Publications

Found 263 results
Filters: Keyword is DNA, Mitochondrial  [Clear All Filters]
2012
Ghezzi D, Baruffini E, Haack TB, Invernizzi F, Melchionda L, Dallabona C, Strom TM, Parini R, Burlina AB, Meitinger T, Prokisch H, Ferrero I & Zeviani M (2012) Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis. Am J Hum Genet 90, 1079-87
Lamperti C, Fang M, Invernizzi F, Liu X, Wang H, Zhang Q, Carrara F, Moroni I, Zeviani M, Zhang J & Ghezzi D (2012) A novel homozygous mutation in SUCLA2 gene identified by exome sequencing. Mol Genet Metab 107, 403-8
Arzuffi P, Lamperti C, Fernandez-Vizarra E, Tonin P, Morandi L & Zeviani M (2012) Partial tandem duplication of mtDNA-tRNA(Phe) impairs mtDNA translation in late-onset mitochondrial myopathy. Neuromuscul Disord 22, 50-5
Achilli A, Iommarini L, Olivieri A, Pala M, Kashani BHooshiar, Reynier P, La Morgia C, Valentino MLucia, Liguori R, Pizza F, Barboni P, Sadun F, De Negri AMaria, Zeviani M, Dollfus H, Moulignier A, Ducos G, Orssaud C, Bonneau D, Procaccio V, Leo-Kottler B, Fauser S, Wissinger B, Amati-Bonneau P, Torroni A & Carelli V (2012) Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy. PLoS One 7, e42242
Freyer C, Cree LM, Mourier A, Stewart JB, Koolmeister C, Milenkovic D, Wai T, Floros VI, Hagström E, Chatzidaki EE, Wiesner RJ, Samuels DC, Larsson N-G & Chinnery PF (2012) Variation in germline mtDNA heteroplasmy is determined prenatally but modified during subsequent transmission. Nat Genet 44, 1282-5
2011
Reyes A, He J, Mao CC, Bailey LJ, Di Re M, Sembongi H, Kazak L, Dzionek K, Holmes JB, Cluett TJ, Harbour ME, Fearnley IM, Crouch RJ, Conti MA, Adelstein RS, Walker JE & Holt IJ (2011) Actin and myosin contribute to mammalian mitochondrial DNA maintenance. Nucleic Acids Res 39, 5098-108
Lodi R, Tonon C, Valentino MLucia, Manners D, Testa C, Malucelli E, La Morgia C, Barboni P, Carbonelli M, Schimpf S, Wissinger B, Zeviani M, Baruzzi A, Liguori R, Barbiroli B & Carelli V (2011) Defective mitochondrial adenosine triphosphate production in skeletal muscle from patients with dominant optic atrophy due to OPA1 mutations. Arch Neurol 68, 67-73
Uziel G, Ghezzi D & Zeviani M (2011) Infantile mitochondrial encephalopathy. Semin Fetal Neonatal Med 16, 205-15
Spinazzola A (2011) Mitochondrial DNA mutations and depletion in pediatric medicine. Semin Fetal Neonatal Med 16, 190-6
Hyvärinen AK, Pohjoismäki JLO, Holt IJ & Jacobs HT (2011) Overexpression of MTERFD1 or MTERFD3 impairs the completion of mitochondrial DNA replication. Mol Biol Rep 38, 1321-8
Klopstock T, Yu-Wai-Man P, Dimitriadis K, Rouleau J, Heck S, Bailie M, Atawan A, Chattopadhyay S, Schubert M, Garip A, Kernt M, Petraki D, Rummey C, Leinonen M, Metz G, Griffiths PG, Meier T & Chinnery PF (2011) A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy. Brain 134, 2677-86
Minczuk M, He J, Duch AM, Ettema TJ, Chlebowski A, Dzionek K, Nijtmans LGJ, Huynen MA & Holt IJ (2011) TEFM (c17orf42) is necessary for transcription of human mtDNA. Nucleic Acids Res 39, 4284-99
