Found 1958 results
Farmery JHR, Smith ML & Lynch AG (2018) Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data. Sci Rep 8, 1300
Lee YJ, Jonson PHarald, Sarparanta J, Palmio J, Sarkar M, Vihola A, Evilä A, Suominen T, Penttilä S, Savarese M, Johari M, Minot M-C, Hilton-Jones D, Maddison P, Chinnery P, Reimann J, Kornblum C, Kraya T, Zierz S, Sue C, Goebel H, Azfer A, Ralston SH, Hackman P, Bucelli RC, J. Taylor P, Weihl CC & Udd B (2018) TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations. Journal of Clinical Investigation 128, 1164 - 1177
Nicholls TJ, Nadalutti CA, Motori E, Sommerville EW, Gorman GS, Basu S, Hoberg E, Turnbull DM, Chinnery PF, Larsson N-G, Larsson E, Falkenberg M, Taylor RW, Griffith JD & Gustafsson CM (2018) Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA. Mol Cell 69, 9-23.e6
Garone C & Viscomi C (2018) Towards a therapy for mitochondrial disease: an update. Biochem Soc Trans 46, 1247-1261
Cluett TJ, Akman G, Reyes A, Kazak L, Mitchell A, Wood SR, Spinazzola A, Spelbrink JN & Holt IJ (2018) Transcript availability dictates the balance between strand-asynchronous and strand-coupled mitochondrial DNA replication. Nucleic Acids Res 46, 10771-10781
Dean P, Sendra KM, Williams TA, Watson AK, Major P, Nakjang S, Kozhevnikova E, Goldberg AV, Kunji ERS, Hirt RP & Embley TM (2018) Transporter gene acquisition and innovation in the evolution of Microsporidia intracellular parasites. Nat Commun 9, 1709
Al-Behadili A, Uhler JP, Berglund A-K, Peter B, Doimo M, Reyes A, Wanrooij S, Zeviani M & Falkenberg M (2018) A two-nuclease pathway involving RNase H1 is required for primer removal at human mitochondrial OriL. Nucleic Acids Res
Iommarini L, Ghelli A, Tropeano CValentina, Kurelac I, Leone G, Vidoni S, Lombes A, Zeviani M, Gasparre G & Porcelli AMaria (2018) Unravelling the Effects of the Mutation m.3571insC/MT-ND1 on Respiratory Complexes Structural Organization. Int J Mol Sci 19
de Brouwer APM, Jamra RAbou, Körtel N, Soyris C, Polla DL, Safra M, Zisso A, Powell CA, Rebelo-Guiomar P, Dinges N, Morin V, Stock M, Hussain M, Shahzad M, Riazuddin S, Ahmed ZM, Pfundt R, Schwarz F, de Boer L, Reis A, Grozeva D, F Raymond L, Riazuddin S, Koolen DA, Minczuk MA, Roignant J-Y, van Bokhoven H & Schwartz S (2018) Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior. Am J Hum Genet 103, 1045-1052
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
Guo H, Bueler SA & Rubinstein JL (2017) Atomic model for the dimeric F region of mitochondrial ATP synthase. Science 358, 936-940
Wei W, Gomez-Duran A, Hudson G & Chinnery PF (2017) Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations. PLoS Genet 13, e1007126
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
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