Publications

Found 988 results
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2013
Salsano E, Farina L, Lamperti C, Piscosquito G, Salerno F, Morandi L, Carrara F, Lamantea E, Zeviani M, Uziel G, Savoiardo M & Pareyson D (2013) Adult-onset leukodystrophies from respiratory chain disorders: do they exist?. J Neurol 260, 1617-23
Tiranti V & Zeviani M (2013) Altered sulfide (H(2)S) metabolism in ethylmalonic encephalopathy. Cold Spring Harb Perspect Biol 5, a011437
Kazak L, Reyes A, Duncan AL, Rorbach J, Wood SR, Brea-Calvo G, Gammage PA, Robinson AJ, Minczuk M & Holt IJ (2013) Alternative translation initiation augments the human mitochondrial proteome. Nucleic Acids Res 41, 2354-69
Andrews B, Carroll J, Ding S, Fearnley IM & Walker JE (2013) Assembly factors for the membrane arm of human complex I. Proc Natl Acad Sci U S A 110, 18934-9
Prudent J, Popgeorgiev N, Bonneau B, Thibaut J, Gadet R, Lopez J, Gonzalo P, Rimokh R, Manon S, Houart C, Herbomel P, Aouacheria A & Gillet G (2013) Bcl-wav and the mitochondrial calcium uniporter drive gastrula morphogenesis in zebrafish. Nat Commun 4, 2330
Saracchi E, Difrancesco JC, Brighina L, Marzorati L, Curtò NA, Lamperti C, Carrara F, Zeviani M & Ferrarese C (2013) A case of Leber hereditary optic neuropathy plus dystonia caused by G14459A mitochondrial mutation. Neurol Sci 34, 407-8
Kazak L, Reyes A, He J, Wood SR, Brea-Calvo G, Holen TT & Holt IJ (2013) A cryptic targeting signal creates a mitochondrial FEN1 isoform with tailed R-Loop binding properties. PLoS One 8, e62340
Baradaran R, Berrisford JM, Minhas GS & Sazanov LA (2013) Crystal structure of the entire respiratory complex I. Nature 494, 443-8
Giorgio V, von Stockum S, Antoniel M, Fabbro A, Fogolari F, Forte M, Glick GD, Petronilli V, Zoratti M, Szabó I, Lippe G & Bernardi P (2013) Dimers of mitochondrial ATP synthase form the permeability transition pore. Proc Natl Acad Sci U S A 110, 5887-92
Haack TB, Kopajtich R, Freisinger P, Wieland T, Rorbach J, Nicholls TJ, Baruffini E, Walther A, Danhauser K, Zimmermann FA, Husain RA, Schum J, Mundy H, Ferrero I, Strom TM, Meitinger T, Taylor RW, Minczuk M, Mayr JA & Prokisch H (2013) ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy. Am J Hum Genet 93, 211-23
Invernizzi F, Tigano M, Dallabona C, Donnini C, Ferrero I, Cremonte M, Ghezzi D, Lamperti C & Zeviani M (2013) A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity. Hum Mutat 34, 1619-22
Barboni P, Valentino MLucia, La Morgia C, Carbonelli M, Savini G, De Negri A, Simonelli F, Sadun F, Caporali L, Maresca A, Liguori R, Baruzzi A, Zeviani M & Carelli V (2013) Idebenone treatment in patients with OPA1-mutant dominant optic atrophy. Brain 136, e231
Indrieri A, Conte I, Chesi G, Romano A, Quartararo J, Tatè R, Ghezzi D, Zeviani M, Goffrini P, Ferrero I, Bovolenta P & Franco B (2013) The impairment of HCCS leads to MLS syndrome by activating a non-canonical cell death pathway in the brain and eyes. EMBO Mol Med 5, 280-93
Pearce LR, Atanassova N, Banton MC, Bottomley B, van der Klaauw AA, Revelli J-P, Hendricks A, Keogh JM, Henning E, Doree D, Jeter-Jones S, Garg S, Bochukova EG, Bounds R, Ashford S, Gayton E, Hindmarsh PC, Shield JPH, Crowne E, Barford D, Wareham NJ, O'Rahilly S, Murphy MP, Powell DR, Barroso I & I Farooqi S (2013) KSR2 mutations are associated with obesity, insulin resistance, and impaired cellular fuel oxidation. Cell 155, 765-77
Sazanov LA, Baradaran R, Efremov RG, Berrisford JM & Minhas G (2013) A long road towards the structure of respiratory complex I, a giant molecular proton pump. Biochem Soc Trans 41, 1265-71
Kornblum C, Nicholls TJ, Haack TB, Schöler S, Peeva V, Danhauser K, Hallmann K, Zsurka G, Rorbach J, Iuso A, Wieland T, Sciacco M, Ronchi D, Comi GP, Moggio M, Quinzii CM, DiMauro S, Calvo SE, Mootha VK, Klopstock T, Strom TM, Meitinger T, Minczuk M, Kunz WS & Prokisch H (2013) Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease. Nat Genet 45, 214-9
Sánchez E, Lobo T, Fox JL, Zeviani M, Winge DR & Fernandez-Vizarra E (2013) LYRM7/MZM1L is a UQCRFS1 chaperone involved in the last steps of mitochondrial Complex III assembly in human cells. Biochim Biophys Acta 1827, 285-93
Nicholls TJ, Rorbach J & Minczuk M (2013) Mitochondria: mitochondrial RNA metabolism and human disease. Int J Biochem Cell Biol 45, 845-9
Hirst J (2013) Mitochondrial complex I. Annu Rev Biochem 82, 551-75
Pearce S, Nezich CLaura & Spinazzola A (2013) Mitochondrial diseases: translation matters. Mol Cell Neurosci 55, 1-12
Yu E, Calvert PA, Mercer JR, Harrison J, Baker L, Figg NL, Kumar S, Wang JC, Hurst LA, Obaid DR, Logan A, West NEJ, Clarke MCH, Vidal-Puig A, Murphy MP & Bennett MR (2013) Mitochondrial DNA damage can promote atherosclerosis independently of reactive oxygen species through effects on smooth muscle cells and monocytes and correlates with higher-risk plaques in humans. Circulation 128, 702-12
Reyes A, Kazak L, Wood SR, Yasukawa T, Jacobs HT & Holt IJ (2013) Mitochondrial DNA replication proceeds via a 'bootlace' mechanism involving the incorporation of processed transcripts. Nucleic Acids Res 41, 5837-50
Palmieri F (2013) The mitochondrial transporter family SLC25: identification, properties and physiopathology. Mol Aspects Med 34, 465-84
Dashdorj A, Jyothi KR, Lim S, Jo A, Nguyen MNam, Ha J, Yoon K-S, Kim HJong, Park J-H, Murphy MP & Kim SSoo (2013) Mitochondria-targeted antioxidant MitoQ ameliorates experimental mouse colitis by suppressing NLRP3 inflammasome-mediated inflammatory cytokines. BMC Med 11, 178
Solesio ME, Prime TA, Logan A, Murphy MP, Arroyo-Jimenez MDel Mar, Jordán J & Galindo MF (2013) The mitochondria-targeted anti-oxidant MitoQ reduces aspects of mitochondrial fission in the 6-OHDA cell model of Parkinson's disease. Biochim Biophys Acta 1832, 174-82

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