Publications

Found 988 results
Filters: Keyword is Humans  [Clear All Filters]
2015
Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GPietro, Donati MAlice, Federico A, Minetti C, Moggio M, Mongini T, Santorelli FMaria, Servidei S, Tonin P, Toscano A, Bruno C, Bello L, Ienco ECaldarazzo, Cardaioli E, Catteruccia M, Da Pozzo P, Filosto M, Lamperti C, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Sauchelli D, Scarpelli M, Sciacco M, Valentino MLucia, Vercelli L, Zeviani M & Siciliano G (2015) Redefining phenotypes associated with mitochondrial DNA single deletion. J Neurol 262, 1301-9
Willems PHGM, Rossignol R, Dieteren CEJ, Murphy MP & Koopman WJH (2015) Redox Homeostasis and Mitochondrial Dynamics. Cell Metab 22, 207-18
Reyes A, Melchionda L, Nasca A, Carrara F, Lamantea E, Zanolini A, Lamperti C, Fang M, Zhang J, Ronchi D, Bonato S, Fagiolari G, Moggio M, Ghezzi D & Zeviani M (2015) RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy. Am J Hum Genet 97, 186-93
Shanmughapriya S, Rajan S, Hoffman NE, Higgins AM, Tomar D, Nemani N, Hines KJ, Smith DJ, Eguchi A, Vallem S, Shaikh F, Cheung M, Leonard NJ, Stolakis RS, Wolfers MP, Ibetti J, J Chuprun K, Jog NR, Houser SR, Koch WJ, Elrod JW & Madesh M (2015) SPG7 Is an Essential and Conserved Component of the Mitochondrial Permeability Transition Pore. Mol Cell 60, 47-62
Carelli V, Musumeci O, Caporali L, Zanna C, La Morgia C, Del Dotto V, Porcelli AMaria, Rugolo M, Valentino MLucia, Iommarini L, Maresca A, Barboni P, Carbonelli M, Trombetta C, Valente EMaria, Patergnani S, Giorgi C, Pinton P, Rizzo G, Tonon C, Lodi R, Avoni P, Liguori R, Baruzzi A, Toscano A & Zeviani M (2015) Syndromic parkinsonism and dementia associated with OPA1 missense mutations. Ann Neurol 78, 21-38
D'Erchia AMaria, Atlante A, Gadaleta G, Pavesi G, Chiara M, De Virgilio C, Manzari C, Mastropasqua F, Prazzoli GMarco, Picardi E, Gissi C, Horner D, Reyes A, Sbisà E, Tullo A & Pesole G (2015) Tissue-specific mtDNA abundance from exome data and its correlation with mitochondrial transcription, mass and respiratory activity. Mitochondrion 20, 13-21
Crichton PG, Lee Y, Ruprecht JJ, Cerson E, Thangaratnarajah C, King MS & Kunji ERS (2015) Trends in thermostability provide information on the nature of substrate, inhibitor, and lipid interactions with mitochondrial carriers. J Biol Chem 290, 8206-17
Powell CA, Kopajtich R, D'Souza AR, Rorbach J, Kremer LS, Husain RA, Dallabona C, Donnini C, Alston CL, Griffin H, Pyle A, Chinnery PF, Strom TM, Meitinger T, Rodenburg RJ, Schottmann G, Schuelke M, Romain N, Haller RG, Ferrero I, Haack TB, Taylor RW, Prokisch H & Minczuk M (2015) TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies. Am J Hum Genet 97, 319-28
Vanlander AV, Menten B, Smet J, De Meirleir L, Sante T, De Paepe B, Seneca S, Pearce SF, Powell CA, Vergult S, Michotte A, De Latter E, Vantomme L, Minczuk M & Van Coster R (2015) Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2). Hum Mutat 36, 222-31
Lee Y, Willers C, Kunji ERS & Crichton PG (2015) Uncoupling protein 1 binds one nucleotide per monomer and is stabilized by tightly bound cardiolipin. Proc Natl Acad Sci U S A 112, 6973-8
2014
Carpenter KLH, Jalloh I, Gallagher CN, Grice P, Howe DJ, Mason A, Timofeev I, Helmy A, Murphy MP, Menon DK, Kirkpatrick PJ, T Carpenter A, Sutherland GR, Pickard JD & Hutchinson PJ (2014) (13)C-labelled microdialysis studies of cerebral metabolism in TBI patients. Eur J Pharm Sci 57, 87-97
