Publications

Found 1946 results
2018
Harborne SPD & Kunji ERS (2018) Calcium-regulated mitochondrial ATP-Mg/P carriers evolved from a fusion of an EF-hand regulatory domain with a mitochondrial ADP/ATP carrier-like domain. IUBMB Life 70, 1222-1232
Duncan AL, Ruprecht JJ, Kunji ERS & Robinson AJ (2018) Cardiolipin dynamics and binding to conserved residues in the mitochondrial ADP/ATP carrier. Biochim Biophys Acta 1860, 1035-1045
Keogh MJ, Steele HE & Chinnery PF (2018) Cardiovascular Genetics and GenomicsMitochondrial Cardiovascular Diseases (Kumar D, and Elliott Peds.), Springer International Publishing, Cham
James AM, Smith CL, Smith AC, Robinson AJ, Hoogewijs K & Murphy MP (2018) The Causes and Consequences of Nonenzymatic Protein Acylation. Trends Biochem Sci
Sharma S, Singh P, Fernandez-Vizarra E, Zeviani M, van der Knaap MS & Saran RKumar (2018) Cavitating Leukoencephalopathy With Posterior Predominance Caused by a Deletion in the APOPT1 Gene in an Indian Boy. J Child Neurol 33, 428-431
Walker JE (2018) in Mechanisms of Primary Energy Transduction in Biology Mechanisms of Primary Energy Transduction in Biology pp. 338-373, The Royal Society of Chemistry
Lovero D, Giordano L, Marsano RMassimilia, Sanchez-Martinez A, Boukhatmi H, Drechsler M, Oliva M, Whitworth AJ, Porcelli D & Caggese C (2018) Characterization of Drosophila ATPsynC mutants as a new model of mitochondrial ATP synthase disorders. PLoS One 13, e0201811
Rossman MJ, Santos-Parker JR, Steward CAC, Bispham NZ, Cuevas LM, Rosenberg HL, Woodward KA, Chonchol M, Gioscia-Ryan RA, Murphy MP & Seals DR (2018) Chronic Supplementation With a Mitochondrial Antioxidant (MitoQ) Improves Vascular Function in Healthy Older Adults. Hypertension
Repp BM, Mastantuono E, Alston CL, Schiff M, Haack TB, Rötig A, Ardissone A, Lombes A, Catarino CB, Diodato D, Schottmann G, Poulton J, Burlina A, Jonckheere A, Munnich A, Rolinski B, Ghezzi D, Rokicki D, Wellesley D, Martinelli D, Wenhong D, Lamantea E, Ostergaard E, Pronicka E, Pierre G, Smeets HJM, Wittig I, Scurr I, de Coo IFM, Moroni I, Smet J, Mayr JA, Dai L, De Meirleir L, Schuelke M, Zeviani M, Morscher RJ, McFarland R, Seneca S, Klopstock T, Meitinger T, Wieland T, Strom TM, Herberg U, Ahting U, Sperl W, Nassogne M-C, Ling H, Fang F, Freisinger P, Van Coster R, Strecker V, Taylor RW, Häberle J, Vockley J, Prokisch H & Wortmann S (2018) Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?. Orphanet J Rare Dis 13, 120
Jurkute N, Majander A, Bowman R, Votruba M, Abbs S, Acheson J, Lenaers G, Amati-Bonneau P, Moosajee M, Arno G & Yu-Wai-Man P (2018) Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches. Eur J Hum Genet
Jalloh I, Helmy A, Howe D, Shannon RJ, Grice P, Mason A, Gallagher CN, Murphy MP, Pickard J, Menon D, Carpenter TAdrian, Hutchinson PJohn & Carpenter K (2018) A comparison of oxidative lactate metabolism in traumatically injured brain and control brain. J Neurotrauma
Catania A, Ardissone A, Verrigni D, Legati A, Reyes A, Lamantea E, Diodato D, Tonduti D, Imperatore V, Pinto AMaria, Moroni I, Bertini E, Robinson AJ, Carrozzo R, Zeviani M & Ghezzi D (2018) Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis. J Hum Genet 63, 563-568
King MS, Crichton PG, Ruprecht JJ & Kunji ERS (2018) Concerns with yeast mitochondrial ADP/ATP carrier's integrity in DPC. Nat Struct Mol Biol 25, 747-749
Robb EL, Hall AR, Prime TA, Eaton S, Szibor M, Viscomi C, James AM & Murphy MP (2018) Control of mitochondrial superoxide production by reverse electron transport at complex I. J Biol Chem 293, 9869-9879
Wei W, Gomez-Duran A, Hudson G & Chinnery PF (2018) Correction: Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations. PLoS Genet 14, e1007364
Agip A-NA, Blaza JN, Bridges HR, Viscomi C, Rawson S, Muench SP & Hirst J (2018) Cryo-EM structures of complex I from mouse heart mitochondria in two biochemically defined states. Nat Struct Mol Biol 25, 548-556
Ito Y, Carss KJ, Duarte ST, Hartley T, Keren B, Kurian MA, Marey I, Charles P, Mendonça C, Nava C, Pfundt R, Sanchis-Juan A, van Bokhoven H, van Essen A, van Ravenswaaij-Arts C, Boycott KM, Kernohan KD, Dyack S & F Raymond L (2018) De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures. Am J Hum Genet 103, 144-153
Varghese F, Blaza JN, J Y Jones A, Jarman OD & Hirst J (2018) Deleting the IF-likesubunit fromATP synthase is not sufficient to activate ATP hydrolysis. Open Biol 8
McCann BJ, Cox A, Gammage PA, Stewart JB, Zernicka-Goetz M & Minczuk MA (2018) Delivery of mtZFNs into Early Mouse Embryos. Methods Mol Biol 1867, 215-228
Stovell MG, Mada MO, Helmy A, T Carpenter A, Thelin EP, Yan J-L, Guilfoyle MR, Jalloh I, Howe DJ, Grice P, Mason A, Giorgi-Coll S, Gallagher CN, Murphy MP, Menon DK, Hutchinson PJ & Carpenter KLH (2018) The effect of succinate on brain NADH/NAD redox state and high energy phosphate metabolism in acute traumatic brain injury. Sci Rep 8, 11140
Gammage PA & Minczuk MA (2018) Enhanced Manipulation of Human Mitochondrial DNA Heteroplasmy In Vitro Using Tunable mtZFN Technology. Methods Mol Biol 1867, 43-56
King MS, Thompson K, Hopton S, He L, Kunji ERS, Taylor RW & Ortiz-Gonzalez XR (2018) Expanding the phenotype of de novo -linked mitochondrial disease to include mild myopathy. Neurol Genet 4, e256
Widdrington JD, Gomez-Duran A, Pyle A, Ruchaud-Sparagano M-H, Scott J, Baudouin SV, Rostron AJ, Lovat PE, Chinnery PF & A Simpson J (2018) Exposure of Monocytic Cells to Lipopolysaccharide Induces Coordinated Endotoxin Tolerance, Mitochondrial Biogenesis, Mitophagy, and Antioxidant Defenses. Front Immunol 9, 2217
Gahura O, Šubrtová K, Váchová H, Panicucci B, Fearnley IM, Harbour ME, Walker JE & Zíková A (2018) The F -ATPase from Trypanosoma brucei is elaborated by three copies of an additional p18-subunit. FEBS J 285, 614-628
F Raymond L, Horvath R & Chinnery PF (2018) First-line genomic diagnosis of mitochondrial disorders. Nat Rev Genet 19, 399-400

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