Found 988 results
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Thompson K, Majd H, Dallabona C, Reinson K, King MS, Alston CL, He L, Lodi T, Jones SA, Fattal-Valevski A, Fraenkel ND, Saada A, Haham A, Isohanni P, Vara R, Barbosa IA, Simpson MA, Deshpande C, Puusepp S, Bonnen PE, Rodenburg RJ, Suomalainen A, Ounap K, Elpeleg O, Ferrero I, McFarland R, Kunji ERS & Taylor RW (2016) Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number. Am J Hum Genet 99, 860-876
Yu-Wai-Man P, Hudson G, Klopstock T & Chinnery PF (2016) Reply: Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion. Brain 139, e18
Olsen RKJ, Koňaříková E, Giancaspero TA, Mosegaard S, Boczonadi V, Mataković L, Veauville-Merllié A, Terrile C, Schwarzmayr T, Haack TB, Auranen M, Leone P, Galluccio M, Imbard A, Gutierrez-Rios P, Palmfeldt J, Graf E, Vianey-Saban C, Oppenheim M, Schiff M, Pichard S, Rigal O, Pyle A, Chinnery PF, Konstantopoulou V, Möslinger D, Feichtinger RG, Talim B, Topaloglu H, Coskun T, Gucer S, Botta A, Pegoraro E, Malena A, Vergani L, Mazzà D, Zollino M, Ghezzi D, Acquaviva C, Tyni T, Boneh A, Meitinger T, Strom TM, Gregersen N, Mayr JA, Horvath R, Barile M & Prokisch H (2016) Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency. Am J Hum Genet 98, 1130-45
Kunji ERS, Aleksandrova A, King MS, Majd H, Ashton VL, Cerson E, Springett R, Kibalchenko M, Tavoulari S, Crichton PG & Ruprecht JJ (2016) The transport mechanism of the mitochondrial ADP/ATP carrier. Biochim Biophys Acta 1863, 2379-93
Paupe V, Prudent J, Dassa EP, Rendon OZurita & Shoubridge EA (2015) CCDC90A (MCUR1) is a cytochrome c oxidase assembly factor and not a regulator of the mitochondrial calcium uniporter. Cell Metab 21, 109-16
Walpole TB, Palmer DN, Jiang H, Ding S, Fearnley IM & Walker JE (2015) Conservation of complete trimethylation of lysine-43 in the rotor ring of c-subunits of metazoan adenosine triphosphate (ATP) synthases. Mol Cell Proteomics 14, 828-40
Brea-Calvo G, Haack TB, Karall D, Ohtake A, Invernizzi F, Carrozzo R, Kremer L, Dusi S, Fauth C, Scholl-Bürgi S, Graf E, Ahting U, Resta N, Laforgia N, Verrigni D, Okazaki Y, Kohda M, Martinelli D, Freisinger P, Strom TM, Meitinger T, Lamperti C, Lacson A, Navas P, Mayr JA, Bertini E, Murayama K, Zeviani M, Prokisch H & Ghezzi D (2015) COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency. Am J Hum Genet 96, 309-17
Cunniff B, Newick K, Nelson KJ, Wozniak AN, Beuschel S, Leavitt B, Bhave A, Butnor K, Koenig A, Chouchani ET, James AM, Haynes AC, W Lowther T, Murphy MP, Shukla A & Heintz NH (2015) Disabling Mitochondrial Peroxide Metabolism via Combinatorial Targeting of Peroxiredoxin 3 as an Effective Therapeutic Approach for Malignant Mesothelioma. PLoS One 10, e0127310
Rocca MA, Bianchi-Marzoli S, Messina R, Cascavilla MLucia, Zeviani M, Lamperti C, Milesi J, Carta A, Cammarata G, Leocani L, Lamantea E, Bandello F, Comi G, Falini A & Filippi M (2015) Distributed abnormalities of brain white matter architecture in patients with dominant optic atrophy and OPA1 mutations. J Neurol 262, 1216-27
Viscomi C, Bottani E & Zeviani M (2015) Emerging concepts in the therapy of mitochondrial disease. Biochim Biophys Acta 1847, 544-57
Ghezzi D, Canavese C, Kovacevic G, Zamurovic D, Barzaghi C, Giorgi C, Zorzi G, Zeviani M, Pinton P, Garavaglia B & Nardocci N (2015) A family with paroxysmal nonkinesigenic dyskinesias (PNKD): evidence of mitochondrial dysfunction. Eur J Paediatr Neurol 19, 64-8
