Publications

Found 1937 results
2018
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
Wei W, Keogh MJ, Aryaman J, Golder Z, Kullar PJ, Wilson I, Talbot K, Turner MR, McKenzie C-A, Troakes C, Attems J, Smith C, Sarraj SAl, Morris CM, Ansorge O, Jones NS, Ironside JW & Chinnery PF (2018) Frequency and signature of somatic variants in 1461 human brain exomes. Genet Med
Gammage PA, Viscomi C, Simard M-L, Costa ASH, Gaude E, Powell CA, Van Haute L, McCann BJ, Rebelo-Guiomar P, Cerutti R, Zhang L, Rebar EJ, Zeviani M, Frezza C, Stewart JB & Minczuk MA (2018) Genome editing in mitochondria corrects a pathogenic mtDNA mutation in vivo. Nat Med 24, 1691-1695
Gallipoli P, Giotopoulos G, Tzelepis K, Costa ASH, Vohra S, Medina-Perez P, Basheer F, Marando L, Di Lisio L, Dias JML, Yun H, Sasca D, Horton SJ, Vassiliou G, Frezza C & Huntly BJP (2018) Glutaminolysis is a metabolic dependency in FLT3 acute myeloid leukemia unmasked by FLT3 tyrosine kinase inhibition. Blood 131, 1639-1653
Secinaro MA, Fortner KA, Dienz O, Logan A, Murphy MP, Anathy V, Boyson JE & Budd RC (2018) Glycolysis promotes caspase-3 activation in lipid rafts in T cells. Cell Death Dis 9, 62
Kullar PJ, Gomez-Duran A, Gammage PA, Garone C, Minczuk M, Golder Z, Wilson J, Montoya J, Häkli S, Kärppä M, Horvath R, Majamaa K & Chinnery PF (2018) Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family. Brain 141, 55-62
Keogh MJ, Wei W, Aryaman J, Walker L, van den Ameele J, Coxhead J, Wilson I, Bashton M, Beck J, West J, Chen R, Haudenschild C, Bartha G, Luo S, Morris CM, Jones NS, Attems J & Chinnery PF (2018) High prevalence of focal and multi-focal somatic genetic variants in the human brain. Nat Commun 9, 4257
Srivastava AP, Luo M, Zhou W, Symersky J, Bai D, Chambers MG, Faraldo-Gómez JD, Liao M & Mueller DM (2018) High-resolution cryo-EM analysis of the yeast ATP synthase in a lipid membrane. Science 360
Kurauskas V, Hessel A, Ma P, Lunetti P, Weinhäupl K, Imbert L, Brutscher B, King MS, Sounier R, Dolce V, Kunji ERS, Capobianco L, Chipot C, Dehez F, Bersch B & Schanda P (2018) How Detergent Impacts Membrane Proteins: Atomic-Level Views of Mitochondrial Carriers in Dodecylphosphocholine. J Phys Chem Lett 9, 933-938
Ghezzi D & Zeviani M (2018) Human diseases associated with defects in assembly of OXPHOS complexes. Essays Biochem 62, 271-286

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