Publications

Found 110 results
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2007
Malfatti E, Bugiani M, Invernizzi F, de Souza CFischinger, Farina L, Carrara F, Lamantea E, Antozzi C, Confalonieri P, Sanseverino MTeresa, Giugliani R, Uziel G & Zeviani M (2007) Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy. Brain 130, 1894-904
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
Baruffini E, Lodi T, Dallabona C, Puglisi A, Zeviani M & Ferrero I (2006) Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans. Hum Mol Genet 15, 2846-55
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
Calvo S, Jain M, Xie X, Sheth SA, Chang B, Goldberger OA, Spinazzola A, Zeviani M, Carr SA & Mootha VK (2006) Systematic identification of human mitochondrial disease genes through integrative genomics. Nat Genet 38, 576-82
2005
Minczuk M, Lilpop J, Boros J & Stepien PP (2005) The 5' region of the human hSUV3 gene encoding mitochondrial DNA and RNA helicase: promoter characterization and alternative pre-mRNA splicing. Biochim Biophys Acta 1729, 81-7
Rubinstein JL, Dickson VKane, Runswick MJ & Walker JE (2005) ATP synthase from Saccharomyces cerevisiae: location of subunit h in the peripheral stalk region. J Mol Biol 345, 513-20
Yasukawa T, Yang M-Y, Jacobs HT & Holt IJ (2005) A bidirectional origin of replication maps to the major noncoding region of human mitochondrial DNA. Mol Cell 18, 651-62
Montanini L, Regna-Gladin C, Eoli M, Albarosa R, Carrara F, Zeviani M, Bruzzone MGrazia, Broggi G, Boiardi A & Finocchiaro G (2005) Instability of mitochondrial DNA and MRI and clinical correlations in malignant gliomas. J Neurooncol 74, 87-9
Chan KWai, Slotboom D-J, Cox S, T Embley M, Fabre O, van der Giezen M, Harding M, Horner DS, Kunji ERS, León-Avila G & Tovar J (2005) A novel ADP/ATP transporter in the mitosome of the microaerophilic human parasite Entamoeba histolytica. Curr Biol 15, 737-42
Yasukawa T, Kirino Y, Ishii N, Holt IJ, Jacobs HT, Makifuchi T, Fukuhara N, Ohta S, Suzuki T & Watanabe K (2005) Wobble modification deficiency in mutant tRNAs in patients with mitochondrial diseases. FEBS Lett 579, 2948-52
2004
R Curtis K & Brand MD (2004) Analysing microarray data using modular regulation analysis. Bioinformatics 20, 1272-84
Filipovska A, Eccles MR, Smith RAJ & Murphy MP (2004) Delivery of antisense peptide nucleic acids (PNAs) to the cytosol by disulphide conjugation to a lipophilic cation. FEBS Lett 556, 180-6
Spinazzola A, Carrara F, Mora M & Zeviani M (2004) Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the 5698G-->A mitochondrial DNA mutation. Neuromuscul Disord 14, 815-7
Achilli A, Rengo C, Magri C, Battaglia V, Olivieri A, Scozzari R, Cruciani F, Zeviani M, Briem E, Carelli V, Moral P, Dugoujon J-M, Roostalu U, Loogväli E-L, Kivisild T, Bandelt H-J, Richards M, Villems R, A Santachiara-Benerecetti S, Semino O & Torroni A (2004) The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool. Am J Hum Genet 75, 910-8
Limongelli A, Schaefer J, Jackson S, Invernizzi F, Kirino Y, Suzuki T, Reichmann H & Zeviani M (2004) Variable penetrance of a familial progressive necrotising encephalopathy due to a novel tRNA(Ile) homoplasmic mutation in the mitochondrial genome. J Med Genet 41, 342-9
2003
Meirhaeghe A, Crowley V, Lenaghan C, Lelliott C, Green K, Stewart A, Hart K, Schinner S, Sethi JK, Yeo G, Brand MD, Cortright RN, O'Rahilly S, Montague C & Vidal-Puig AJ (2003) Characterization of the human, mouse and rat PGC1 beta (peroxisome-proliferator-activated receptor-gamma co-activator 1 beta) gene in vitro and in vivo. Biochem J 373, 155-65
Papworth M, Moore M, Isalan M, Minczuk M, Choo Y & Klug A (2003) Inhibition of herpes simplex virus 1 gene expression by designer zinc-finger transcription factors. Proc Natl Acad Sci U S A 100, 1621-6
Crimi M, Galbiati S, Moroni I, Bordoni A, Perini MPaola, Lamantea E, Sciacco M, Zeviani M, Biunno I, Moggio M, Scarlato G & Comi GPietro (2003) A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome. Neurology 60, 1857-61
Talbot DA, Hanuise N, Rey B, Rouanet J-L, Duchamp C & Brand MD (2003) Superoxide activates a GDP-sensitive proton conductance in skeletal muscle mitochondria from king penguin (Aptenodytes patagonicus). Biochem Biophys Res Commun 312, 983-8
Dziembowski A, Piwowarski J, Hoser R, Minczuk M, Dmochowska A, Siep M, van der Spek H, Grivell L & Stepien PP (2003) The yeast mitochondrial degradosome. Its composition, interplay between RNA helicase and RNase activities and the role in mitochondrial RNA metabolism. J Biol Chem 278, 1603-11
2002
Harper JA, Stuart JA, Jekabsons MB, Roussel D, Brindle KM, Dickinson K, Jones RB & Brand MD (2002) Artifactual uncoupling by uncoupling protein 3 in yeast mitochondria at the concentrations found in mouse and rat skeletal-muscle mitochondria. Biochem J 361, 49-56
van der Giezen M, Slotboom DJan, Horner DS, Dyal PL, Harding M, Xue G-P, T Embley M & Kunji ERS (2002) Conserved properties of hydrogenosomal and mitochondrial ADP/ATP carriers: a common origin for both organelles. EMBO J 21, 572-9
Carroll J, Shannon RJ, Fearnley IM, Walker JE & Hirst J (2002) Definition of the nuclear encoded protein composition of bovine heart mitochondrial complex I. Identification of two new subunits. J Biol Chem 277, 50311-7
Zu Y, Di Bernardo S, Yagi T & Hirst J (2002) Redox properties of the [2Fe-2S] center in the 24 kDa (NQO2) subunit of NADH:ubiquinone oxidoreductase (complex I). Biochemistry 41, 10056-69

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