Publications

Found 54 results
Filters: Keyword is Oxidative Phosphorylation  [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
J Y Jones A, Blaza JN, Varghese F & Hirst J (2017) Respiratory Complex I in Bos taurus and Paracoccus denitrificans Pumps Four Protons across the Membrane for Every NADH Oxidized. J Biol Chem 292, 4987-4995
2016
Mills EL, Kelly B, Logan A, Costa ASH, Varma M, Bryant CE, Tourlomousis P, J Däbritz HM, Gottlieb E, Latorre I, Corr SC, McManus G, Ryan D, Jacobs HT, Szibor M, Xavier RJ, Braun T, Frezza C, Murphy MP & O'Neill LA (2016) Succinate Dehydrogenase Supports Metabolic Repurposing of Mitochondria to Drive Inflammatory Macrophages. Cell 167, 457-470.e13
2015
Viscomi C, Bottani E & Zeviani M (2015) Emerging concepts in the therapy of mitochondrial disease. Biochim Biophys Acta 1847, 544-57
2014
Bridges HR, J Y Jones A, Pollak MN & Hirst J (2014) Effects of metformin and other biguanides on oxidative phosphorylation in mitochondria. Biochem J 462, 475-87
Cerutti R, Pirinen E, Lamperti C, Marchet S, Sauve AA, Li W, Leoni V, Schon EA, Dantzer F, Auwerx J, Viscomi C & Zeviani M (2014) NAD(+)-dependent activation of Sirt1 corrects the phenotype in a mouse model of mitochondrial disease. Cell Metab 19, 1042-9
2013
Harris JM, Esain V, Frechette GM, Harris LJ, Cox AG, Cortes M, Garnaas MK, Carroll KJ, Cutting CC, Khan T, Elks PM, Renshaw SA, Dickinson BC, Chang CJ, Murphy MP, Paw BH, Heiden MGVander, Goessling W & North TE (2013) Glucose metabolism impacts the spatiotemporal onset and magnitude of HSC induction in vivo. Blood 121, 2483-93
Gai X, Ghezzi D, Johnson MA, Biagosch CA, Shamseldin HE, Haack TB, Reyes A, Tsukikawa M, Sheldon CA, Srinivasan S, Gorza M, Kremer LS, Wieland T, Strom TM, Polyak E, Place E, Consugar M, Ostrovsky J, Vidoni S, Robinson AJ, Wong L-J, Sondheimer N, Salih MA, Al-Jishi E, Raab CP, Bean C, Furlan F, Parini R, Lamperti C, Mayr JA, Konstantopoulou V, Huemer M, Pierce EA, Meitinger T, Freisinger P, Sperl W, Prokisch H, Alkuraya FS, Falk MJ & Zeviani M (2013) Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. Am J Hum Genet 93, 482-95
2012
Ghezzi D & Zeviani M (2012) Assembly factors of human mitochondrial respiratory chain complexes: physiology and pathophysiology. Adv Exp Med Biol 748, 65-106
Rorbach J, Gammage PA & Minczuk MA (2012) C7orf30 is necessary for biogenesis of the large subunit of the mitochondrial ribosome. Nucleic Acids Res 40, 4097-109
Invernizzi F, D'Amato I, Jensen PB, Ravaglia S, Zeviani M & Tiranti V (2012) Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells. Mitochondrion 12, 328-35
Smith RAJ, Hartley RC, Cochemé HM & Murphy MP (2012) Mitochondrial pharmacology. Trends Pharmacol Sci 33, 341-52
Sanchez-Martinez A, Calleja M, Peralta S, Matsushima Y, Hernandez-Sierra R, Whitworth AJ, Kaguni LS & Garesse R (2012) Modeling pathogenic mutations of human twinkle in Drosophila suggests an apoptosis role in response to mitochondrial defects. PLoS One 7, e43954
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
2011
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
Moreno-Loshuertos R, Ferrín G, Acín-Pérez R, M Gallardo E, Viscomi C, Pérez-Martos A, Zeviani M, Fernández-Silva P & Enríquez JAntonio (2011) Evolution meets disease: penetrance and functional epistasis of mitochondrial tRNA mutations. PLoS Genet 7, e1001379
Viscomi C, Bottani E, Civiletto G, Cerutti R, Moggio M, Fagiolari G, Schon EA, Lamperti C & Zeviani M (2011) In vivo correction of COX deficiency by activation of the AMPK/PGC-1α axis. Cell Metab 14, 80-90
Rorbach J, Nicholls TJJ & Minczuk MA (2011) PDE12 removes mitochondrial RNA poly(A) tails and controls translation in human mitochondria. Nucleic Acids Res 39, 7750-63
Minczuk MA, 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
2010
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
2009
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
Spinazzola A & Zeviani M (2009) Disorders from perturbations of nuclear-mitochondrial intergenomic cross-talk. J Intern Med 265, 174-92
Fernandez-Ayala DJM, Sanz A, Vartiainen S, Kemppainen KK, Babusiak M, Mustalahti E, Costa R, Tuomela T, Zeviani M, Chung J, O'Dell KMC, Rustin P & Jacobs HT (2009) Expression of the Ciona intestinalis alternative oxidase (AOX) in Drosophila complements defects in mitochondrial oxidative phosphorylation. Cell Metab 9, 449-60

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