Publications

Found 243 results
Filters: Keyword is DNA, Mitochondrial  [Clear All Filters]
2017
Feichtinger RG, Oláhová M, Kishita Y, Garone C, Kremer LS, Yagi M, Uchiumi T, Jourdain AA, Thompson K, D'Souza AR, Kopajtich R, Alston CL, Koch J, Sperl W, Mastantuono E, Strom TM, Wortmann SB, Meitinger T, Pierre G, Chinnery PF, Chrzanowska-Lightowlers ZM, Lightowlers RN, DiMauro S, Calvo SE, Mootha VK, Moggio M, Sciacco M, Comi GP, Ronchi D, Murayama K, Ohtake A, Rebelo-Guiomar P, Kohda M, Kang D, Mayr JA, Taylor RW, Okazaki Y, Minczuk MA & Prokisch H (2017) Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies. Am J Hum Genet 101, 525-538
Liao C, Ashley N, Diot A, Morten K, Phadwal K, Williams A, Fearnley IM, Rosser L, Lowndes J, Fratter C, Ferguson DJP, Vay L, Quaghebeur G, Moroni I, Bianchi S, Lamperti C, Downes SM, Sitarz KS, Flannery PJ, Carver J, Dombi E, East D, Laura M, Reilly MM, Mortiboys H, Prevo R, Campanella M, Daniels MJ, Zeviani M, Yu-Wai-Man P, Simon AKatharina, Votruba M & Poulton J (2017) Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations. Neurology 88, 131-142
2016
Martikainen MH, Ng YShiau, Gorman GS, Alston CL, Blakely EL, Schaefer AM, Chinnery PF, Burn DJ, Taylor RW, McFarland R & Turnbull DM (2016) Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease. JAMA Neurol 73, 668-74
Latorre-Pellicer A, Moreno-Loshuertos R, Lechuga-Vieco AVictoria, Sánchez-Cabo F, Torroja C, Acín-Pérez R, Calvo E, Aix E, González-Guerra A, Logan A, Bernad-Miana MLuisa, Romanos E, Cruz R, Cogliati S, Sobrino B, Carracedo Á, Pérez-Martos A, Fernández-Silva P, Ruíz-Cabello J, Murphy MP, Flores I, Vázquez J & Enríquez JAntonio (2016) Mitochondrial and nuclear DNA matching shapes metabolism and healthy ageing. Nature 535, 561-5
Chinnery PF & Zeviani M (2016) Mitochondrial Matchmaking. N Engl J Med 375, 1894-1896
Thompson K, Majd H, Dallabona C, Reinson K, King MS, Alston CL, He L, Lodi T, Jones SA, Fattal-Valevski A, Fraenkel ND, Saada A, Haham A, Isohanni P, Vara R, Barbosa IA, Simpson MA, Deshpande C, Puusepp S, Bonnen PE, Rodenburg RJ, Suomalainen A, Ounap K, Elpeleg O, Ferrero I, McFarland R, Kunji ERS & Taylor RW (2016) Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number. Am J Hum Genet 99, 860-876
2015
Hämäläinen RH, Ahlqvist KJ, Ellonen P, Lepistö M, Logan A, Otonkoski T, Murphy MP & Suomalainen A (2015) mtDNA Mutagenesis Disrupts Pluripotent Stem Cell Function by Altering Redox Signaling. Cell Rep 11, 1614-24
Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GPietro, Donati MAlice, Federico A, Minetti C, Moggio M, Mongini T, Santorelli FMaria, Servidei S, Tonin P, Toscano A, Bruno C, Bello L, Ienco ECaldarazzo, Cardaioli E, Catteruccia M, Da Pozzo P, Filosto M, Lamperti C, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Sauchelli D, Scarpelli M, Sciacco M, Valentino MLucia, Vercelli L, Zeviani M & Siciliano G (2015) Redefining phenotypes associated with mitochondrial DNA single deletion. J Neurol 262, 1301-9
2014
Bottani E, Giordano C, Civiletto G, Di Meo I, Auricchio A, Ciusani E, Marchet S, Lamperti C, d'Amati G, Viscomi C & Zeviani M (2014) AAV-mediated liver-specific MPV17 expression restores mtDNA levels and prevents diet-induced liver failure. Mol Ther 22, 10-7
van der Burgh R, Nijhuis L, Pervolaraki K, Compeer EB, Jongeneel LH, van Gijn M, Coffer PJ, Murphy MP, Mastroberardino PG, Frenkel J & Boes M (2014) Defects in mitochondrial clearance predispose human monocytes to interleukin-1β hypersecretion. J Biol Chem 289, 5000-12
Giordano C, Iommarini L, Giordano L, Maresca A, Pisano A, Valentino MLucia, Caporali L, Liguori R, Deceglie S, Roberti M, Fanelli F, Fracasso F, Ross-Cisneros FN, D'Adamo P, Hudson G, Pyle A, Yu-Wai-Man P, Chinnery PF, Zeviani M, Salomao SR, Berezovsky A, Belfort R, Ventura DFix, Moraes M, Filho MMoraes, Barboni P, Sadun F, De Negri A, Sadun AA, Tancredi A, Mancini M, d'Amati G, Polosa PLoguercio, Cantatore P & Carelli V (2014) Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy. Brain 137, 335-53
Da-Rè C, Franzolin E, Biscontin A, Piazzesi A, Pacchioni B, Gagliani MCristina, Mazzotta G, Tacchetti C, Zordan MA, Zeviani M, Bernardi P, Bianchi V, De Pittà C & Costa R (2014) Functional characterization of drim2, the Drosophila melanogaster homolog of the yeast mitochondrial deoxynucleotide transporter. J Biol Chem 289, 7448-59
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 MA (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
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 MA (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 MA, 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 MA & 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 MA, Kunz WS & Prokisch H (2013) Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease. Nat Genet 45, 214-9
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
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

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