodato D, Melchionda L, Haack TB, Dallabona C, Baruffini E, Donnini C, Granata T, Ragona F, Balestri P, Margollicci M, Lamantea E, Nasca A, Powell CA, Minczuk M, Strom TM, Meitinger T, Prokisch H, Lamperti C, Zeviani M & Ghezzi D (2014) VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies. Hum Mutat 35, 983-9
2013
Kazak L, Reyes A, Duncan AL, Rorbach J, Wood SR, Brea-Calvo G, Gammage PA, Robinson AJ, Minczuk M & Holt IJ (2013) Alternative translation initiation augments the human mitochondrial proteome. Nucleic Acids Res 41, 2354-69
Saracchi E, Difrancesco JC, Brighina L, Marzorati L, Curtò NA, Lamperti C, Carrara F, Zeviani M & Ferrarese C (2013) A case of Leber hereditary optic neuropathy plus dystonia caused by G14459A mitochondrial mutation. Neurol Sci 34, 407-8
Kornblum C, Nicholls TJ, Haack TB, Schöler S, Peeva V, Danhauser K, Hallmann K, Zsurka G, Rorbach J, Iuso A, Wieland T, Sciacco M, Ronchi D, Comi GP, Moggio M, Quinzii CM, DiMauro S, Calvo SE, Mootha VK, Klopstock T, Strom TM, Meitinger T, Minczuk M, Kunz WS & Prokisch H (2013) Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease. Nat Genet 45, 214-9
Nezich CL & Youle RJ (2013) Make or break for mitochondria. Elife 2, e00804
Yu E, Calvert PA, Mercer JR, Harrison J, Baker L, Figg NL, Kumar S, Wang JC, Hurst LA, Obaid DR, Logan A, West NEJ, Clarke MCH, Vidal-Puig A, Murphy MP & Bennett MR (2013) Mitochondrial DNA damage can promote atherosclerosis independently of reactive oxygen species through effects on smooth muscle cells and monocytes and correlates with higher-risk plaques in humans. Circulation 128, 702-12
Reyes A, Kazak L, Wood SR, Yasukawa T, Jacobs HT & Holt IJ (2013) Mitochondrial DNA replication proceeds via a 'bootlace' mechanism involving the incorporation of processed transcripts. Nucleic Acids Res 41, 5837-50
Chinnery PFrancis & Hudson G (2013) Mitochondrial genetics. Br Med Bull 106, 135-59
Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GPietro, Minetti C, Moggio M, Mongini T, Servidei S, Tonin P, Toscano A, Uziel G, Bruno C, Ienco ECaldarazzo, Filosto M, Lamperti C, Martinelli D, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Santorelli FMaria, Sauchelli D, Scarpelli M, Sciacco M, Spinazzi M, Valentino MLucia, Vercelli L, Zeviani M & Siciliano G (2013) Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation. Neurology 80, 2049-54
García-Gómez S, Reyes A, Martínez-Jiménez MI, E Chocrón S, Mourón S, Terrados G, Powell C, Salido E, Méndez J, Holt IJ & Blanco L (2013) PrimPol, an archaic primase/polymerase operating in human cells. Mol Cell 52, 541-53
Mourtada R, Fonseca SB, Wisnovsky SP, Pereira MP, Wang X, Hurren R, Parfitt J, Larsen L, Smith RAJ, Murphy MP, Schimmer AD & Kelley SO (2013) Re-directing an alkylating agent to mitochondria alters drug target and cell death mechanism. PLoS One 8, e60253
Kennedy SR, Salk JJ, Schmitt MW & Loeb LA (2013) Ultra-sensitive sequencing reveals an age-related increase in somatic mitochondrial mutations that are inconsistent with oxidative damage. PLoS Genet 9, e1003794
2012
Zeviani M, Simonati A & Bindoff LA (2012) Ataxia in mitochondrial disorders. Handb Clin Neurol 103, 359-72
He J, Cooper HM, Reyes A, Di Re M, Kazak L, Wood SR, Mao CC, Fearnley IM, Walker JE & Holt IJ (2012) Human C4orf14 interacts with the mitochondrial nucleoid and is involved in the biogenesis of the small mitochondrial ribosomal subunit. Nucleic Acids Res 40, 6097-108
Holt IJ & Reyes A (2012) Human mitochondrial DNA replication. Cold Spring Harb Perspect Biol 4
Sharma NK, Reyes A, Green P, Caron MJ, Bonini MG, Gordon DM, Holt IJ & Santos JHertzog (2012) Human telomerase acts as a hTR-independent reverse transcriptase in mitochondria. Nucleic Acids Res 40, 712-25
Lamperti C, Diodato D, Lamantea E, Carrara F, Ghezzi D, Mereghetti P, Rizzi R & Zeviani M (2012) MELAS-like encephalomyopathy caused by a new pathogenic mutation in the mitochondrial DNA encoded cytochrome c oxidase subunit I. Neuromuscul Disord 22, 990-4
Kazak L, Reyes A & Holt IJ (2012) Minimizing the damage: repair pathways keep mitochondrial DNA intact. Nat Rev Mol Cell Biol 13, 659-71
He J, Cooper HM, Reyes A, Di Re M, Sembongi H, Litwin TR, Gao J, Neuman KC, Fearnley IM, Spinazzola A, Walker JE & Holt IJ (2012) Mitochondrial nucleoid interacting proteins support mitochondrial protein synthesis. Nucleic Acids Res 40, 6109-21

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