Publications

Found 202 results
Filters: Keyword is Mutation  [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
Liao C, Ashley N, Diot A, Morten K, Phadwal K, Williams A, Fearnley IM, Rosser L, Lowndes J, Fratter C, Ferguson DJP, Vay L, Quaghebeur G, Moroni I, Bianchi S, Lamperti C, Downes SM, Sitarz KS, Flannery PJ, Carver J, Dombi E, East D, Laura M, Reilly MM, Mortiboys H, Prevo R, Campanella M, Daniels MJ, Zeviani M, Yu-Wai-Man P, Simon AKatharina, Votruba M & Poulton J (2017) Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations. Neurology 88, 131-142
Bansagi B, Griffin H, Whittaker RG, Antoniadi T, Evangelista T, Miller J, Greenslade M, Forester N, Duff J, Bradshaw A, Kleinle S, Boczonadi V, Steele H, Ramesh V, Franko E, Pyle A, Lochmüller H, Chinnery PF & Horvath R (2017) Genetic heterogeneity of motor neuropathies. Neurology 88, 1226-1234
Minnerop M, Kurzwelly D, Wagner H, Soehn AS, Reichbauer J, Tao F, Rattay TW, Peitz M, Rehbach K, Giorgetti A, Pyle A, Thiele H, Altmüller J, Timmann D, Karaca I, Lennarz M, Baets J, Hengel H, Synofzik M, Atasu B, Feely S, Kennerson M, Stendel C, Lindig T, Gonzalez MA, Stirnberg R, Sturm M, Roeske S, Jung J, Bauer P, Lohmann E, Herms S, Heilmann-Heimbach S, Nicholson G, Mahanjah M, Sharkia R, Carloni P, Brüstle O, Klopstock T, Mathews KD, Shy ME, de Jonghe P, Chinnery PF, Horvath R, Kohlhase J, Schmitt I, Wolf M, Greschus S, Amunts K, Maier W, Schöls L, Nürnberg P, Zuchner S, Klockgether T, Ramirez A & Schüle R (2017) Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia. Brain 140, 1561-1578
2016
Martikainen MH, Ng YShiau, Gorman GS, Alston CL, Blakely EL, Schaefer AM, Chinnery PF, Burn DJ, Taylor RW, McFarland R & Turnbull DM (2016) Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease. JAMA Neurol 73, 668-74
Lehtonen JM, Forsström S, Bottani E, Viscomi C, Baris OR, Isoniemi H, Höckerstedt K, Österlund P, Hurme M, Jylhävä J, Leppä S, Markkula R, Heliö T, Mombelli G, Uusimaa J, Laaksonen R, Laaksovirta H, Auranen M, Zeviani M, Smeitink J, Wiesner RJ, Nakada K, Isohanni P & Suomalainen A (2016) FGF21 is a biomarker for mitochondrial translation and mtDNA maintenance disorders. Neurology 87, 2290-2299
McCorvie TJ, Kopec J, Pey AL, Fitzpatrick F, Patel D, Chalk R, Shrestha L & Yue WW (2016) Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase. Hum Mol Genet 25, 2234-2244
Harel T, Yoon WHee, Garone C, Gu S, Coban-Akdemir Z, Eldomery MK, Posey JE, Jhangiani SN, Rosenfeld JA, Cho MT, Fox S, Withers M, Brooks SM, Chiang T, Duraine L, Erdin S, Yuan B, Shao Y, Moussallem E, Lamperti C, Donati MA, Smith JD, McLaughlin HM, Eng CM, Walkiewicz M, Xia F, Pippucci T, Magini P, Seri M, Zeviani M, Hirano M, Hunter JV, Srour M, Zanigni S, Lewis RAlan, Muzny DM, Lotze TE, Boerwinkle E, Gibbs RA, Hickey SE, Graham BH, Yang Y, Buhas D, Martin DM, Potocki L, Graziano C, Bellen HJ & Lupski JR (2016) Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. Am J Hum Genet 99, 831-845
Thompson K, Majd H, Dallabona C, Reinson K, King MS, Alston CL, He L, Lodi T, Jones SA, Fattal-Valevski A, Fraenkel ND, Saada A, Haham A, Isohanni P, Vara R, Barbosa IA, Simpson MA, Deshpande C, Puusepp S, Bonnen PE, Rodenburg RJ, Suomalainen A, Ounap K, Elpeleg O, Ferrero I, McFarland R, Kunji ERS & Taylor RW (2016) Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number. Am J Hum Genet 99, 860-876
2015
Paupe V, Prudent J, Dassa EP, Rendon OZurita & Shoubridge EA (2015) CCDC90A (MCUR1) is a cytochrome c oxidase assembly factor and not a regulator of the mitochondrial calcium uniporter. Cell Metab 21, 109-16
Brea-Calvo G, Haack TB, Karall D, Ohtake A, Invernizzi F, Carrozzo R, Kremer L, Dusi S, Fauth C, Scholl-Bürgi S, Graf E, Ahting U, Resta N, Laforgia N, Verrigni D, Okazaki Y, Kohda M, Martinelli D, Freisinger P, Strom TM, Meitinger T, Lamperti C, Lacson A, Navas P, Mayr JA, Bertini E, Murayama K, Zeviani M, Prokisch H & Ghezzi D (2015) COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency. Am J Hum Genet 96, 309-17
Rocca MA, Bianchi-Marzoli S, Messina R, Cascavilla MLucia, Zeviani M, Lamperti C, Milesi J, Carta A, Cammarata G, Leocani L, Lamantea E, Bandello F, Comi G, Falini A & Filippi M (2015) Distributed abnormalities of brain white matter architecture in patients with dominant optic atrophy and OPA1 mutations. J Neurol 262, 1216-27
Vanderperre B, Bender T, Kunji ERS & Martinou J-C (2015) Mitochondrial pyruvate import and its effects on homeostasis. Curr Opin Cell Biol 33, 35-41