Jalloh I, Carpenter KLH, Grice P, Howe DJ, Mason A, Gallagher CN, Helmy A, Murphy MP, Menon DK, T Carpenter A, Pickard JD & Hutchinson PJ (2015) Glycolysis and the pentose phosphate pathway after human traumatic brain injury: microdialysis studies using 1,2-(13)C2 glucose. J Cereb Blood Flow Metab 35, 111-20
Bason JV, Montgomery MG, Leslie AGW & Walker JE (2015) How release of phosphate from mammalian F1-ATPase generates a rotary substep. Proc Natl Acad Sci U S A 112, 6009-14
Lindinger PW, Christe M, Eberle AN, Kern B, Peterli R, Peters T, Jayawardene KJI, Fearnley IM & Walker JE (2015) Important mitochondrial proteins in human omental adipose tissue show reduced expression in obesity. J Proteomics 124, 79-87
Meyer K, Buettner S, Ghezzi D, Zeviani M, Bano D & Nicotera P (2015) Loss of apoptosis-inducing factor critically affects MIA40 function. Cell Death Dis 6, e1814
Prudent J, Zunino R, Sugiura A, Mattie S, Shore GC & McBride HM (2015) MAPL SUMOylation of Drp1 Stabilizes an ER/Mitochondrial Platform Required for Cell Death. Mol Cell 59, 941-55
Del Amo VLopez, Seco-Cervera M, Garcia-Gimenez JLuis, Whitworth AJ, Pallardo FV & Galindo MIbo (2015) Mitochondrial defects and neuromuscular degeneration caused by altered expression of Drosophila Gdap1: implications for the Charcot-Marie-Tooth neuropathy. Hum Mol Genet 24, 21-36
Vanderperre B, Bender T, Kunji ERS & Martinou J-C (2015) Mitochondrial pyruvate import and its effects on homeostasis. Curr Opin Cell Biol 33, 35-41
Van Haute L, Pearce SF, Powell CA, D'Souza AR, Nicholls TJ & Minczuk M (2015) Mitochondrial transcript maturation and its disorders. J Inherit Metab Dis 38, 655-80
Aras S, Bai M, Lee I, Springett R, Hüttemann M & Grossman LI (2015) MNRR1 (formerly CHCHD2) is a bi-organellar regulator of mitochondrial metabolism. Mitochondrion 20, 43-51
van Rahden VA, Fernandez-Vizarra E, Alawi M, Brand K, Fellmann F, Horn D, Zeviani M & Kutsche K (2015) Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome. Am J Hum Genet 96, 640-50
Coughlin CR, Scharer GH, Friederich MW, Yu H-C, Geiger EA, Creadon-Swindell G, Collins AE, Vanlander AV, Van Coster R, Powell CA, Swanson MA, Minczuk M, Van Hove JLK & Shaikh TH (2015) Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder. J Med Genet 52, 532-40
Bee L, Nasca A, Zanolini A, Cendron F, D'Adamo P, Costa R, Lamperti C, Celotti L, Ghezzi D & Zeviani M (2015) A nonsense mutation of human XRCC4 is associated with adult-onset progressive encephalocardiomyopathy. EMBO Mol Med 7, 918-29
Vayalil PK, Oh J-Y, Zhou F, Diers AR, M Smith R, Golzarian H, Oliver PG, Smith RAJ, Murphy MP, Velu SE & Landar A (2015) A novel class of mitochondria-targeted soft electrophiles modifies mitochondrial proteins and inhibits mitochondrial metabolism in breast cancer cells through redox mechanisms. PLoS One 10, e0120460
Wiegman CH, Michaeloudes C, Haji G, Narang P, Clarke CJ, Russell KE, Bao W, Pavlidis S, Barnes PJ, Kanerva J, Bittner A, Rao N, Murphy MP, Kirkham PA, Chung KFan & Adcock IM (2015) Oxidative stress-induced mitochondrial dysfunction drives inflammation and airway smooth muscle remodeling in patients with chronic obstructive pulmonary disease. J Allergy Clin Immunol 136, 769-80