Publications

Found 1969 results
2017
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
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
Mancuso M, McFarland R, Klopstock T & Hirano M (2017) International Workshop:: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16-18 November 2016, Rome, Italy. Neuromuscul Disord 27, 1126-1137
Nesci S, Trombetti F, Ventrella V, Pirini M & Pagliarani A (2017) Kinetic properties of the mitochondrial F1FO-ATPase activity elicited by Ca(2+) in replacement of Mg(2). Biochimie 140, 73-81
Oliveira R, Sommerville EW, Thompson K, Nunes J, Pyle A, Grazina M, Chinnery PF, Diogo L, Garcia P & Taylor RW (2017) Lethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological Features. JIMD Rep 33, 61-68
Torres-Torronteras J, Cabrera-Pérez R, Vila-Julia F, Viscomi C, Cámara Y, Hirano M, Zeviani M & Martí R (2017) Long-term sustained effect of liver-targeted AAV gene therapy for MNGIE. Hum Gene Ther
Patel D, Rorbach J, Downes K, Szukszto MJ, Pekalski ML & Minczuk MA (2017) Macropinocytic entry of isolated mitochondria in epidermal growth factor-activated human osteosarcoma cells. Sci Rep 7, 12886
Newman NJ, Yu-Wai-Man P, Sadun AA, Karanjia R & Carelli V (2017) Management of ophthalmologic manifestations of mitochondrial diseases. Genet Med 19
Pearce SF, Rorbach J, Van Haute L, D'Souza AR, Rebelo-Guiomar P, Powell CA, Brierley I, Firth AE & Minczuk MA (2017) Maturation of selected human mitochondrial tRNAs requires deadenylation. Elife 6
Blaza JN, Bridges HR, Aragão D, Dunn EA, Heikal A, Cook GM, Nakatani Y & Hirst J (2017) The mechanism of catalysis by type-II NADH:quinone oxidoreductases. Sci Rep 7, 40165
Hewitt VL & Whitworth AJ (2017) Mechanisms of Parkinson's Disease: Lessons from Drosophila. Curr Top Dev Biol 121, 173-200

Pages