Publications

Found 2072 results
2017
Van Haute L, Powell CA & Minczuk MA (2017) Dealing with an Unconventional Genetic Code in  Mitochondria: The Biogenesis and Pathogenic  Defects of the 5-Formylcytosine Modification in  Mitochondrial tRNA(Met). Biomolecules 7
Garone C, D'Souza AR, Dallabona C, Lodi T, Rebelo-Guiomar P, Rorbach J, Donati MAlice, Procopio E, Montomoli M, Guerrini R, Zeviani M, Calvo SE, Mootha VK, DiMauro S, Ferrero I & Minczuk MA (2017) Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome. Hum Mol Genet 26, 4257-4266
Lopez-Gomez C, Levy RJ, Sanchez-Quintero MJ, Juanola-Falgarona M, Barca E, Garcia-Diaz B, Tadesse S, Garone C & Hirano M (2017) Deoxycytidine and Deoxythymidine Treatment for Thymidine Kinase 2 Deficiency. Ann Neurol 81, 641-652
Profilo E, Peña-Altamira LEmiliano, Corricelli M, Castegna A, Danese A, Agrimi G, Petralla S, Giannuzzi G, Porcelli V, Sbano L, Viscomi C, Massenzio F, Palmieri EMariana, Giorgi C, Fiermonte G, Virgili M, Palmieri L, Zeviani M, Pinton P, Monti B, Palmieri F & Lasorsa FMassimo (2017) Down-regulation of the mitochondrial aspartate-glutamate carrier isoform 1 AGC1 inhibits proliferation and N-acetylaspartate synthesis in Neuro2A cells. Biochim Biophys Acta 1863, 1422-1435
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
Horvath R & Chinnery PF (2017) The Effect of Neurological Genomics and Personalized Mitochondrial Medicine. JAMA Neurol 74, 11-13
Khalil B, Cabirol-Pol M-J, Miguel L, Whitworth AJ, Lecourtois M & Liévens J-C (2017) Enhancing Mitofusin/Marf ameliorates neuromuscular dysfunction in Drosophila models of TDP-43 proteinopathies. Neurobiol Aging 54, 71-83
Milenkovic D, Blaza JN, Larsson N-G & Hirst J (2017) The Enigma of the Respiratory Chain Supercomplex. Cell Metab 25, 765-776
Wei W, Keogh MJ, Wilson I, Coxhead J, Ryan S, Rollinson S, Griffin H, Kurzawa-Akanbi M, Santibanez-Koref M, Talbot K, Turner MR, McKenzie C-A, Troakes C, Attems J, Smith C, Sarraj SAl, Morris CM, Ansorge O, Pickering-Brown S, Ironside JW & Chinnery PF (2017) Erratum to: Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains. Acta Neuropathol Commun 5, 17
Lytovchenko O & Kunji ERS (2017) Expression and putative role of mitochondrial transport proteins in cancer. Biochim Biophys Acta 1858, 641-654
Jalloh I, Helmy A, Howe DJ, Shannon RJ, Grice P, Mason A, Gallagher CN, Stovell MG, van der Heide S, Murphy MP, Pickard JD, Menon DK, T Carpenter A, Hutchinson PJ & Carpenter KLh (2017) Focally perfused succinate potentiates brain metabolism in head injury patients. J Cereb Blood Flow Metab 37, 2626-2638
Tyrakis PA, Yurkovich ME, Sciacovelli M, Papachristou EK, Bridges HR, Gaude E, Schreiner A, D'Santos C, Hirst J, Hernandez-Fernaud J, Springett R, Griffiths JR & Frezza C (2017) Fumarate Hydratase Loss Causes Combined Respiratory Chain Defects. Cell Rep 21, 1036-1047
Liao Y, Dong Y & Cheng J (2017) The Function of the Mitochondrial Calcium Uniporter in Neurodegenerative Disorders. Int J Mol Sci 18
Keogh MJ, Wei W, Wilson I, Coxhead J, Ryan S, Rollinson S, Griffin H, Kurzawa-Akanbi M, Santibanez-Koref M, Talbot K, Turner MR, McKenzie C-A, Troakes C, Attems J, Smith C, Sarraj SAl, Morris CM, Ansorge O, Pickering-Brown S, Ironside JW & Chinnery PF (2017) Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource. Genome Res 27, 165-173
