Publications

Found 33 results
Filters: Keyword is DNA Polymerase gamma  [Clear All Filters]
2019
Posse V, Al-Behadili A, Uhler JP, Clausen AR, Reyes A, Zeviani M, Falkenberg M & Gustafsson CM (2019) RNase H1 directs origin-specific initiation of DNA replication in human mitochondria. PLoS Genet 15, e1007781
2014
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
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
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
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
2012
Pelayo-Negro AL, Sánchez-Quintana C, Rodríguez-Oroz MC, Volpini V, Zeviani M, Tola-Arribas MA, Berciano J & Infante J (2012) Screening for POLG W748S and A467T mutations in ataxia patients from Spain. Mov Disord 27, 1326
2011
Baruffini E, Horvath R, Dallabona C, Czermin B, Lamantea E, Bindoff L, Invernizzi F, Ferrero I, Zeviani M & Lodi T (2011) Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model. Mitochondrion 11, 182-90
2010
Tzoulis C, Neckelmann G, Mørk SJ, Engelsen BE, Viscomi C, Moen G, Ersland L, Zeviani M & Bindoff LA (2010) Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes. Brain 133, 1428-37
2009
Poulton J & Holt IJ (2009) 163rd ENMC International Workshop: nucleoid and nucleotide biology in syndromes of mitochondrial DNA depletion myopathy 12-14 December 2008, Naarden, The Netherlands. Neuromuscul Disord 19, 439-43
Di Re M, Sembongi H, He J, Reyes A, Yasukawa T, Martinsson P, Bailey LJ, Goffart S, Boyd-Kirkup JD, Wong TS, Fersht AR, Spelbrink JN & Holt IJ (2009) The accessory subunit of mitochondrial DNA polymerase gamma determines the DNA content of mitochondrial nucleoids in human cultured cells. Nucleic Acids Res 37, 5701-13
Mao C-C & Holt IJ (2009) Clinical and molecular aspects of diseases of mitochondrial DNA instability. Chang Gung Med J 32, 354-69
Lamperti C & Zeviani M (2009) Encephalomyopathies caused by abnormal nuclear-mitochondrial intergenomic cross-talk. Acta Myol 28, 2-11
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
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
Galassi G, Lamantea E, Invernizzi F, Tavani F, Pisano I, Ferrero I, Palmieri L & Zeviani M (2008) Additive effects of POLG1 and ANT1 mutations in a complex encephalomyopathy. Neuromuscul Disord 18, 465-70
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
Engelsen BA, Tzoulis C, Karlsen B, Lillebø A, Laegreid LM, Aasly J, Zeviani M & Bindoff LA (2008) POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection. Brain 131, 818-28
Invernizzi F, Varanese S, Thomas A, Carrara F, Onofrj M & Zeviani M (2008) Two novel POLG1 mutations in a patient with progressive external ophthalmoplegia, levodopa-responsive pseudo-orthostatic tremor and parkinsonism. Neuromuscul Disord 18, 460-4
2007
Craig K, Ferrari G, Tiangyou W, Hudson G, Gellera C, Zeviani M & Chinnery PF (2007) The A467T and W748S POLG substitutions are a rare cause of adult-onset ataxia in Europe. Brain 130, E69; author reply E70
Ashley N, Adams S, Slama A, Zeviani M, Suomalainen A, Andreu AL, Naviaux RK & Poulton J (2007) Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalances. Hum Mol Genet 16, 1400-11
Alberio S, Mineri R, Tiranti V & Zeviani M (2007) Depletion of mtDNA: syndromes and genes. Mitochondrion 7, 6-12
2006
Baruffini E, Lodi T, Dallabona C, Puglisi A, Zeviani M & Ferrero I (2006) Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans. Hum Mol Genet 15, 2846-55
Horvath R, Hudson G, Ferrari G, Fütterer N, Ahola S, Lamantea E, Prokisch H, Lochmüller H, McFarland R, Ramesh V, Klopstock T, Freisinger P, Salvi F, Mayr JA, Santer R, Tesarova M, Zeman J, Udd B, Taylor RW, Turnbull D, Hanna M, Fialho D, Suomalainen A, Zeviani M & Chinnery PF (2006) Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Brain 129, 1674-84
Tiangyou W, Hudson G, Ghezzi D, Ferrari G, Zeviani M, Burn DJ & Chinnery PF (2006) POLG1 in idiopathic Parkinson disease. Neurology 67, 1698-700
Brusco A, Michielotto C, Gatta V, Foresta C, Matullo G, Zeviani M, Ferrari G, Dragone E, Calabrese G, Rossato M, Stuppia L & Migone N (2006) The polymorphic polyglutamine repeat in the mitochondrial DNA polymerase gamma gene is not associated with oligozoospermia. J Endocrinol Invest 29, 1-4

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