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Joanna Rorbach

Assistant professor

Publications

Deficient methylation and formylation of mt- tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3
Van Haute L, Dietmann S, Kremer L, Hussain S, Pearce Sf, Powell Ca, et al
NATURE COMMUNICATIONS 2016;:12039-

Human Cytomegalovirus Infection Upregulates the Mitochondrial Transcription and Translation Machineries
Karniely S, Weekes Mp, Antrobus R, Rorbach J, Van Haute L, Umrania Y, et al
MBIO 2016;7(2):e00029-

Human mitochondrial ribosomes can switch their structural RNA composition
Rorbach J, Gao F, Powell Ca, D'souza A, Lightowlers Rn, Minczuk M, et al
Proceedings of the National Academy of Sciences of the United States of America 2016;113(43):12198-12201

Near-complete elimination of mutant mtDNA by iterative or dynamic dose-controlled treatment with mtZFNs
Gammage Pa, Gaude E, Van Haute L, Rebelo-guiomar P, Jackson Cb, Rorbach J, et al
Nucleic acids research 2016;44(16):7804-16

TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies
Powel Ca, Kopajtich R, D'souza Ar, Rorbach J, Kremer Ls, Husain Ra, et al
AMERICAN JOURNAL OF HUMAN GENETICS 2015;97(2):319-28

Mitochondrially targeted ZFNs for selective degradation of pathogenic mitochondrial genomes bearing large-scale deletions or point mutations
Gammage Pa, Rorbach J, Vincent Ai, Rebar Ej, Minczuk M
EMBO MOLECULAR MEDICINE 2014;6(4):458-66

MPV17L2 is required for ribosome assembly in mitochondria
Dalla Rosa I, Durigon R, Pearce Sf, Rorbach J, Hirst Ema, Vidoni S, et al
NUCLEIC ACIDS RESEARCH 2014;42(13):8500-15

MRM2 and MRM3 are involved in biogenesis of the large subunit of the mitochondrial ribosome
Rorbach J, Boesch P, Gammage Pa, Nicholls Tjj, Pearce Sf, Patel D, et al
MOLECULAR BIOLOGY OF THE CELL 2014;25(17):2542-55

Mutations in GTPBP3 Cause a Mitochondria! Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy
Kopajtich R, Nicholls Tj, Rorbach J, Metodiev Md, Freisinger P, Mandel H, et al
AMERICAN JOURNAL OF HUMAN GENETICS 2014;95(6):708-20

Polyadenylation in bacteria and organelles
Rorbach J, Bobrowicz A, Pearce S, Minczuk M
Methods in molecular biology (Clifton, N.J.) 2014;1125():211-27

Alternative translation initiation augments the human mitochondrial proteome
Kazak L, Reyes A, Duncan Al, Rorbach J, Wood Sr, Brea-calvo G, et al
NUCLEIC ACIDS RESEARCH 2013;41(4):2354-69

ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy
Haack Tb, Kopajtich R, Freisinger P, Wieland T, Rorbach J, Nicholls Tj, et al
AMERICAN JOURNAL OF HUMAN GENETICS 2013;93(2):211-23

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease
Kornblum C, Nicholls Tj, Haack Tb, Scholer S, Peeva V, Danhauser K, et al
NATURE GENETICS 2013;45(2):214-9

Mitochondria: Mitochondrial RNA metabolism and human disease
Nicholls Tj, Rorbach J, Minczuk M
INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY 2013;45(4):845-9

C7orf30 is necessary for biogenesis of the large subunit of the mitochondrial ribosome
Rorbach J, Gammage Pa, Minczuk M
NUCLEIC ACIDS RESEARCH 2012;40(9):4097-109

The post-transcriptional life of mammalian mitochondrial RNA
Rorbach J, Minczuk M
BIOCHEMICAL JOURNAL 2012;:357-73

PDE12 removes mitochondrial RNA poly(A) tails and controls translation in human mitochondria
Rorbach J, Nicholls Tjj, Minczuk M
NUCLEIC ACIDS RESEARCH 2011;39(17):7750-63

A functional peptidyl-tRNA hydrolase, ICT1, has been recruited into the human mitochondrial ribosome
Richter R, Rorbach J, Pajak A, Smith Pm, Wessels Hj, Huynen Ma, et al
EMBO JOURNAL 2010;29(6):1116-25

Injury and Differentiation Following Inhibition of Mitochondrial Respiratory Chain Complex IV in Rat Oligodendrocytes
Ziabreva I, Campbell G, Rist J, Zambonin J, Rorbach J, Wydro Mm, et al
GLIA 2010;58(15):1827-37

Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNA(Val) carrying the pathogenic C25U mutation
Rorbach J, Yusoff Aa, Tuppen H, Abg-kamaludin Dp, Chrzanowska-lightowlers Zma, Taylor Rw, et al
NUCLEIC ACIDS RESEARCH 2008;36(9):3065-74

The human mitochondrial ribosome recycling factor is essential for cell viability
Rorbach J, Richter R, Wessels Hj, Wydro M, Pekalski M, Farhoud M, et al
NUCLEIC ACIDS RESEARCH 2008;36(18):5787-99

How do mammalian mitochondria synthesize proteins?
Rorbach J, Soleimanpour-lichaei R, Lightowlers Rn, Chrzanowska-lightowlers Zma
BIOCHEMICAL SOCIETY TRANSACTIONS 2007;:1290-1

mtRF1a is a human mitochondrial translation release factor decoding the major termination Codons UAA and UAG
Soleimanpour-lichaei Hr, Khul I, Gaisne M, Passos Jf, Wydro M, Rorbach J, et al
MOLECULAR CELL 2007;27(5):745-57

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