Publications

Found 228 results
Filters: Keyword is Mutation  [Clear All Filters]
2007
Valente L, Tiranti V, Marsano RMassimilia, Malfatti E, Fernandez-Vizarra E, Donnini C, Mereghetti P, De Gioia L, Burlina A, Castellan C, Comi GP, Savasta S, Ferrero I & Zeviani M (2007) Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu. Am J Hum Genet 80, 44-58
Zeviani M & Carelli V (2007) Mitochondrial disorders. Curr Opin Neurol 20, 564-71
Malfatti E, Bugiani M, Invernizzi F, de Souza CFischinger, Farina L, Carrara F, Lamantea E, Antozzi C, Confalonieri P, Sanseverino MTeresa, Giugliani R, Uziel G & Zeviani M (2007) Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy. Brain 130, 1894-904
Hudson G, Carelli V, Horvath R, Zeviani M, Smeets HJ & Chinnery PF (2007) X-Inactivation patterns in females harboring mtDNA mutations that cause Leber hereditary optic neuropathy. Mol Vis 13, 2339-43
2006
Iuso A, Scacco S, Piccoli C, Bellomo F, Petruzzella V, Trentadue R, Minuto M, Ripoli M, Capitanio N, Zeviani M & Papa S (2006) Dysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex I. J Biol Chem 281, 10374-80
Tiranti V, Briem E, Lamantea E, Mineri R, Papaleo E, De Gioia L, Forlani F, Rinaldo P, Dickson P, Abu-Libdeh B, Cindro-Heberle L, Owaidha M, Jack RM, Christensen E, Burlina A & Zeviani M (2006) ETHE1 mutations are specific to ethylmalonic encephalopathy. J Med Genet 43, 340-6
Marongiu R, Ghezzi D, Ialongo T, Soleti F, Elia A, Cavone S, Albanese A, Altavista MConcetta, Barone P, Brusa L, Cortelli P, Petrozzi L, Scaglione C, Stanzione P, Tinazzi M, Zeviani M, Dallapiccola B, Bentivoglio ARita, Valente EMaria & Garavaglia B (2006) Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease. Mov Disord 21, 1232-5
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
Spinazzola A, Viscomi C, Fernandez-Vizarra E, Carrara F, D'Adamo P, Calvo S, Marsano RMassimilia, Donnini C, Weiher H, Strisciuglio P, Parini R, Sarzi E, Chan A, DiMauro S, Rötig A, Gasparini P, Ferrero I, Mootha VK, Tiranti V & Zeviani M (2006) MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat Genet 38, 570-5
Longley MJ, Clark S, Man CYu Wai, Hudson G, Durham SE, Taylor RW, Nightingale S, Turnbull DM, Copeland WC & Chinnery PF (2006) Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia. Am J Hum Genet 78, 1026-34
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
Minczuk M, Papworth MA, Kolasinska P, Murphy MP & Klug A (2006) Sequence-specific modification of mitochondrial DNA using a chimeric zinc finger methylase. Proc Natl Acad Sci U S A 103, 19689-94
Tzoulis C, Engelsen BA, Telstad W, Aasly J, Zeviani M, Winterthun S, Ferrari G, Aarseth JH & Bindoff LA (2006) The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases. Brain 129, 1685-92
2005
Winterthun S, Ferrari G, He L, Taylor RW, Zeviani M, Turnbull DM, Engelsen BA, Moen G & Bindoff LA (2005) Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. Neurology 64, 1204-8
Spinazzola A & Zeviani M (2005) Disorders of nuclear-mitochondrial intergenomic signaling. Gene 354, 162-8
Meulener M, Whitworth AJ, Armstrong-Gold CE, Rizzu P, Heutink P, Wes PD, Pallanck LJ & Bonini NM (2005) Drosophila DJ-1 mutants are selectively sensitive to environmental toxins associated with Parkinson's disease. Curr Biol 15, 1572-7
Greene JC, Whitworth AJ, Andrews LA, Parker TJ & Pallanck LJ (2005) Genetic and genomic studies of Drosophila parkin mutants implicate oxidative stress and innate immune responses in pathogenesis. Hum Mol Genet 14, 799-811
Klaus SMJ, Kunji ERS, Bozzo GG, Noiriel A, de la Garza RDíaz, Basset GJC, Ravanel S, Rébeillé F, Gregory JF & Hanson AD (2005) Higher plant plastids and cyanobacteria have folate carriers related to those of trypanosomatids. J Biol Chem 280, 38457-63
Vogel RO, Janssen RJRJ, Ugalde C, Grovenstein M, Huijbens RJ, Visch H-J, van den Heuvel LP, Willems PH, Zeviani M, Smeitink JAM & Nijtmans LGJ (2005) Human mitochondrial complex I assembly is mediated by NDUFAF1. FEBS J 272, 5317-26
Whitworth AJ, Theodore DA, Greene JC, Benes H, Wes PD & Pallanck LJ (2005) Increased glutathione S-transferase activity rescues dopaminergic neuron loss in a Drosophila model of Parkinson's disease. Proc Natl Acad Sci U S A 102, 8024-9
Ferrari G, Lamantea E, Donati A, Filosto M, Briem E, Carrara F, Parini R, Simonati A, Santer R & Zeviani M (2005) Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA. Brain 128, 723-31
Jacobs HT, Hutchin TP, Käppi T, Gillies G, Minkkinen K, Walker J, Thompson K, Rovio AT, Carella M, Melchionda S, Zelante L, Gasparini P, Pyykkö I, Shah ZH, Zeviani M & Mueller RF (2005) Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment. Eur J Hum Genet 13, 26-33
Kujoth GC, Hiona A, Pugh TD, Someya S, Panzer K, Wohlgemuth SE, Hofer T, Seo AY, Sullivan R, Jobling WA, Morrow JD, Van Remmen H, Sedivy JM, Yamasoba T, Tanokura M, Weindruch R, Leeuwenburgh C & Prolla TA (2005) Mitochondrial DNA mutations, oxidative stress, and apoptosis in mammalian aging. Science 309, 481-4
Wang L, Limongelli A, Vila MR, Carrara F, Zeviani M & Eriksson S (2005) Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes. Mol Genet Metab 84, 75-82

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