| Mitochondrially targeted ZFN s for selective degradation of pathogenic mitochondrial genomes bearing large‐scale deletions or point mutations PA Gammage, J Rorbach, AI Vincent, EJ Rebar, M Minczuk EMBO molecular medicine 6 (4), 458-466, 2014 | 327 | 2014 |
| Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease C Kornblum, TJ Nicholls, TB Haack, S Schöler, V Peeva, K Danhauser, ... Nature genetics 45 (2), 214-219, 2013 | 270 | 2013 |
| Deficient methylation and formylation of mt-tRNAMet wobble cytosine in a patient carrying mutations in NSUN3 L Van Haute, S Dietmann, L Kremer, S Hussain, SF Pearce, CA Powell, ... Nature communications 7 (1), 12039, 2016 | 232 | 2016 |
| A functional peptidyl‐tRNA hydrolase, ICT1, has been recruited into the human mitochondrial ribosome R Richter, J Rorbach, A Pajak, PM Smith, HJ Wessels, MA Huynen, ... The EMBO journal 29 (6), 1116-1125, 2010 | 216 | 2010 |
| Structures of the human mitochondrial ribosome in native states of assembly A Brown, S Rathore, D Kimanius, S Aibara, X Bai, J Rorbach, A Amunts, ... Nature structural & molecular biology 24 (10), 866-869, 2017 | 177 | 2017 |
| ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy TB Haack, R Kopajtich, P Freisinger, T Wieland, J Rorbach, TJ Nicholls, ... The American Journal of Human Genetics 93 (2), 211-223, 2013 | 172 | 2013 |
| mtRF1a is a human mitochondrial translation release factor decoding the major termination codons UAA and UAG HR Soleimanpour-Lichaei, I Kühl, M Gaisne, JF Passos, M Wydro, ... Molecular cell 27 (5), 745-757, 2007 | 171 | 2007 |
| Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy R Kopajtich, TJ Nicholls, J Rorbach, MD Metodiev, P Freisinger, H Mandel, ... The American Journal of Human Genetics 95 (6), 708-720, 2014 | 154 | 2014 |
| The post-transcriptional life of mammalian mitochondrial RNA J Rorbach, M Minczuk Biochemical Journal 444 (3), 357-373, 2012 | 154 | 2012 |
| The human mitochondrial ribosome recycling factor is essential for cell viability J Rorbach, R Richter, HJ Wessels, M Wydro, M Pekalski, M Farhoud, ... Nucleic acids research 36 (18), 5787-5799, 2008 | 144 | 2008 |
| MRM2 and MRM3 are involved in biogenesis of the large subunit of the mitochondrial ribosome J Rorbach, P Boesch, PA Gammage, TJJ Nicholls, SF Pearce, D Patel, ... Molecular biology of the cell 25 (17), 2542-2555, 2014 | 135 | 2014 |
| PDE12 removes mitochondrial RNA poly (A) tails and controls translation in human mitochondria J Rorbach, TJJ Nicholls, M Minczuk Nucleic acids research 39 (17), 7750-7763, 2011 | 130 | 2011 |
| Near-complete elimination of mutant mtDNA by iterative or dynamic dose-controlled treatment with mtZFNs PA Gammage, E Gaude, L Van Haute, P Rebelo-Guiomar, CB Jackson, ... Nucleic acids research 44 (16), 7804-7816, 2016 | 127 | 2016 |
| Injury and differentiation following inhibition of mitochondrial respiratory chain complex IV in rat oligodendrocytes I Ziabreva, G Campbell, J Rist, J Zambonin, J Rorbach, MM Wydro, ... Glia 58 (15), 1827-1837, 2010 | 122 | 2010 |
| TRMT5 mutations cause a defect in post-transcriptional modification of mitochondrial tRNA associated with multiple respiratory-chain deficiencies CA Powell, R Kopajtich, AR D’Souza, J Rorbach, LS Kremer, RA Husain, ... The American Journal of Human Genetics 97 (2), 319-328, 2015 | 106 | 2015 |
| Myosin VI-dependent actin cages encapsulate parkin-positive damaged mitochondria AJ Kruppa, C Kishi-Itakura, TA Masters, JE Rorbach, GL Grice, ... Developmental Cell 44 (4), 484-499. e6, 2018 | 103 | 2018 |
| C7orf30 is necessary for biogenesis of the large subunit of the mitochondrial ribosome J Rorbach, PA Gammage, M Minczuk Nucleic acids research 40 (9), 4097-4109, 2012 | 91 | 2012 |
| Human mitochondrial ribosomes can switch their structural RNA composition J Rorbach, F Gao, CA Powell, A D’Souza, RN Lightowlers, M Minczuk, ... Proceedings of the National Academy of Sciences 113 (43), 12198-12201, 2016 | 89 | 2016 |
| Maturation of selected human mitochondrial tRNAs requires deadenylation SF Pearce, J Rorbach, LV Haute, AR D’Souza, P Rebelo-Guiomar, ... Elife 6, e27596, 2017 | 86 | 2017 |
| Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation J Rorbach, AA Yusoff, H Tuppen, DP Abg-Kamaludin, ... Nucleic acids research 36 (9), 3065-3074, 2008 | 83 | 2008 |
