Publications

Found 209 results
Filters: Keyword is Molecular Sequence Data  [Clear All Filters]
2001
Fearnley IM, Carroll J, Shannon RJ, Runswick MJ, Walker JE & Hirst J (2001) GRIM-19, a cell death regulatory gene product, is a subunit of bovine mitochondrial NADH:ubiquinone oxidoreductase (complex I). J Biol Chem 276, 38345-8
Dolce V, Fiermonte G, Runswick MJ, Palmieri F & Walker JE (2001) The human mitochondrial deoxynucleotide carrier and its role in the toxicity of nucleoside antivirals. Proc Natl Acad Sci U S A 98, 2284-8
Spelbrink JN, Li FY, Tiranti V, Nikali K, Yuan QP, Tariq M, Wanrooij S, Garrido N, Comi G, Morandi L, Santoro L, Toscano A, Fabrizi GM, Somer H, Croxen R, Beeson D, Poulton J, Suomalainen A, Jacobs HT, Zeviani M & Larsson C (2001) Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nat Genet 28, 223-31
Fiermonte G, Dolce V, Palmieri L, Ventura M, Runswick MJ, Palmieri F & Walker JE (2001) Identification of the human mitochondrial oxodicarboxylate carrier. Bacterial expression, reconstitution, functional characterization, tissue distribution, and chromosomal location. J Biol Chem 276, 8225-30
Jones PC (2001) Introduction of a carboxyl group in the first transmembrane helix of Escherichia coli F1Fo ATPase subunit c and cytoplasmic pH regulation. J Bacteriol 183, 1524-30
Stuart JA, Cadenas S, Jekabsons MB, Roussel D & Brand MD (2001) Mitochondrial proton leak and the uncoupling protein 1 homologues. Biochim Biophys Acta 1504, 144-58
Pequignot MO, Dey R, Zeviani M, Tiranti V, Godinot C, Poyau A, Sue C, Di Mauro S, Abitbol M & Marsac C (2001) Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency. Hum Mutat 17, 374-81
Petruzzella V, Vergari R, Puzziferri I, Boffoli D, Lamantea E, Zeviani M & Papa S (2001) A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome. Hum Mol Genet 10, 529-35
Arechaga I & Jones PC (2001) The rotor in the membrane of the ATP synthase and relatives. FEBS Lett 494, 1-5
Gordon-Smith DJ, Carbajo RJ, Yang JC, Videler H, Runswick MJ, Walker JE & Neuhaus D (2001) Solution structure of a C-terminal coiled-coil domain from bovine IF(1): the inhibitor protein of F(1) ATPase. J Mol Biol 308, 325-39
Tozawa K, Broadhurst RW, Raine AR, Fuller C, Alvarez A, Guillen G, Padron G & Perham RN (2001) Solution structure of the lipoyl domain of the chimeric dihydrolipoyl dehydrogenase P64K from Neisseria meningitidis. Eur J Biochem 268, 4908-17
Gellera C, Castellotti B, Riggio MC, Silani V, Morandi L, Testa D, Casali C, Taroni F, Di Donato S, Zeviani M & Mariotti C (2001) Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations. Neuromuscul Disord 11, 404-10
2000
Polevoda B, Martzen MR, Das B, Phizicky EM & Sherman F (2000) Cytochrome c methyltransferase, Ctm1p, of yeast. J Biol Chem 275, 20508-13
Cabezón E, Butler PJ, Runswick MJ & Walker JE (2000) Modulation of the oligomerization state of the bovine F1-ATPase inhibitor protein, IF1, by pH. J Biol Chem 275, 25460-4
Kaukonen J, Juselius JK, Tiranti V, Kyttälä A, Zeviani M, Comi GP, Keränen S, Peltonen L & Suomalainen A (2000) Role of adenine nucleotide translocator 1 in mtDNA maintenance. Science 289, 782-5
Picon A, Kunji ERS, Lanfermeijer FC, Konings WN & Poolman B (2000) Specificity mutants of the binding protein of the oligopeptide transport system of Lactococcus lactis. J Bacteriol 182, 1600-8
Zerella R, Chen PY, Evans PA, Raine A & Williams DH (2000) Structural characterization of a mutant peptide derived from ubiquitin: implications for protein folding. Protein Sci 9, 2142-50
Hirst J & Goodin DB (2000) Unusual oxidative chemistry of N(omega)-hydroxyarginine and N-hydroxyguanidine catalyzed at an engineered cavity in a heme peroxidase. J Biol Chem 275, 8582-91
1999
Rovio A, Tiranti V, Bednarz AL, Suomalainen A, Spelbrink JN, Lecrenier N, Melberg A, Zeviani M, Poulton J, Foury F & Jacobs HT (1999) Analysis of the trinucleotide CAG repeat from the human mitochondrial DNA polymerase gene in healthy and diseased individuals. Eur J Hum Genet 7, 140-6
Arenas J, Campos Y, Bornstein B, Ribacoba R, Martín MA, Rubio JC, Santorelli FM, Zeviani M, DiMauro S & Garesse R (1999) A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNA (Lys) gene associated with myoclonus epilepsy with ragged-red fibers. Neurology 52, 377-82
Tiranti V, Carrara F, Confalonieri P, Mora M, Maffei RM, Lamantea E & Zeviani M (1999) A novel mutation (8342G-->A) in the mitochondrial tRNA(Lys) gene associated with progressive external ophthalmoplegia and myoclonus. Neuromuscul Disord 9, 66-71
1998
Comi GP, Bordoni A, Salani S, Franceschina L, Sciacco M, Prelle A, Fortunato F, Zeviani M, Napoli L, Bresolin N, Moggio M, Ausenda CD, Taanman JW & Scarlato G (1998) Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease. Ann Neurol 43, 110-6
Petruzzella V, Tiranti V, Fernandez P, Ianna P, Carrozzo R & Zeviani M (1998) Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain. Genomics 54, 494-504
Detmers FJ, Kunji ERS, Lanfermeijer FC, Poolman B & Konings WN (1998) Kinetics and specificity of peptide uptake by the oligopeptide transport system of Lactococcus lactis. Biochemistry 37, 16671-9
Tiranti V, Hoertnagel K, Carrozzo R, Galimberti C, Munaro M, Granatiero M, Zelante L, Gasparini P, Marzella R, Rocchi M, Bayona-Bafaluy MP, Enriquez JA, Uziel G, Bertini E, Dionisi-Vici C, Franco B, Meitinger T & Zeviani M (1998) Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am J Hum Genet 63, 1609-21

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