Publications

Found 1895 results
2017
Murphy MP (2017) Chemical biology of mitochondria. Interface Focus 7, 20170003
Majander A, Bowman R, Poulton J, Antcliff RJ, M Reddy A, Michaelides M, Webster AR, Chinnery PF, Votruba M, Moore AT & Yu-Wai-Man P (2017) Childhood-onset Leber hereditary optic neuropathy. Br J Ophthalmol 101, 1505-1509
Hoogewijs K, James AM, Smith RAJ, Abendroth F, Gait MJ, Murphy MP & Lightowlers RN (2017) ClickIn: a flexible protocol for quantifying mitochondrial uptake of nucleobase derivatives. Interface Focus 7, 20160117
van Leeuwen LAG, Hinchy EC, Murphy MP, Robb EL & Cochemé HM (2017) Click-PEGylation - A mobility shift approach to assess the redox state of cysteines in candidate proteins. Free Radic Biol Med 108, 374-382
Manole A, Jaunmuktane Z, Hargreaves I, Ludtmann MHR, Salpietro V, Bello OD, Pope S, Pandraud A, Horga A, Scalco RS, Li A, Ashokkumar B, Lourenço CM, Heales S, Horvath R, Chinnery PF, Toro C, Singleton AB, Jacques TS, Abramov AY, Muntoni F, Hanna MG, Reilly MM, Revesz T, Kullmann DM, Jepson JEC & Houlden H (2017) Clinical, pathological and functional characterization of riboflavin-responsive neuropathy. Brain 140, 2820-2837
Bugiardini E, Poole OV, Manole A, Pittman AM, Horga A, Hargreaves I, Woodward CE, Sweeney MG, Holton JL, Taanman J-W, Plant GT, Poulton J, Zeviani M, Ghezzi D, Taylor J, Smith C, Fratter C, Kanikannan MA, Paramasivam A, Thangaraj K, Spinazzola A, Holt IJ, Houlden H, Hanna MG & Pitceathly RDS (2017) Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease. Neurol Genet 3, e149
Karaa A, Rahman S, Lombes A, Yu-Wai-Man P, Sheikh MK, Alai-Hansen S, Cohen BH, Dimmock D, Emrick L, Falk MJ, McCormack S, Mirsky D, Moore T, Parikh S, Shoffner J, Taivassalo T, Tarnopolsky M, Tein I, Odenkirchen JC & Goldstein A (2017) Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project. J Inherit Metab Dis 40, 403-414
Fedor JG, J Y Jones A, Di Luca A, Kaila VRI & Hirst J (2017) Correlating kinetic and structural data on ubiquinone binding and reduction by respiratory complex I. Proc Natl Acad Sci U S A
Latorre-Pellicer A, Moreno-Loshuertos R, Lechuga-Vieco AVictoria, Sánchez-Cabo F, Torroja C, Acín-Pérez R, Calvo E, Aix E, González-Guerra A, Logan A, Bernad-Miana MLuisa, Romanos E, Cruz R, Cogliati S, Sobrino B, Carracedo Á, Pérez-Martos A, Fernández-Silva P, Ruíz-Cabello J, Murphy MP, Flores I, Vázquez J & Enríquez JAntonio (2017) Corrigendum: Mitochondrial and nuclear DNA matching shapes metabolism and healthy ageing. Nature 542, 124
Sommerville EW, Alston CL, Pyle A, He L, Falkous G, Naismith K, Chinnery PF, McFarland R & Taylor RW (2017) De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities. Neurol Genet 3, e187
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
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

Pages