Publications

Found 20 results
Filters: Keyword is DNA, Complementary  [Clear All Filters]
2013
Gai X, Ghezzi D, Johnson MA, Biagosch CA, Shamseldin HE, Haack TB, Reyes A, Tsukikawa M, Sheldon CA, Srinivasan S, Gorza M, Kremer LS, Wieland T, Strom TM, Polyak E, Place E, Consugar M, Ostrovsky J, Vidoni S, Robinson AJ, Wong L-J, Sondheimer N, Salih MA, Al-Jishi E, Raab CP, Bean C, Furlan F, Parini R, Lamperti C, Mayr JA, Konstantopoulou V, Huemer M, Pierce EA, Meitinger T, Freisinger P, Sperl W, Prokisch H, Alkuraya FS, Falk MJ & Zeviani M (2013) Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. Am J Hum Genet 93, 482-95
2008
Cízková A, Stránecký V, Mayr JA, Tesarova M, Havlícková V, Paul J, Ivánek R, Kuss AW, Hansikova H, Kaplanová V, Vrbacký M, Hartmannová H, Nosková L, Honzík T, Drahota Z, Magner M, Hejzlarová K, Sperl W, Zeman J, Houštěk J & Kmoch S (2008) TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. Nat Genet 40, 1288-90
2007
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
2005
Wang L, Limongelli A, Vila MR, Carrara F, Zeviani M & Eriksson S (2005) Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes. Mol Genet Metab 84, 75-82
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
2004
Fiermonte G, De Leonardis F, Todisco S, Palmieri L, Lasorsa FMassimo & Palmieri F (2004) Identification of the mitochondrial ATP-Mg/Pi transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution. J Biol Chem 279, 30722-30
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
Fiermonte G, Dolce V, David L, Santorelli FMaria, Dionisi-Vici C, Palmieri F & Walker JE (2003) The mitochondrial ornithine transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms. J Biol Chem 278, 32778-83
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
2001
Päivärinne H & Kainulainen H (2001) DAPIT, a novel protein down-regulated in insulin-sensitive tissues in streptozotocin-induced diabetes. Acta Diabetol 38, 83-6
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
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
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
1998
Casari G, De Fusco M, Ciarmatori S, Zeviani M, Mora M, Fernandez P, De Michele G, Filla A, Cocozza S, Marconi R, Dürr A, Fontaine B & Ballabio A (1998) Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 93, 973-83
1997
Prats E, Noël M, Létourneau J, Tiranti V, Vaqué J, Debón R, Zeviani M, Cornudella L & Ruiz-Carrillo A (1997) Characterization and expression of the mouse endonuclease G gene. DNA Cell Biol 16, 1111-22
Battaglia G, Princivalle A, Forti F, Lizier C & Zeviani M (1997) Expression of the SMN gene, the spinal muscular atrophy determining gene, in the mammalian central nervous system. Hum Mol Genet 6, 1961-71
Tiranti V, Savoia A, Forti F, D'Apolito MF, Centra M, Rocchi M & Zeviani M (1997) Identification of the gene encoding the human mitochondrial RNA polymerase (h-mtRPOL) by cyberscreening of the Expressed Sequence Tags database. Hum Mol Genet 6, 615-25
1995
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
1994
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