Publications

Found 1958 results
2019
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
Segel M, Neumann B, Hill MFE, Weber IP, Viscomi C, Zhao C, Young A, Agley CC, Thompson AJ, Gonzalez GA, Sharma A, Holmqvist S, Rowitch DH, Franze K, Franklin RJM & Chalut KJ (2019) Niche stiffness underlies the ageing of central nervous system progenitor cells. Nature
van der Lee SJ, Conway OJ, Jansen I, Carrasquillo MM, Kleineidam L, van den Akker E, Hernández I, van Eijk KR, Stringa N, Chen JA, Zettergren A, Andlauer TFM, Diez-Fairen M, Simon-Sanchez J, Lleó A, Zetterberg H, Nygaard M, Blauwendraat C, Savage JE, Mengel-From J, Moreno-Grau S, Wagner M, Fortea J, Keogh MJ, Blennow K, Skoog I, Friese MA, Pletnikova O, Zulaica M, Lage C, de Rojas I, Riedel-Heller S, Illán-Gala I, Wei W, Jeune B, Orellana A, Bergh FThen, Wang X, Hulsman M, Beker N, Tesi N, Morris CM, Indakoetxea B, Collij LE, Scherer M, Morenas-Rodríguez E, Ironside JW, van Berckel BNM, Alcolea D, Wiendl H, Strickland SL, Pastor P, Rodríguez ERodríguez, Boeve BF, Petersen RC, Ferman TJ, van Gerpen JA, Reinders MJT, Uitti RJ, Tárraga L, Maier W, Dols-Icardo O, Kawalia A, Dalmasso MCarolina, Boada M, Zettl UK, van Schoor NM, Beekman M, Allen M, Masliah E, de Munain ALópez, Pantelyat A, Wszolek ZK, Ross OA, Dickson DW, Graff-Radford NR, Knopman D, Rademakers R, Lemstra AW, Pijnenburg YAL, Scheltens P, Gasser T, Chinnery PF, Hemmer B, Huisman MA, Troncoso J, Moreno F, Nohr EA, Sørensen TIA, Heutink P, Sánchez-Juan P, Posthuma D, Clarimón J, Christensen K, Ertekin-Taner N, Scholz SW, Ramirez A, Ruiz A, Slagboom E, van der Flier WM & Holstege H (2019) A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity. Acta Neuropathol
Protasoni M, Bruno C, Donati MAlice, Mohamoud K, Severino M, Allegri A, Robinson AJ, Reyes A, Zeviani M & Garone C (2019) Novel compound heterozygous pathogenic variants in nucleotide-binding protein like protein (NUBPL) cause leukoencephalopathy with multi-systemic involvement. Mol Genet Metab
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
Van Haute L, Lee S-Y, McCann BJ, Powell CA, Bansal D, Vasiliauskaitė L, Garone C, Shin S, Kim J-S, Frye M, Gleeson JG, Miska EA, Rhee H-W & Minczuk M (2019) NSUN2 introduces 5-methylcytosines in mammalian mitochondrial tRNAsAbstract. Nucleic Acids Research
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
Carroll J, He J, Ding S, Fearnley IM & Walker JE (2019) Persistence of the permeability transition pore in human mitochondria devoid of an assembled ATP synthase. Proc Natl Acad Sci U S A 116, 12816-12821
Boncompagni S, Pozzer D, Viscomi C, Ferreiro A & Zito E (2019) Physical and Functional Cross Talk Between Endo-Sarcoplasmic Reticulum and Mitochondria in Skeletal Muscle. Antioxid Redox Signal
Kohlhauer M, Pell VR, Burger N, Spiroski AM, Gruszczyk A, Mulvey JF, Mottahedin A, Costa ASH, Frezza C, Ghaleh B, Murphy MP, Tissier R & Krieg T (2019) Protection against cardiac ischemia-reperfusion injury by hypothermia and by inhibition of succinate accumulation and oxidation is additive. Basic Res Cardiol 114, 18
Murphy MP (2019) Rerouting metabolism to activate macrophages. Nat Immunol
Posse V, Al-Behadili A, Uhler JP, Clausen AR, Reyes A, Zeviani M, Falkenberg M & Gustafsson CM (2019) RNase H1 directs origin-specific initiation of DNA replication in human mitochondria. PLoS Genet 15, e1007781
Ching J, Smith SMansfield, Dasgupta B & Damato EMarie (2019) The Role of Vascular uUtrasound in Managing Giant Cell Arteritis in Ophthalmology. Surv Ophthalmol
Murphy BJ, Klusch N, Langer J, Mills DJ, Yildiz Ö & Kühlbrandt W (2019) Rotary substates of mitochondrial ATP synthase reveal the basis of flexible F-F coupling. Science 364
Booty LM, Gawel JM, Cvetko F, Caldwell ST, Hall AR, Mulvey JF, James AM, Hinchy EC, Prime TA, Arndt S, Benincá C, Bright TP, Clatworthy MR, Ferdinand JR, Prag HA, Logan A, Prudent J, Krieg T, Hartley RC & Murphy MP (2019) Selective Disruption of Mitochondrial Thiol Redox State in Cells and In Vivo. Cell Chem Biol 26, 449-461.e8
Burger N, Logan A, Prime TA, Mottahedin A, Caldwell ST, Krieg T, Hartley RC, James AM & Murphy MP (2019) A sensitive mass spectrometric assay for mitochondrial CoQ pool redox state in vivo. Free Radic Biol Med
Ruprecht JJ & Kunji ERS (2019) The SLC25 Mitochondrial Carrier Family: Structure and Mechanism. Trends Biochem Sci
Lau GY, Arndt S, Murphy MP & Richards JG (2019) Species and tissue specific differences in ROS metabolism to hypoxia- and hyperoxia-recovery exposure in marine sculpins. J Exp Biol
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
Ruprecht JJ & Kunji ERS (2019) Structural changes in the transport cycle of the mitochondrial ADP/ATP carrier. Curr Opin Struct Biol 57, 135-144
Guo H, Suzuki T & Rubinstein JL (2019) Structure of a bacterial ATP synthase. Elife 8
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
Park J, Lee S-Y, Jeong H, Kang M-G, Van Haute L, Minczuk M, Seo JKon, Jun Y, Myung K, Rhee H-W & Lee C (2019) The structure of human EXD2 reveals a chimeric 3' to 5' exonuclease domain that discriminates substrates via metal coordination. Nucleic Acids Res 47, 7078-7093
Park J, Lee SY, Jeong H, Kang MG, Van Haute L, Minczuk M, Seo JKon, Jun Y, Myung K, Rhee H-W & Lee C (2019) The structure of human EXD2 reveals a chimeric 3' to 5' exonuclease domain that discriminates substrates via metal coordination. Nucleic Acids Res 47
Zhang AT, Montgomery MG, Leslie AGW, Cook GM & Walker JE (2019) The structure of the catalytic domain of the ATP synthase from Mycobacterium smegmatis is a target for developing antitubercular drugs. Proc Natl Acad Sci U S A

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