Publications

Found 22 results
Filters: Keyword is Nucleic Acid Conformation  [Clear All Filters]
2015
Litwin TR, Solà M, Holt IJ & Neuman KC (2015) A robust assay to measure DNA topology-dependent protein binding affinity. Nucleic Acids Res 43, e43
2014
Nicholls TJ & Minczuk M (2014) In D-loop: 40 years of mitochondrial 7S DNA. Exp Gerontol 56, 175-81
Rorbach J, Boesch P, Gammage PA, Nicholls TJJ, Pearce SF, Patel D, Hauser A, Perocchi F & Minczuk M (2014) MRM2 and MRM3 are involved in biogenesis of the large subunit of the mitochondrial ribosome. Mol Biol Cell 25, 2542-55
2013
Kazak L, Reyes A, He J, Wood SR, Brea-Calvo G, Holen TT & Holt IJ (2013) A cryptic targeting signal creates a mitochondrial FEN1 isoform with tailed R-Loop binding properties. PLoS One 8, e62340
2012
Ghezzi D, Baruffini E, Haack TB, Invernizzi F, Melchionda L, Dallabona C, Strom TM, Parini R, Burlina AB, Meitinger T, Prokisch H, Ferrero I & Zeviani M (2012) Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis. Am J Hum Genet 90, 1079-87
2010
Pohjoismäki JLO, J Holmes B, Wood SR, Yang M-Y, Yasukawa T, Reyes A, Bailey LJ, Cluett TJ, Goffart S, Willcox S, Rigby RE, Jackson AP, Spelbrink JN, Griffith JD, Crouch RJ, Jacobs HT & Holt IJ (2010) Mammalian mitochondrial DNA replication intermediates are essentially duplex but contain extensive tracts of RNA/DNA hybrid. J Mol Biol 397, 1144-55
Fusté JMiralles, Wanrooij S, Jemt E, Granycome CE, Cluett TJ, Shi Y, Atanassova N, Holt IJ, Gustafsson CM & Falkenberg M (2010) Mitochondrial RNA polymerase is needed for activation of the origin of light-strand DNA replication. Mol Cell 37, 67-78
2009
Pohjoismäki JLO, Goffart S, Tyynismaa H, Willcox S, Ide T, Kang D, Suomalainen A, Karhunen PJ, Griffith JD, Holt IJ & Jacobs HT (2009) Human heart mitochondrial DNA is organized in complex catenated networks containing abundant four-way junctions and replication forks. J Biol Chem 284, 21446-57
Da Pozzo P, Cardaioli E, Malfatti E, Gallus GNicola, Malandrini A, Gaudiano C, Berti G, Invernizzi F, Zeviani M & Federico A (2009) A novel mutation in the mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency. Eur J Hum Genet 17, 1092-6
Valente L, Shigi N, Suzuki T & Zeviani M (2009) The R336Q mutation in human mitochondrial EFTu prevents the formation of an active mt-EFTu.GTP.aa-tRNA ternary complex. Biochim Biophys Acta 1792, 791-5
2007
He J, Mao C-C, Reyes A, Sembongi H, Di Re M, Granycome C, Clippingdale AB, Fearnley IM, Harbour M, Robinson AJ, Reichelt S, Spelbrink JN, Walker JE & Holt IJ (2007) The AAA+ protein ATAD3 has displacement loop binding properties and is involved in mitochondrial nucleoid organization. J Cell Biol 176, 141-6
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
Yasukawa T, Reyes A, Cluett TJ, Yang M-Y, Bowmaker M, Jacobs HT & Holt IJ (2006) Replication of vertebrate mitochondrial DNA entails transient ribonucleotide incorporation throughout the lagging strand. EMBO J 25, 5358-71
2005
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
2002
Minczuk M, Piwowarski J, Papworth MA, Awiszus K, Schalinski S, Dziembowski A, Dmochowska A, Bartnik E, Tokatlidis K, Stepien PP & Borowski P (2002) Localisation of the human hSuv3p helicase in the mitochondrial matrix and its preferential unwinding of dsDNA. Nucleic Acids Res 30, 5074-86
Corona P, Lamantea E, Greco M, Carrara F, Agostino A, Guidetti D, Dotti MT, Mariotti C & Zeviani M (2002) Novel heteroplasmic mtDNA mutation in a family with heterogeneous clinical presentations. Ann Neurol 51, 118-22
2000
Kajander OA, Rovio AT, Majamaa K, Poulton J, Spelbrink JN, Holt IJ, Karhunen PJ & Jacobs HT (2000) Human mtDNA sublimons resemble rearranged mitochondrial genoms found in pathological states. Hum Mol Genet 9, 2821-35
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
1999
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
1995
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
1993
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