Hudson G, Yu-Wai-Man P, Griffiths PG, Horvath R, Carelli V, Zeviani M & Chinnery PF (2011) Variation in MAPT is not a contributing factor to the incomplete penetrance in LHON. Mitochondrion 11, 620-2
2010
Minczuk M, Kolasinska-Zwierz P, Murphy MP & Papworth MA (2010) Construction and testing of engineered zinc-finger proteins for sequence-specific modification of mtDNA. Nat Protoc 5, 342-56
Mercer JR, Cheng K-K, Figg N, Gorenne I, Mahmoudi M, Griffin J, Vidal-Puig A, Logan A, Murphy MP & Bennett M (2010) DNA damage links mitochondrial dysfunction to atherosclerosis and the metabolic syndrome. Circ Res 107, 1021-31
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
Pohjoismäki JLO, J Holmes B, Wood SR, Yang M-Y, Yasukawa T, Reyes A, Bailey LJ, Cluett TJ, Goffart S, Willcox S, Rigby RE, Jackson AP, Spelbrink JN, Griffith JD, Crouch RJ, Jacobs HT & Holt IJ (2010) Mammalian mitochondrial DNA replication intermediates are essentially duplex but contain extensive tracts of RNA/DNA hybrid. J Mol Biol 397, 1144-55
Fusté JMiralles, Wanrooij S, Jemt E, Granycome CE, Cluett TJ, Shi Y, Atanassova N, Holt IJ, Gustafsson CM & Falkenberg M (2010) Mitochondrial RNA polymerase is needed for activation of the origin of light-strand DNA replication. Mol Cell 37, 67-78
Yu-Wai-Man P, Griffiths PG, Gorman GS, Lourenco CM, Wright AF, Auer-Grumbach M, Toscano A, Musumeci O, Valentino ML, Caporali L, Lamperti C, Tallaksen CM, Duffey P, Miller J, Whittaker RG, Baker MR, Jackson MJ, Clarke MP, Dhillon B, Czermin B, Stewart JD, Hudson G, Reynier P, Bonneau D, Marques W, Lenaers G, McFarland R, Taylor RW, Turnbull DM, Votruba M, Zeviani M, Carelli V, Bindoff LA, Horvath R, Amati-Bonneau P & Chinnery PF (2010) Multi-system neurological disease is common in patients with OPA1 mutations. Brain 133, 771-86
Samuels DC, Wonnapinij P, Cree LM & Chinnery PF (2010) Reassessing evidence for a postnatal mitochondrial genetic bottleneck. Nat Genet 42, 471-2; author reply 472-3
Ghezzi D, Sevrioukova I, Invernizzi F, Lamperti C, Mora M, D'Adamo P, Novara F, Zuffardi O, Uziel G & Zeviani M (2010) Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor. Am J Hum Genet 86, 639-49
Larsson N-G (2010) Somatic mitochondrial DNA mutations in mammalian aging. Annu Rev Biochem 79, 683-706
Poulton J, Chiaratti MR, Meirelles FV, Kennedy S, Wells D & Holt IJ (2010) Transmission of mitochondrial DNA diseases and ways to prevent them. PLoS Genet 6
Suzuki Y, J Holmes B, Cerritelli SM, Sakhuja K, Minczuk M, Holt IJ & Crouch RJ (2010) An upstream open reading frame and the context of the two AUG codons affect the abundance of mitochondrial and nuclear RNase H1. Mol Cell Biol 30, 5123-34
Hudson G, Yu-Wai-Man P, Griffiths PG, Caporali L, Salomao SS, Berezovsky A, Carelli V, Zeviani M & Chinnery PF (2010) Variation in OPA1 does not explain the incomplete penetrance of Leber hereditary optic neuropathy. Mol Vis 16, 2760-4

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