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Joanna Rorbach
Joanna Rorbach
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Year
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
3052014
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
2582013
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
2122010
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
2102016
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
1662017
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
1652007
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
1592013
The post-transcriptional life of mammalian mitochondrial RNA
J Rorbach, M Minczuk
Biochemical Journal 444 (3), 357-373, 2012
1472012
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
1412008
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
1402014
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
1272014
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
1252011
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
1192016
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
1162010
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
982015
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
912018
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
872012
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
842008
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
832016
Maturation of selected human mitochondrial tRNAs requires deadenylation
SF Pearce, J Rorbach, LV Haute, AR D’Souza, P Rebelo-Guiomar, ...
Elife 6, e27596, 2017
782017
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