Lee J, Ding S, Walpole TB, Holding AN, Montgomery MG, Fearnley IM & Walker JE (2015) Organization of Subunits in the Membrane Domain of the Bovine F-ATPase Revealed by Covalent Cross-linking. J Biol Chem 290, 13308-20
2014
Barboni P, Savini G, Cascavilla MLucia, Caporali L, Milesi J, Borrelli E, La Morgia C, Valentino MLucia, Triolo G, Lembo A, Carta A, De Negri A, Sadun F, Rizzo G, Parisi V, Pierro L, Marzoli SBianchi, Zeviani M, Sadun AA, Bandello F & Carelli V (2014) Early macular retinal ganglion cell loss in dominant optic atrophy: genotype-phenotype correlation. Am J Ophthalmol 158, 628-36.e3
Suomi F, Menger KE, Monteuuis G, Naumann U, Kursu VASamuli, Shvetsova A & Kastaniotis AJ (2014) Expression and evolution of the non-canonically translated yeast mitochondrial acetyl-CoA carboxylase Hfa1p. PLoS One 9, e114738
Torres-Torronteras J, Viscomi C, Cabrera-Pérez R, Cámara Y, Di Meo I, Barquinero J, Auricchio A, Pizzorno G, Hirano M, Zeviani M & Martí R (2014) Gene therapy using a liver-targeted AAV vector restores nucleoside and nucleotide homeostasis in a murine model of MNGIE. Mol Ther 22, 901-7
Logan A, Shabalina IG, Prime TA, Rogatti S, Kalinovich AV, Hartley RC, Budd RC, Cannon B & Murphy MP (2014) In vivo levels of mitochondrial hydrogen peroxide increase with age in mtDNA mutator mice. Aging Cell 13, 765-8
Perli E, Giordano C, Pisano A, Montanari A, Campese AF, Reyes A, Ghezzi D, Nasca A, Tuppen HA, Orlandi M, Di Micco P, Poser E, Taylor RW, Colotti G, Francisci S, Morea V, Frontali L, Zeviani M & d'Amati G (2014) The isolated carboxy-terminal domain of human mitochondrial leucyl-tRNA synthetase rescues the pathological phenotype of mitochondrial tRNA mutations in human cells. EMBO Mol Med 6, 169-82
Da-Rè C, von Stockum S, Biscontin A, Millino C, Cisotto P, Zordan MA, Zeviani M, Bernardi P, De Pittà C & Costa R (2014) Leigh syndrome in Drosophila melanogaster: morphological and biochemical characterization of Surf1 post-transcriptional silencing. J Biol Chem 289, 29235-46
Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GPietro, Donati A, Minetti C, Moggio M, Mongini T, Servidei S, Tonin P, Toscano A, Uziel G, Bruno C, Ienco ECaldarazzo, Filosto M, Lamperti C, Catteruccia M, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Santorelli FMaria, Sauchelli D, Scarpelli M, Sciacco M, Valentino MLucia, Vercelli L, Zeviani M & Siciliano G (2014) The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?. J Neurol 261, 504-10
Melchionda L, Haack TB, Hardy S, Abbink TEM, Fernandez-Vizarra E, Lamantea E, Marchet S, Morandi L, Moggio M, Carrozzo R, Torraco A, Diodato D, Strom TM, Meitinger T, Tekturk P, Yapici Z, Al-Murshedi F, Stevens R, Rodenburg RJ, Lamperti C, Ardissone A, Moroni I, Uziel G, Prokisch H, Taylor RW, Bertini E, van der Knaap MS, Ghezzi D & Zeviani M (2014) Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency. Am J Hum Genet 95, 315-25
Kopajtich R, Nicholls TJ, Rorbach J, Metodiev MD, Freisinger P, Mandel H, Vanlander A, Ghezzi D, Carrozzo R, Taylor RW, Marquard K, Murayama K, Wieland T, Schwarzmayr T, Mayr JA, Pearce SF, Powell CA, Saada A, Ohtake A, Invernizzi F, Lamantea E, Sommerville EW, Pyle A, Chinnery PF, Crushell E, Okazaki Y, Kohda M, Kishita Y, Tokuzawa Y, Assouline Z, Rio M, Feillet F, de Camaret BMousson, Chretien D, Munnich A, Menten B, Sante T, Smet J, Régal L, Lorber A, Khoury A, Zeviani M, Strom TM, Meitinger T, Bertini ES, Van Coster R, Klopstock T, Rötig A, Haack TB, Minczuk MA & Prokisch H (2014) Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy. Am J Hum Genet 95, 708-20
Dallabona C, Diodato D, Kevelam SH, Haack TB, Wong L-J, Salomons GS, Baruffini E, Melchionda L, Mariotti C, Strom TM, Meitinger T, Prokisch H, Chapman K, Colley A, Rocha H, Ounap K, Schiffmann R, Salsano E, Savoiardo M, Hamilton EM, Abbink TEM, Wolf NI, Ferrero I, Lamperti C, Zeviani M, Vanderver A, Ghezzi D & van der Knaap MS (2014) Novel (ovario) leukodystrophy related to AARS2 mutations. Neurology 82, 2063-71
Alavian KN, Beutner G, Lazrove E, Sacchetti S, Park H-A, Licznerski P, Li H, Nabili P, Hockensmith K, Graham M, Porter GA & Jonas EA (2014) An uncoupling channel within the c-subunit ring of the F1FO ATP synthase is the mitochondrial permeability transition pore. Proc Natl Acad Sci U S A 111, 10580-5

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