Publications

Found 9 results
Filters: Keyword is RNA Processing, Post-Transcriptional  [Clear All Filters]
2015
Powell CA, Kopajtich R, D'Souza AR, Rorbach J, Kremer LS, Husain RA, Dallabona C, Donnini C, Alston CL, Griffin H, Pyle A, Chinnery PF, Strom TM, Meitinger T, Rodenburg RJ, Schottmann G, Schuelke M, Romain N, Haller RG, Ferrero I, Haack TB, Taylor RW, Prokisch H & Minczuk M (2015) TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies. Am J Hum Genet 97, 319-28
2014
Da-Rè C, von Stockum S, Biscontin A, Millino C, Cisotto P, Zordan MA, Zeviani M, Bernardi P, De Pittà C & Costa R (2014) Leigh syndrome in Drosophila melanogaster: morphological and biochemical characterization of Surf1 post-transcriptional silencing. J Biol Chem 289, 29235-46
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
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
2012
Rorbach J & Minczuk M (2012) The post-transcriptional life of mammalian mitochondrial RNA. Biochem J 444, 357-73
2006
Zordan MA, Cisotto P, Benna C, Agostino A, Rizzo G, Piccin A, Pegoraro M, Sandrelli F, Perini G, Tognon G, De Caro R, Peron S, Kronniè TTe, Megighian A, Reggiani C, Zeviani M & Costa R (2006) Post-transcriptional silencing and functional characterization of the Drosophila melanogaster homolog of human Surf1. Genetics 172, 229-41
1999
Toompuu M, Tiranti V, Zeviani M & Jacobs HT (1999) Molecular phenotype of the np 7472 deafness-associated mitochondrial mutation in osteosarcoma cell cybrids. Hum Mol Genet 8, 2275-83
1998
Dziembowski A, Malewicz M, Minczuk M, Golik P, Dmochowska A & Stepien PP (1998) The yeast nuclear gene DSS1, which codes for a putative RNase II, is necessary for the function of the mitochondrial degradosome in processing and turnover of RNA. Mol Gen Genet 260, 108-14
1997
Zeviani M & Antozzi C (1997) Mitochondrial disorders. Mol Hum Reprod 3, 133-48