Publications

Found 988 results
Filters: Keyword is Humans  [Clear All Filters]
2013
Baruffini E, Dallabona C, Invernizzi F, Yarham JW, Melchionda L, Blakely EL, Lamantea E, Donnini C, Santra S, Vijayaraghavan S, Roper HP, Burlina A, Kopajtich R, Walther A, Strom TM, Haack TB, Prokisch H, Taylor RW, Ferrero I, Zeviani M & Ghezzi D (2013) MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast. Hum Mutat 34, 1501-9
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
Rhein VF, Carroll J, Ding S, Fearnley IM & Walker JE (2013) NDUFAF7 methylates arginine 85 in the NDUFS2 subunit of human complex I. J Biol Chem 288, 33016-26
Pfeffer G, Horvath R, Klopstock T, Mootha VK, Suomalainen A, Koene S, Hirano M, Zeviani M, Bindoff LA, Yu-Wai-Man P, Hanna M, Carelli V, McFarland R, Majamaa K, Turnbull DM, Smeitink J & Chinnery PF (2013) New treatments for mitochondrial disease-no time to drop our standards. Nat Rev Neurol 9, 474-81
Bonneau B, Prudent J, Popgeorgiev N & Gillet G (2013) Non-apoptotic roles of Bcl-2 family: the calcium connection. Biochim Biophys Acta 1833, 1755-65
Burchell VS, Nelson DE, Sanchez-Martinez A, Delgado-Camprubi M, Ivatt RM, Pogson JH, Randle SJ, Wray S, Lewis PA, Houlden H, Abramov AY, Hardy J, Wood NW, Whitworth AJ, Laman H & Plun-Favreau H (2013) The Parkinson's disease-linked proteins Fbxo7 and Parkin interact to mediate mitophagy. Nat Neurosci 16, 1257-65
Billson HA, Holland C, Curwell J, Davey VL, Kinsey L, Lawton LJ, Whitworth AJ & Burden S (2013) Perioperative nutrition interventions for women with ovarian cancer. Cochrane Database Syst Rev, CD009884
Pareyson D, Piscosquito G, Moroni I, Salsano E & Zeviani M (2013) Peripheral neuropathy in mitochondrial disorders. Lancet Neurol 12, 1011-24
Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GPietro, Minetti C, Moggio M, Mongini T, Servidei S, Tonin P, Toscano A, Uziel G, Bruno C, Ienco ECaldarazzo, Filosto M, Lamperti C, Martinelli D, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Santorelli FMaria, Sauchelli D, Scarpelli M, Sciacco M, Spinazzi M, Valentino MLucia, Vercelli L, Zeviani M & Siciliano G (2013) Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation. Neurology 80, 2049-54
Elrod JW & Molkentin JD (2013) Physiologic functions of cyclophilin D and the mitochondrial permeability transition pore. Circ J 77, 1111-22
Narendra DP, Wang C, Youle RJ & Walker JE (2013) PINK1 rendered temperature sensitive by disease-associated and engineered mutations. Hum Mol Genet 22, 2572-89
Carroll J, Ding S, Fearnley IM & Walker JE (2013) Post-translational modifications near the quinone binding site of mammalian complex I. J Biol Chem 288, 24799-808
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
Mourtada R, Fonseca SB, Wisnovsky SP, Pereira MP, Wang X, Hurren R, Parfitt J, Larsen L, Smith RAJ, Murphy MP, Schimmer AD & Kelley SO (2013) Re-directing an alkylating agent to mitochondria alters drug target and cell death mechanism. PLoS One 8, e60253
Shintre CA, Pike ACW, Li Q, Kim J-I, Barr AJ, Goubin S, Shrestha L, Yang J, Berridge G, Ross J, Stansfeld PJ, Sansom MSP, Edwards AM, Bountra C, Marsden BD, von Delft F, Bullock AN, Gileadi O, Burgess-Brown NA & Carpenter EP (2013) Structures of ABCB10, a human ATP-binding cassette transporter in apo- and nucleotide-bound states. Proc Natl Acad Sci U S A 110, 9710-5
Mifsud J, Ravaud S, Krammer E-M, Chipot C, Kunji ERS, Pebay-Peyroula E & Dehez F (2013) The substrate specificity of the human ADP/ATP carrier AAC1. Mol Membr Biol 30, 160-8
Echaniz-Laguna A, Ghezzi D, Chassagne M, Mayençon M, Padet S, Melchionda L, Rouvet I, Lannes B, Bozon D, Latour P, Zeviani M & de Camaret BMousson (2013) SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease. Neurology 81, 1523-30
Zhang L, Karsten P, Hamm S, Pogson JH, A Muller-Rischart K, Exner N, Haass C, Whitworth AJ, Winklhofer KF, Schulz JB & Voigt A (2013) TRAP1 rescues PINK1 loss-of-function phenotypes. Hum Mol Genet 22, 2829-41
Mugoni V, Postel R, Catanzaro V, De Luca E, Turco E, Digilio G, Silengo L, Murphy MP, Medana C, Stainier DYR, Bakkers J & Santoro MM (2013) Ubiad1 is an antioxidant enzyme that regulates eNOS activity by CoQ10 synthesis. Cell 152, 504-18
2012
Ghezzi D & Zeviani M (2012) Assembly factors of human mitochondrial respiratory chain complexes: physiology and pathophysiology. Adv Exp Med Biol 748, 65-106
Zeviani M, Simonati A & Bindoff LA (2012) Ataxia in mitochondrial disorders. Handb Clin Neurol 103, 359-72
Rorbach J, Gammage PA & Minczuk M (2012) C7orf30 is necessary for biogenesis of the large subunit of the mitochondrial ribosome. Nucleic Acids Res 40, 4097-109
Rinaldi C, Grunseich C, Sevrioukova IF, Schindler A, Horkayne-Szakaly I, Lamperti C, Landouré G, Kennerson ML, Burnett BG, Bönnemann C, Biesecker LG, Ghezzi D, Zeviani M & Fischbeck KH (2012) Cowchock syndrome is associated with a mutation in apoptosis-inducing factor. Am J Hum Genet 91, 1095-102
Roberts PG & Hirst J (2012) The deactive form of respiratory complex I from mammalian mitochondria is a Na+/H+ antiporter. J Biol Chem 287, 34743-51
Tarallo V, Hirano Y, Gelfand BD, Dridi S, Kerur N, Kim Y, Cho WGil, Kaneko H, Fowler BJ, Bogdanovich S, Albuquerque RJC, Hauswirth WW, Chiodo VA, Kugel JF, Goodrich JA, Ponicsan SL, Chaudhuri G, Murphy MP, Dunaief JL, Ambati BK, Ogura Y, Yoo JWook, Lee D-ki, Provost P, Hinton DR, Núñez G, Baffi JZ, Kleinman ME & Ambati J (2012) DICER1 loss and Alu RNA induce age-related macular degeneration via the NLRP3 inflammasome and MyD88. Cell 149, 847-59

Pages