Publications

Found 209 results
Filters: Keyword is Molecular Sequence Data  [Clear All Filters]
2009
Valente L, Shigi N, Suzuki T & Zeviani M (2009) The R336Q mutation in human mitochondrial EFTu prevents the formation of an active mt-EFTu.GTP.aa-tRNA ternary complex. Biochim Biophys Acta 1792, 791-5
Yagi H, Konno H, Murakami-Fuse T, Isu A, Oroguchi T, Akutsu H, Ikeguchi M & Hisabori T (2009) Structural and functional analysis of the intrinsic inhibitor subunit epsilon of F1-ATPase from photosynthetic organisms. Biochem J 425, 85-94
2008
Galassi G, Lamantea E, Invernizzi F, Tavani F, Pisano I, Ferrero I, Palmieri L & Zeviani M (2008) Additive effects of POLG1 and ANT1 mutations in a complex encephalomyopathy. Neuromuscul Disord 18, 465-70
Mineri R, Rimoldi M, Burlina AB, Koskull S, Perletti C, Heese B, von Döbeln U, Mereghetti P, Di Meo I, Invernizzi F, Zeviani M, Uziel G & Tiranti V (2008) Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy. J Med Genet 45, 473-8
Robinson AJ, Overy C & Kunji ERS (2008) The mechanism of transport by mitochondrial carriers based on analysis of symmetry. Proc Natl Acad Sci U S A 105, 17766-71
Tsaousis AD, Kunji ERS, Goldberg AV, Lucocq JM, Hirt RP & T Embley M (2008) A novel route for ATP acquisition by the remnant mitochondria of Encephalitozoon cuniculi. Nature 453, 553-6
Marongiu R, Ferraris A, Ialongo T, Michiorri S, Soleti F, Ferrari F, Elia AE, Ghezzi D, Albanese A, Altavista MConcetta, Antonini A, Barone P, Brusa L, Cortelli P, Martinelli P, Pellecchia MTeresa, Pezzoli G, Scaglione C, Stanzione P, Tinazzi M, Zecchinelli A, Zeviani M, Cassetta E, Garavaglia B, Dallapiccola B, Bentivoglio ARita & Valente EMaria (2008) PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum. Hum Mutat 29, 565
Massa V, Fernandez-Vizarra E, Alshahwan S, Bakhsh E, Goffrini P, Ferrero I, Mereghetti P, D'Adamo P, Gasparini P & Zeviani M (2008) Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase. Am J Hum Genet 82, 1281-9
2007
Carbajo RJ, Kellas FA, Yang J-C, Runswick MJ, Montgomery MG, Walker JE & Neuhaus D (2007) How the N-terminal domain of the OSCP subunit of bovine F1Fo-ATP synthase interacts with the N-terminal region of an alpha subunit. J Mol Biol 368, 310-8
Carroll J, Altman MC, Fearnley IM & Walker JE (2007) Identification of membrane proteins by tandem mass spectrometry of protein ions. Proc Natl Acad Sci U S A 104, 14330-5
Meyer B, Wittig I, Trifilieff E, Karas M & Schägger H (2007) Identification of two proteins associated with mammalian ATP synthase. Mol Cell Proteomics 6, 1690-9
Fernandez-Vizarra E, Bugiani M, Goffrini P, Carrara F, Farina L, Procopio E, Donati A, Uziel G, Ferrero I & Zeviani M (2007) Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy. Hum Mol Genet 16, 1241-52
Valente L, Tiranti V, Marsano RMassimilia, Malfatti E, Fernandez-Vizarra E, Donnini C, Mereghetti P, De Gioia L, Burlina A, Castellan C, Comi GP, Savasta S, Ferrero I & Zeviani M (2007) Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu. Am J Hum Genet 80, 44-58
Floyd S, Favre C, Lasorsa FM, Leahy M, Trigiante G, Stroebel P, Marx A, Loughran G, O'Callaghan K, Marobbio CMT, Slotboom DJ, Kunji ERS, Palmieri F & O'Connor R (2007) The insulin-like growth factor-I-mTOR signaling pathway induces the mitochondrial pyrimidine nucleotide carrier to promote cell growth. Mol Biol Cell 18, 3545-55
Monné M, Robinson AJ, Boes C, Harbour ME, Fearnley IM & Kunji ERS (2007) The mimivirus genome encodes a mitochondrial carrier that transports dATP and dTTP. J Virol 81, 3181-6
Worrall JAR, Schlarb-Ridley BG, Reda T, Marcaida MJ, Moorlen RJ, Wastl J, Hirst J, Bendall DS, Luisi BF & Howe CJ (2007) Modulation of heme redox potential in the cytochrome c6 family. J Am Chem Soc 129, 9468-75
Fernandez-Vizarra E, Berardinelli A, Valente L, Tiranti V & Zeviani M (2007) Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA). J Med Genet 44, 173-80
Pusnik M, Small I, Read LK, Fabbro T & Schneider A (2007) Pentatricopeptide repeat proteins in Trypanosoma brucei function in mitochondrial ribosomes. Mol Cell Biol 27, 6876-88
Kato S, Yoshida M & Kato-Yamada Y (2007) Role of the epsilon subunit of thermophilic F1-ATPase as a sensor for ATP. J Biol Chem 282, 37618-23
2006
Kirino Y, Yasukawa T, Marjavaara SK, Jacobs HT, Holt IJ, Watanabe K & Suzuki T (2006) Acquisition of the wobble modification in mitochondrial tRNALeu(CUN) bearing the G12300A mutation suppresses the MELAS molecular defect. Hum Mol Genet 15, 897-904
Kunji ERS & Robinson AJ (2006) The conserved substrate binding site of mitochondrial carriers. Biochim Biophys Acta 1757, 1237-48
Carelli V, Achilli A, Valentino MLucia, Rengo C, Semino O, Pala M, Olivieri A, Mattiazzi M, Pallotti F, Carrara F, Zeviani M, Leuzzi V, Carducci C, Valle G, Simionati B, Mendieta L, Salomao S, Belfort R, Sadun AA & Torroni A (2006) Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees. Am J Hum Genet 78, 564-74
Hinchliffe P, Carroll J & Sazanov LA (2006) Identification of a novel subunit of respiratory complex I from Thermus thermophilus. Biochemistry 45, 4413-20
Keis S, Stocker A, Dimroth P & Cook GM (2006) Inhibition of ATP hydrolysis by thermoalkaliphilic F1Fo-ATP synthase is controlled by the C terminus of the epsilon subunit. J Bacteriol 188, 3796-804
Robinson AJ & Kunji ERS (2006) Mitochondrial carriers in the cytoplasmic state have a common substrate binding site. Proc Natl Acad Sci U S A 103, 2617-22

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