Publications

Found 20 results
Filters: Keyword is DNA Primers  [Clear All Filters]
2014
Rhein VF, Carroll J, He J, Ding S, Fearnley IM & Walker JE (2014) Human METTL20 methylates lysine residues adjacent to the recognition loop of the electron transfer flavoprotein in mitochondria. J Biol Chem 289, 24640-51
2013
Kornblum C, Nicholls TJ, Haack TB, Schöler S, Peeva V, Danhauser K, Hallmann K, Zsurka G, Rorbach J, Iuso A, Wieland T, Sciacco M, Ronchi D, Comi GP, Moggio M, Quinzii CM, DiMauro S, Calvo SE, Mootha VK, Klopstock T, Strom TM, Meitinger T, Minczuk MA, Kunz WS & Prokisch H (2013) Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease. Nat Genet 45, 214-9
2010
Ghezzi D, Sevrioukova I, Invernizzi F, Lamperti C, Mora M, D'Adamo P, Novara F, Zuffardi O, Uziel G & Zeviani M (2010) Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor. Am J Hum Genet 86, 639-49
2009
Valente L, Piga D, Lamantea E, Carrara F, Uziel G, Cudia P, Zani A, Farina L, Morandi L, Mora M, Spinazzola A, Zeviani M & Tiranti V (2009) Identification of novel mutations in five patients with mitochondrial encephalomyopathy. Biochim Biophys Acta 1787, 491-501
Tiranti V, Viscomi C, Hildebrandt T, Di Meo I, Mineri R, Tiveron C, Levitt MD, Prelle A, Fagiolari G, Rimoldi M & Zeviani M (2009) Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy. Nat Med 15, 200-5
2006
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
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
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
2003
Papworth M, Moore M, Isalan M, Minczuk MA, 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
Dziembowski A, Piwowarski J, Hoser R, Minczuk MA, 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
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
2001
Loktionov A, Watson MA, Gunter M, Stebbings WS, Speakman CT & Bingham SA (2001) Glutathione-S-transferase gene polymorphisms in colorectal cancer patients: interaction between GSTM1 and GSTM3 allele variants as a risk-modulating factor. Carcinogenesis 22, 1053-60
Pequignot MO, Desguerre I, Dey R, Tartari M, Zeviani M, Agostino A, Benelli C, Fouque F, Prip-Buus C, Marchant D, Abitbol M & Marsac C (2001) New splicing-site mutations in the SURF1 gene in Leigh syndrome patients. J Biol Chem 276, 15326-9
2000
Lehtinen SK, Hance N, A Meziane E, Juhola MK, Juhola KM, Karhu R, Spelbrink JN, Holt IJ & Jacobs HT (2000) Genotypic stability, segregation and selection in heteroplasmic human cell lines containing np 3243 mutant mtDNA. Genetics 154, 363-80
1997
Torroni A, Petrozzi M, D'Urbano L, Sellitto D, Zeviani M, Carrara F, Carducci C, Leuzzi V, Carelli V, Barboni P, De Negri A & Scozzari R (1997) Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484. Am J Hum Genet 60, 1107-21
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
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
1994
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
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