Unit publications

2019

• Jurkute N, Leu C, Pogoda H-M, Arno G, Robson AG, Nürnberg G, Altmüller J, Thiele H, Motameny S, Toliat MReza, Powell K, Höhne W, Michaelides M, Webster AR, Moore AT, Hammerschmidt M, Nürnberg P, Yu-Wai-Man P & Votruba M (2019) SSBP1 mutations in dominant optic atrophy with variable retinal degeneration. Ann Neurol
• Gammage PA & Frezza C (2019) Mitochondrial DNA: the overlooked oncogenome?. BMC Biol 17, 53
• Lim PJin, Duarte TL, Arezes J, Garcia-Santos D, Hamdi A, Pasricha S-R, Armitage AE, Mehta H, Wideman S, Santos AG, Santos-Gonçalves A, Morovat A, Hughes JR, Soilleux E, Wang C-Y, Bayer AL, Klenerman P, Willberg CB, Hartley RC, Murphy MP, Babitt JL, Ponka P, Porto G & Drakesmith H (2019) Nrf2 controls iron homeostasis in haemochromatosis and thalassaemia via Bmp6 and hepcidin. Nat Metab 1, 519-531
• Petri J, Nakatani Y, Montgomery MG, Ferguson SA, Aragão D, Leslie AGW, Heikal A, Walker JE & Cook GM (2019) Structure of F-ATPase from the obligate anaerobe Fusobacterium nucleatum. Open Biol 9, 190066
• Ng YShiau, Martikainen MH, Gorman GS, Blain A, Bugiardini E, Bunting A, Schaefer AM, Alston CL, Blakely EL, Sharma S, Hughes I, Lim A, de Goede C, McEntagart M, Spinty S, Horrocks I, Roberts M, Woodward CE, Chinnery PF, Horvath R, Nesbitt V, Fratter C, Poulton J, Hanna MG, Pitceathly RDS, Taylor RW, Turnbull DM & McFarland R (2019) Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study. Ann Neurol
• Domínguez-González C, Madruga-Garrido M, Mavillard F, Garone C, Aguirre-Rodríguez FJavier, M Donati A, Kleinsteuber K, Martí I, Martín-Hernández E, Morealejo-Aycinena JP, Munell F, Nascimento A, Kalko SG, M Sardina D, Del Vayo CÁlvarez, Serrano O, Long Y, Tu Y, Levin B, Thompson JLP, Engelstad K, Uddin J, Torres-Torronteras J, Jimenez-Mallebrera C, Martí R, Paradas C & Hirano M (2019) Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy. Ann Neurol
• Wei W, Tuna S, Keogh MJ, Smith KR, Aitman TJ, Beales PL, Bennett DL, Gale DP, Bitner-Glindzicz MAK, Black GC, Brennan P, Elliott P, Flinter FA, R Floto A, Houlden H, Irving M, Koziell A, Maher ER, Markus HS, Morrell NW, Newman WG, Roberts I, Sayer JA, Smith KGC, Taylor JC, Watkins H, Webster AR, Wilkie AOM, Williamson C, Ashford S, Penkett CJ, Stirrups KE, Rendon A, Ouwehand WH, Bradley JR, F Raymond L, Caulfield M, Turro E & Chinnery PF (2019) Germline selection shapes human mitochondrial DNA diversity. Science 364
• Lau GY, Barts N, Hartley RC, Tobler M, Richards JG, Murphy MP & Arndt S (2019) Detection of changes in mitochondrial hydrogen sulfide in the fish model (Poeciliidae). Biol Open 8
• Boreikaite V, Wicky BIM, Watt IN, Clarke J & Walker JE (2019) Extrinsic conditions influence the self-association and structure of IF, the regulatory protein of mitochondrial ATP synthase. Proc Natl Acad Sci U S A 116, 10354-10359
• Saoura M, Powell CA, Kopajtich R, Alahmad A, Al-Balool HH, Albash B, Alfadhel M, Alston CL, Bertini E, Bonnen PE, Bratkovic D, Carrozzo R, Donati MA, Di Nottia M, Ghezzi D, Goldstein A, Haan E, Horvath R, Hughes J, Invernizzi F, Lamantea E, Lucas B, Pinnock K-G, Pujantell M, Rahman S, Rebelo-Guiomar P, Santra S, Verrigni D, McFarland R, Prokisch H, Taylor RW, Levinger L & Minczuk M (2019) Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing. Hum Mutat