Publications

Found 221 results
Filters: Keyword is Mutation  [Clear All Filters]
2011
Bridges HR, Birrell JA & Hirst J (2011) The mitochondrial-encoded subunits of respiratory complex I (NADH:ubiquinone oxidoreductase): identifying residues important in mechanism and disease. Biochem Soc Trans 39, 799-806
Pogson JH, Ivatt RM & Whitworth AJ (2011) Molecular mechanisms of PINK1-related neurodegeneration. Curr Neurol Neurosci Rep 11, 283-90
Deas E, Plun-Favreau H, Gandhi S, Desmond H, Kjaer S, H Y Loh S, Renton AEM, Harvey RJ, Whitworth AJ, L Martins M, Abramov AY & Wood NW (2011) PINK1 cleavage at position A103 by the mitochondrial protease PARL. Hum Mol Genet 20, 867-79
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
Uusimaa J, Jungbluth H, Fratter C, Crisponi G, Feng L, Zeviani M, Hughes I, Treacy EP, Birks J, Brown GK, Sewry CA, McDermott M, Muntoni F & Poulton J (2011) Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease. J Med Genet 48, 660-668
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
Azzu V & Brand MD (2010) Degradation of an intramitochondrial protein by the cytosolic proteasome. J Cell Sci 123, 578-85
Ziviani E, Tao RN & Whitworth AJ (2010) Drosophila parkin requires PINK1 for mitochondrial translocation and ubiquitinates mitofusin. Proc Natl Acad Sci U S A 107, 5018-23
Haack TB, Danhauser K, Haberberger B, Hoser J, Strecker V, Boehm D, Uziel G, Lamantea E, Invernizzi F, Poulton J, Rolinski B, Iuso A, Biskup S, Schmidt T, Mewes H-W, Wittig I, Meitinger T, Zeviani M & Prokisch H (2010) Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency. Nat Genet 42, 1131-4
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
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
Barboni P, Carbonelli M, Savini G, Foscarini B, Parisi V, Valentino ML, Carta A, De Negri A, Sadun F, Zeviani M, Sadun AA, Schimpf S, Wissinger B & Carelli V (2010) OPA1 mutations associated with dominant optic atrophy influence optic nerve head size. Ophthalmology 117, 1547-53
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
Dallabona C, Marsano RMassimilia, Arzuffi P, Ghezzi D, Mancini P, Zeviani M, Ferrero I & Donnini C (2010) Sym1, the yeast ortholog of the MPV17 human disease protein, is a stress-induced bioenergetic and morphogenetic mitochondrial modulator. Hum Mol Genet 19, 1098-107
Holt IJ (2010) Zen and the art of mitochondrial DNA maintenance. Trends Genet 26, 103-9
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
Fernandez-Vizarra E, Tiranti V & Zeviani M (2009) Assembly of the oxidative phosphorylation system in humans: what we have learned by studying its defects. Biochim Biophys Acta 1793, 200-11
Dimmock D, Maranda B, Dionisi-Vici C, Wang J, Kleppe S, Fiermonte G, Bai R, Hainline B, Hamosh A, O'Brien WE, Scaglia F & Wong L-J (2009) Citrin deficiency, a perplexing global disorder. Mol Genet Metab 96, 44-9
Spinazzola A, Invernizzi F, Carrara F, Lamantea E, Donati A, Dirocco M, Giordano I, Meznaric-Petrusa M, Baruffini E, Ferrero I & Zeviani M (2009) Clinical and molecular features of mitochondrial DNA depletion syndromes. J Inherit Metab Dis 32, 143-58
Poulton J, Hirano M, Spinazzola A, M Hernandez A, Jardel C, Lombès A, Czermin B, Horvath R, Taanman JW, Rotig A, Zeviani M & Fratter C (2009) Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1). Biochim Biophys Acta 1792, 1109-12
Spinazzola A & Zeviani M (2009) Disorders from perturbations of nuclear-mitochondrial intergenomic cross-talk. J Intern Med 265, 174-92
Tain LS, Chowdhury RB, Tao RN, Plun-Favreau H, Moisoi N, Martins LM, Downward J, Whitworth AJ & Tapon N (2009) Drosophila HtrA2 is dispensable for apoptosis but acts downstream of PINK1 independently from Parkin. Cell Death Differ 16, 1118-25
Parini R, Furlan F, Notarangelo L, Spinazzola A, Uziel G, Strisciuglio P, Concolino D, Corbetta C, Nebbia G, Menni F, Rossi G, Maggioni M & Zeviani M (2009) Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients. J Hepatol 50, 215-21
Orthmann-Murphy JL, Salsano E, Abrams CK, Bizzi A, Uziel G, Freidin MM, Lamantea E, Zeviani M, Scherer SS & Pareyson D (2009) Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations. Brain 132, 426-38
Valente L, Piga D, Lamantea E, Carrara F, Uziel G, Cudia P, Zani A, Farina L, Morandi L, Mora M, Spinazzola A, Zeviani M & Tiranti V (2009) Identification of novel mutations in five patients with mitochondrial encephalomyopathy. Biochim Biophys Acta 1787, 491-501

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