For entry in 2016: Applications from self-funded or sponsored students will be considered.
Our recent experimental papers:
1. Kopajtich, R., Nicholls, T.J., Rorbach, J., Metodiev, M.D. et al. (2014) Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis and encephalopathy Am J Hum Genet – in press
2. Rorbach, J., Boesch, P., Gammage, P.A., Nicholls, T.J., Pearce, S.F., Patel, D., Hauser, A., Perocchi, F., Minczuk, M. (2014) MRM2 and MRM3 are involved in biogenesis of the large subunit of mitochondrial ribosome. Mol Biol Cell 25, 2542-2555
3. Haack, T.B. et al. (2013) ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy. Am J Hum Genet 93, 211–223
4. Kornblum, C. Nicholls, T.J, Haack, T.B. et al., (2013) Loss-of-function mutations in MGME1 impair mtDNA replication and cause multi-systemic mitochondrial disease. Nat. Genet 45, 214-9
5. Rorbach, J., Gammage, P.A., Minczuk, M. (2012) C7orf30 is necessary for biogenesis of the large subunit of the mitochondrial ribosome. Nucleic Acids Res 40, 4097-4109
6. Rorbach, J., Nicholls, T.J., Minczuk, M. (2011) PDE12 removes mitochondrial RNA poly(A) tails and controls translation in human mitochondria. Nucleic Acids Res 39, 7750-63.
Our recent reviews
1. Nicholls, T.J., Rorbach, J., Minczuk, M. (2013) Mitochondrial RNA metabolism and human disease Int J Biochem Cell Biol 45, 845-9
2. Rorbach, J. & Minczuk M. (2012) The post-transcriptional life of mammalian mitochondrial RNA Biochem J. 444, 357-373