Bottani E, Giordano C, Civiletto G, Di Meo I, Auricchio A, Ciusani E, Marchet S, Lamperti C, d'Amati G, Viscomi C & Zeviani M (2014) AAV-mediated liver-specific MPV17 expression restores mtDNA levels and prevents diet-induced liver failure. Mol Ther 22, 10-7
Johnson MA, Vidoni S, Durigon R, Pearce SF, Rorbach J, He J, Brea-Calvo G, Minczuk M, Reyes A, Holt IJ & Spinazzola A (2014) Amino acid starvation has opposite effects on mitochondrial and cytosolic protein synthesis. PLoS One 9, e93597
Murphy MP (2014) Antioxidants as therapies: can we improve on nature?. Free Radic Biol Med 66, 20-3
Bonneau B, Nougarède A, Prudent J, Popgeorgiev N, Peyriéras N, Rimokh R & Gillet G (2014) The Bcl-2 homolog Nrz inhibits binding of IP3 to its receptor to control calcium signaling during zebrafish epiboly. Sci Signal 7, ra14
Thangaratnarajah C, Ruprecht JJ & Kunji ERS (2014) Calcium-induced conformational changes of the regulatory domain of human mitochondrial aspartate/glutamate carriers. Nat Commun 5, 5491
Pogson JH, Ivatt RM, Sanchez-Martinez A, Tufi R, Wilson E, Mortiboys H & Whitworth AJ (2014) The complex I subunit NDUFA10 selectively rescues Drosophila pink1 mutants through a mechanism independent of mitophagy. PLoS Genet 10, e1004815
van der Burgh R, Nijhuis L, Pervolaraki K, Compeer EB, Jongeneel LH, van Gijn M, Coffer PJ, Murphy MP, Mastroberardino PG, Frenkel J & Boes M (2014) Defects in mitochondrial clearance predispose human monocytes to interleukin-1β hypersecretion. J Biol Chem 289, 5000-12
Barboni P, Savini G, Cascavilla MLucia, Caporali L, Milesi J, Borrelli E, La Morgia C, Valentino MLucia, Triolo G, Lembo A, Carta A, De Negri A, Sadun F, Rizzo G, Parisi V, Pierro L, Marzoli SBianchi, Zeviani M, Sadun AA, Bandello F & Carelli V (2014) Early macular retinal ganglion cell loss in dominant optic atrophy: genotype-phenotype correlation. Am J Ophthalmol 158, 628-36.e3
Bridges HR, J Y Jones A, Pollak MN & Hirst J (2014) Effects of metformin and other biguanides on oxidative phosphorylation in mitochondria. Biochem J 462, 475-87
Giordano C, Iommarini L, Giordano L, Maresca A, Pisano A, Valentino MLucia, Caporali L, Liguori R, Deceglie S, Roberti M, Fanelli F, Fracasso F, Ross-Cisneros FN, D'Adamo P, Hudson G, Pyle A, Yu-Wai-Man P, Chinnery PF, Zeviani M, Salomao SR, Berezovsky A, Belfort R, Ventura DFix, Moraes M, Filho MMoraes, Barboni P, Sadun F, De Negri A, Sadun AA, Tancredi A, Mancini M, d'Amati G, Polosa PLoguercio, Cantatore P & Carelli V (2014) Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy. Brain 137, 335-53
Torres-Torronteras J, Viscomi C, Cabrera-Pérez R, Cámara Y, Di Meo I, Barquinero J, Auricchio A, Pizzorno G, Hirano M, Zeviani M & Martí R (2014) Gene therapy using a liver-targeted AAV vector restores nucleoside and nucleotide homeostasis in a murine model of MNGIE. Mol Ther 22, 901-7
Ivatt RM, Sanchez-Martinez A, Godena VK, Brown S, Ziviani E & Whitworth AJ (2014) Genome-wide RNAi screen identifies the Parkinson disease GWAS risk locus SREBF1 as a regulator of mitophagy. Proc Natl Acad Sci U S A 111, 8494-9
Rhein VF, Carroll J, He J, Ding S, Fearnley IM & Walker JE (2014) Human METTL20 methylates lysine residues adjacent to the recognition loop of the electron transfer flavoprotein in mitochondria. J Biol Chem 289, 24640-51
Nicholls TJ & Minczuk M (2014) In D-loop: 40 years of mitochondrial 7S DNA. Exp Gerontol 56, 175-81

Pages