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
Witoelar A, Jansen IE, Wang Y, Desikan RS, J Gibbs R, Blauwendraat C, Thompson WK, Hernandez DG, Djurovic S, Schork AJ, Bettella F, Ellinghaus D, Franke A, Lie BA, McEvoy LK, Karlsen TH, Lesage S, Morris HR, Brice A, Wood NW, Heutink P, Hardy J, Singleton AB, Dale AM, Gasser T, Andreassen OA & Sharma M (2017) Genome-wide Pleiotropy Between Parkinson Disease and Autoimmune Diseases. JAMA Neurol 74, 780-792
Connolly NMC, Theurey P, Adam-Vizi V, Bazan NG, Bernardi P, Bolaños JP, Culmsee C, Dawson VL, Deshmukh M, Duchen MR, Düssmann H, Fiskum G, Galindo MF, Hardingham GE, J Hardwick M, Jekabsons MB, Jonas EA, Jordán J, Lipton SA, Manfredi G, Mattson MP, McLaughlin BA, Methner A, Murphy AN, Murphy MP, Nicholls DG, Polster BM, Pozzan T, Rizzuto R, Satrústegui J, Slack RS, Swanson RA, Swerdlow RH, Will Y, Ying Z, Joselin A, Gioran A, Pinho CMoreira, Watters O, Salvucci M, Llorente-Folch I, Park DS, Bano D, Ankarcrona M, Pizzo P & Prehn JHM (2017) Guidelines on experimental methods to assess mitochondrial dysfunction in cellular models of neurodegenerative diseases. Cell Death Differ
Chichagova V, Hallam D, Collin J, Buskin A, Saretzki G, Armstrong L, Yu-Wai-Man P, Lako M & Steel DH (2017) Human iPSC disease modelling reveals functional and structural defects in retinal pigment epithelial cells harbouring the m.3243A > G mitochondrial DNA mutation. Sci Rep 7, 12320
Rhein VF, Carroll J, Ding S, Fearnley IM & Walker JE (2017) Human METTL12 is a mitochondrial methyltransferase that modifies citrate synthase. FEBS Lett 591, 1641-1652
Chrzanowska-Lightowlers Z, Rorbach J & Minczuk MA (2017) Human mitochondrial ribosomes can switch structural tRNAs - but when and why?. RNA Biol
Köhler S, Vasilevsky NA, Engelstad M, Foster E, McMurry J, Aymé S, Baynam G, Bello SM, Boerkoel CF, Boycott KM, Brudno M, Buske OJ, Chinnery PF, Cipriani V, Connell LE, Dawkins HJS, DeMare LE, Devereau AD, de Vries BBA, Firth HV, Freson K, Greene D, Hamosh A, Helbig I, Hum C, Jähn JA, James R, Krause R, Laulederkind SJF, Lochmüller H, Lyon GJ, Ogishima S, Olry A, Ouwehand WH, Pontikos N, Rath A, Schaefer F, Scott RH, Segal M, Sergouniotis PI, Sever R, Smith CL, Straub V, Thompson R, Turner C, Turro E, Veltman MWM, Vulliamy T, Yu J, von Ziegenweidt J, Zankl A, Zuchner S, Zemojtel T, Jacobsen JOB, Groza T, Smedley D, Mungall CJ, Haendel M & Robinson PN (2017) The Human Phenotype Ontology in 2017. Nucleic Acids Res 45, D865-D876
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
Chouchani ET, James AM, Methner C, Pell VR, Prime TA, Erikson BK, Forkink M, Lau GY, Bright TP, Menger KE, Fearnley IM, Krieg T & Murphy MP (2017) Identification and Quantification of Protein S-nitrosation by Nitrite in the Mouse Heart during Ischemia. J Biol Chem
Mühleip AW, Dewar CE, Schnaufer A, Kühlbrandt W & Davies KM (2017) In situ structure of trypanosomal ATP synthase dimer reveals a unique arrangement of catalytic subunits. Proc Natl Acad Sci U S A 114, 992-997
Liu JC, Parks RJ, Liu J, Stares J, Rovira II, Murphy E & Finkel T (2017) The In Vivo Biology of the Mitochondrial Calcium Uniporter. Adv Exp Med Biol 982, 49-63

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