Publications

Found 1711 results
2018
Buffin S, Ikhelef N, Prudent J, Dubayle J, Nougarede N, Varenne M-P, Moste C & Legastelois I (2018) A latex agglutination assay to quantify the amount of hemagglutinin protein in adjuvanted low-dose influenza monovalent vaccines. J Virol Methods 251, 46-53
Majd H, King MS, Smith AC & Kunji ERS (2018) Pathogenic mutations of the human mitochondrial citrate carrier SLC25A1 lead to impaired citrate export required for lipid, dolichol, ubiquinone and sterol synthesis. Biochim Biophys Acta 1859, 1-7
2017
Di Meo I, Marchet S, Lamperti C, Zeviani M & Viscomi C (2017) AAV9-based gene therapy partially ameliorates the clinical phenotype of a mouse model of Leigh syndrome. Gene Ther
Moss CF, Rosa IDalla, Hunt LE, Yasukawa T, Young R, Jones AWE, Reddy K, Desai R, Virtue S, Elgar G, Voshol P, Taylor MS, Holt IJ, Reijns MAM & Spinazzola A (2017) Aberrant ribonucleotide incorporation and multiple deletions in mitochondrial DNA of the murine MPV17 disease model. Nucleic Acids Res
Park S-Y, Kwon OSung, Andtbacka RHI, Hyngstrom JR, Reese V, Murphy MP & Richardson RS (2017) Age-related endothelial dysfunction in human skeletal muscle feed arteries: The role of free radicals derived from mitochondria in the vasculature. Acta Physiol (Oxf)
Wang Z, Fan G, Hryc CF, Blaza JN, Serysheva II, Schmid MF, Chiu W, Luisi BF & Du D (2017) An allosteric transport mechanism for the AcrAB-TolC multidrug efflux pump. Elife 6
Ritchie DL, Adlard P, Peden AH, Lowrie S, Le Grice M, Burns K, Jackson RJ, Yull H, Keogh MJ, Wei W, Chinnery PF, Head MW & Ironside JW (2017) Amyloid-β accumulation in the CNS in human growth hormone recipients in the UK. Acta Neuropathol
Arndt S, Baeza-Garza CD, Logan A, Rosa T, Wedmann R, Prime TA, Martin JL, Saeb-Parsy K, Krieg T, Filipovic MR, Hartley RC & Murphy MP (2017) Assessment of H2S in vivo using the newly developed mitochondria-targeted mass spectrometry probe MitoA. J Biol Chem 292, 7761-7773
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
Giorgio V, Burchell V, Schiavone M, Bassot C, Minervini G, Petronilli V, Argenton F, Forte M, Tosatto S, Lippe G & Bernardi P (2017) Ca(2+) binding to F-ATP synthase β subunit triggers the mitochondrial permeability transition. EMBO Rep 18, 1065-1076
Giorgio V, Guo L, Bassot C, Petronilli V & Bernardi P (2017) Calcium and regulation of the mitochondrial permeability transition. Cell Calcium
Harborne SPD, King MS, Crichton PG & Kunji ERS (2017) Calcium regulation of the human mitochondrial ATP-Mg/Pi carrier SLC25A24 uses a locking pin mechanism. Sci Rep 7, 45383
Frankenreiter S, Bednarczyk P, Kniess A, Bork N, Straubinger J, Koprowski P, Wrzosek A, Mohr E, Logan A, Murphy MP, Gawaz M, Krieg T, Szewczyk A, Nikolaev VO, Ruth P & Lukowski R (2017) cGMP-Elevating Compounds and Ischemic Conditioning Provide Cardioprotection Against Ischemia and Reperfusion Injury via Cardiomyocyte-Specific BK Channels. Circulation
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

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