Publications

Found 18 results
Filters: Keyword is RNA, Mitochondrial  [Clear All Filters]
2015
J Holmes B, Akman G, Wood SR, Sakhuja K, Cerritelli SM, Moss C, Bowmaker MR, Jacobs HT, Crouch RJ & Holt IJ (2015) Primer retention owing to the absence of RNase H1 is catastrophic for mitochondrial DNA replication. Proc Natl Acad Sci U S A 112, 9334-9
2013
Haack TB, Kopajtich R, Freisinger P, Wieland T, Rorbach J, Nicholls TJ, Baruffini E, Walther A, Danhauser K, Zimmermann FA, Husain RA, Schum J, Mundy H, Ferrero I, Strom TM, Meitinger T, Taylor RW, Minczuk M, Mayr JA & Prokisch H (2013) ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy. Am J Hum Genet 93, 211-23
Nicholls TJ, Rorbach J & Minczuk M (2013) Mitochondria: mitochondrial RNA metabolism and human disease. Int J Biochem Cell Biol 45, 845-9
Reyes A, Kazak L, Wood SR, Yasukawa T, Jacobs HT & Holt IJ (2013) Mitochondrial DNA replication proceeds via a 'bootlace' mechanism involving the incorporation of processed transcripts. Nucleic Acids Res 41, 5837-50
2012
Holt IJ & Reyes A (2012) Human mitochondrial DNA replication. Cold Spring Harb Perspect Biol 4
Sharma NK, Reyes A, Green P, Caron MJ, Bonini MG, Gordon DM, Holt IJ & Santos JHertzog (2012) Human telomerase acts as a hTR-independent reverse transcriptase in mitochondria. Nucleic Acids Res 40, 712-25
He J, Cooper HM, Reyes A, Di Re M, Sembongi H, Litwin TR, Gao J, Neuman KC, Fearnley IM, Spinazzola A, Walker JE & Holt IJ (2012) Mitochondrial nucleoid interacting proteins support mitochondrial protein synthesis. Nucleic Acids Res 40, 6109-21
Rorbach J & Minczuk M (2012) The post-transcriptional life of mammalian mitochondrial RNA. Biochem J 444, 357-73
2011
Moreno-Loshuertos R, Ferrín G, Acín-Pérez R, M Gallardo E, Viscomi C, Pérez-Martos A, Zeviani M, Fernández-Silva P & Enríquez JAntonio (2011) Evolution meets disease: penetrance and functional epistasis of mitochondrial tRNA mutations. PLoS Genet 7, e1001379
Rorbach J, Nicholls TJJ & Minczuk M (2011) PDE12 removes mitochondrial RNA poly(A) tails and controls translation in human mitochondria. Nucleic Acids Res 39, 7750-63
Minczuk M, He J, Duch AM, Ettema TJ, Chlebowski A, Dzionek K, Nijtmans LGJ, Huynen MA & Holt IJ (2011) TEFM (c17orf42) is necessary for transcription of human mtDNA. Nucleic Acids Res 39, 4284-99
2008
Tuppen HAL, Fattori F, Carrozzo R, Zeviani M, DiMauro S, Seneca S, Martindale JE, Olpin SE, Treacy EP, McFarland R, Santorelli FM & Taylor RW (2008) Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations. J Med Genet 45, 55-61
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
2002
Yang MYao, Bowmaker M, Reyes A, Vergani L, Angeli P, Gringeri E, Jacobs HT & Holt IJ (2002) Biased incorporation of ribonucleotides on the mitochondrial L-strand accounts for apparent strand-asymmetric DNA replication. Cell 111, 495-505
Minczuk M, Dmochowska A, Palczewska M & Stepien PP (2002) Overexpressed yeast mitochondrial putative RNA helicase Mss116 partially restores proper mtRNA metabolism in strains lacking the Suv3 mtRNA helicase. Yeast 19, 1285-93
1999
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
1998
Tiranti V, D'Agruma L, Pareyson D, Mora M, Carrara F, Zelante L, Gasparini P & Zeviani M (1998) A novel mutation in the mitochondrial tRNA(Val) gene associated with a complex neurological presentation. Ann Neurol 43, 98-101
1997
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