Found 110 results
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Suomalainen A, Kaukonen J, Amati P, Timonen R, Haltia M, Weissenbach J, Zeviani M, Somer H & Peltonen L (1995) An autosomal locus predisposing to deletions of mitochondrial DNA. Nat Genet 9, 146-51
Tiranti V, Rossi E, Rocchi M, DiDonato S, Zuffardi O & Zeviani M (1995) The gene (NFE2L1) for human NRF-1, an activator involved in nuclear-mitochondrial interactions, maps to 7q32. Genomics 27, 555-7
Mariotti C, Savarese N, Suomalainen A, Rimoldi M, Comi G, Prelle A, Antozzi C, Servidei S, Jarre L, DiDonato S & Zeviani M (1995) Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA. J Neurol 242, 304-12
Lefebvre S, Bürglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P & Zeviani M (1995) Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80, 155-65
Tiranti V, Chariot P, Carella F, Toscano A, Soliveri P, Girlanda P, Carrara F, Fratta GM, Reid FM, Mariotti C & Zeviani M (1995) Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene. Hum Mol Genet 4, 1421-7
Fabrizi GM, Tiranti V, Mariotti C, Guazzi GC, Malandrini A, DiDonato S & Zeviani M (1995) Sequence analysis of mitochondrial DNA in a new maternally inherited encephalomyopathy. J Neurol 242, 490-6
Hardman CH, Broadhurst RW, Raine AR, Grasser KD, Thomas JO & Laue ED (1995) Structure of the A-domain of HMG1 and its interaction with DNA as studied by heteronuclear three- and four-dimensional NMR spectroscopy. Biochemistry 34, 16596-607
Collinson IR, van Raaij MJ, Runswick MJ, Fearnley IM, Skehel JM, Orriss GL, Miroux B & Walker JE (1994) ATP synthase from bovine heart mitochondria. In vitro assembly of a stalk complex in the presence of F1-ATPase and in its absence. J Mol Biol 242, 408-21
Melki J, Lefebvre S, Bürglen L, Burlet P, Clermont O, Millasseau P, Reboullet S, Benichou B, Zeviani M & Le Paslier D (1994) De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science 264, 1474-7
Hagting A, Kunji ERS, Leenhouts KJ, Poolman B & Konings WN (1994) The di- and tripeptide transport protein of Lactococcus lactis. A new type of bacterial peptide transporter. J Biol Chem 269, 11391-9
Eoli M, Pandolfo M, Milanese C, Gasparini P, Salmaggi A & Zeviani M (1994) The myelin basic protein gene is not a major susceptibility locus for multiple sclerosis in Italian patients. J Neurol 241, 615-9
Yan WL, Lerner TJ, Haines JL & Gusella JF (1994) Sequence analysis and mapping of a novel human mitochondrial ATP synthase subunit 9 cDNA (ATP5G3). Genomics 24, 375-7
Tiranti V, Rocchi M, DiDonato S & Zeviani M (1993) Cloning of human and rat cDNAs encoding the mitochondrial single-stranded DNA-binding protein (SSB). Gene 126, 219-25
Tynkkynen S, Buist G, Kunji ERS, Kok J, Poolman B, Venema G & Haandrikman A (1993) Genetic and biochemical characterization of the oligopeptide transport system of Lactococcus lactis. J Bacteriol 175, 7523-32
Zeviani M, Muntoni F, Savarese N, Serra G, Tiranti V, Carrara F, Mariotti C & DiDonato S (1993) A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene. Eur J Hum Genet 1, 80-7
Dyer MR & Walker JE (1993) Sequences of members of the human gene family for the c subunit of mitochondrial ATP synthase. Biochem J 293 ( Pt 1), 51-64
Fabrizi GM, Sadlock J, Hirano M, Mita S, Koga Y, Rizzuto R, Zeviani M & Schon EA (1992) Differential expression of genes specifying two isoforms of subunit VIa of human cytochrome c oxidase. Gene 119, 307-12
Zeviani M (1992) Nucleus-driven mutations of human mitochondrial DNA. J Inherit Metab Dis 15, 456-71
Tiranti V, Barat-Gueride B, Bijl J, DiDonato S & Zeviani M (1991) A full-length cDNA encoding a mitochondrial DNA-specific single-stranded DNA binding protein from Xenopus laevis. Nucleic Acids Res 19, 4291
Walker JE, Lutter R, Dupuis A & Runswick MJ (1991) Identification of the subunits of F1F0-ATPase from bovine heart mitochondria. Biochemistry 30, 5369-78
Moraes CT, Zeviani M, Schon EA, Hickman RO, Vlcek BW & DiMauro S (1991) Mitochondrial DNA deletion in a girl with manifestations of Kearns-Sayre and Lowe syndromes: an example of phenotypic mimicry?. Am J Med Genet 41, 301-5
Zeviani M, Amati P, Bresolin N, Antozzi C, Piccolo G, Toscano A & DiDonato S (1991) Rapid detection of the A----G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF). Am J Hum Genet 48, 203-11
Zeviani M, Bresolin N, Gellera C, Bordoni A, Pannacci M, Amati P, Moggio M, Servidei S, Scarlato G & DiDonato S (1990) Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease. Am J Hum Genet 47, 904-14
Werner S, Schumann J & Strotmann H (1990) The primary structure of the gamma-subunit of the ATPase from Synechocystis 6803. FEBS Lett 261, 204-8
Zeviani M, Gellera C, Pannacci M, Uziel G, Prelle A, Servidei S & DiDonato S (1990) Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies. Ann Neurol 28, 94-7