Publications

Found 181 results
Filters: Keyword is Amino Acid Sequence  [Clear All Filters]
2009
Matthies D, Preiss L, Klyszejko AL, Müller DJ, Cook GM, Vonck J & Meier T (2009) The c13 ring from a thermoalkaliphilic ATP synthase reveals an extended diameter due to a special structural region. J Mol Biol 388, 611-8
Ghezzi D, Viscomi C, Ferlini A, Gualandi F, Mereghetti P, DeGrandis D & Zeviani M (2009) Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence. Hum Mol Genet 18, 1058-64
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
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
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
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
Kunji ERS & Robinson AJ (2006) The conserved substrate binding site of mitochondrial carriers. Biochim Biophys Acta 1757, 1237-48
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
Spinazzola A, Viscomi C, Fernandez-Vizarra E, Carrara F, D'Adamo P, Calvo S, Marsano RMassimilia, Donnini C, Weiher H, Strisciuglio P, Parini R, Sarzi E, Chan A, DiMauro S, Rötig A, Gasparini P, Ferrero I, Mootha VK, Tiranti V & Zeviani M (2006) MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat Genet 38, 570-5
Longley MJ, Clark S, Man CYu Wai, Hudson G, Durham SE, Taylor RW, Nightingale S, Turnbull DM, Copeland WC & Chinnery PF (2006) Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia. Am J Hum Genet 78, 1026-34
Minczuk M, Papworth MA, Kolasinska P, Murphy MP & Klug A (2006) Sequence-specific modification of mitochondrial DNA using a chimeric zinc finger methylase. Proc Natl Acad Sci U S A 103, 19689-94

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