List of works - Joanna Rorbach

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

scientific article

A functional peptidyl-tRNA hydrolase, ICT1, has been recruited into the human mitochondrial ribosome

scientific article

Structures of the human mitochondrial ribosome in native states of assembly.

scientific article published on 11 September 2017

Mitochondrially targeted ZFNs for selective degradation of pathogenic mitochondrial genomes bearing large-scale deletions or point mutations

scientific article published on 24 February 2014

The post-transcriptional life of mammalian mitochondrial RNA.

scientific article published on June 2012

Deficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3

scientific journal article

ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy

scientific article

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

scientific article

PDE12 removes mitochondrial RNA poly(A) tails and controls translation in human mitochondria

scientific article

mtRF1a is a human mitochondrial translation release factor decoding the major termination codons UAA and UAG

scientific article

The human mitochondrial ribosome recycling factor is essential for cell viability

scientific article published on 9 September 2008

Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation

scientific article published on 8 April 2008

Injury and differentiation following inhibition of mitochondrial respiratory chain complex IV in rat oligodendrocytes

scientific article published on November 2010

MRM2 and MRM3 are involved in biogenesis of the large subunit of the mitochondrial ribosome.

scientific article

C7orf30 is necessary for biogenesis of the large subunit of the mitochondrial ribosome

scientific article

TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies

scientific journal article

Alternative translation initiation augments the human mitochondrial proteome

scientific journal article

MPV17L2 is required for ribosome assembly in mitochondria

scientific article

Amino acid starvation has opposite effects on mitochondrial and cytosolic protein synthesis

scientific article

Near-complete elimination of mutant mtDNA by iterative or dynamic dose-controlled treatment with mtZFNs

scientific article

Mitochondria: Mitochondrial RNA metabolism and human disease

scientific article published on January 17, 2013

Human mitochondrial ribosomes can switch their structural RNA composition.

scientific article published on 11 October 2016

Myosin VI-Dependent Actin Cages Encapsulate Parkin-Positive Damaged Mitochondria

scientific article published on 31 January 2018

Maturation of selected human mitochondrial tRNAs requires deadenylation.

scientific article

Polyadenylation in Bacteria and Organelles

article by Joanna Rorbach et al published 2014 in Methods in Molecular Biology

Human Cytomegalovirus Infection Upregulates the Mitochondrial Transcription and Translation Machineries

scientific article published on 29 March 2016

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome

scientific article published on 25 August 2017

Human mitochondrial ribosomes can switch structural tRNAs - but when and why?

scientific article published on 08 August 2017

The human RNA-binding protein RBFA promotes the maturation of the mitochondrial ribosome

scientific article published on 16 May 2017

Ribosome origami

scientific article published in November 2017

C6orf203 is an RNA-binding protein involved in mitochondrial protein synthesis

scientific article published on 01 September 2019

Macropinocytic entry of isolated mitochondria in epidermal growth factor-activated human osteosarcoma cells

scientific article published on 10 October 2017

MitoRibo-Tag Mice Provide a Tool for In Vivo Studies of Mitoribosome Composition

scientific article published on 01 November 2019

Human GTPBP5 is involved in the late stage of mitoribosome large subunit assembly

scientific article published on 01 January 2021

Distinct pre-initiation steps in human mitochondrial translation

scientific article published on 10 June 2020

Mechanism of mitoribosomal small subunit biogenesis and preinitiation

scientific article published on 08 June 2022

ANGEL2 phosphatase activity is required for non-canonical mitochondrial RNA processing

scientific article published on 30 September 2022

YbeY is required for ribosome small subunit assembly and tRNA processing in human mitochondria

scientific article published on 01 June 2021

Aberrant splicing in neuroblastoma generates RNA-fusion transcripts and provides vulnerability to spliceosome inhibitors

scientific article published on 01 March 2021

List of works by Joanna Rorbach

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

A functional peptidyl-tRNA hydrolase, ICT1, has been recruited into the human mitochondrial ribosome

Structures of the human mitochondrial ribosome in native states of assembly.

Mitochondrially targeted ZFNs for selective degradation of pathogenic mitochondrial genomes bearing large-scale deletions or point mutations

The post-transcriptional life of mammalian mitochondrial RNA.

Deficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3

ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

PDE12 removes mitochondrial RNA poly(A) tails and controls translation in human mitochondria

mtRF1a is a human mitochondrial translation release factor decoding the major termination codons UAA and UAG

The human mitochondrial ribosome recycling factor is essential for cell viability

Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation

Injury and differentiation following inhibition of mitochondrial respiratory chain complex IV in rat oligodendrocytes

MRM2 and MRM3 are involved in biogenesis of the large subunit of the mitochondrial ribosome.

C7orf30 is necessary for biogenesis of the large subunit of the mitochondrial ribosome

TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies

Alternative translation initiation augments the human mitochondrial proteome

MPV17L2 is required for ribosome assembly in mitochondria

Amino acid starvation has opposite effects on mitochondrial and cytosolic protein synthesis

Near-complete elimination of mutant mtDNA by iterative or dynamic dose-controlled treatment with mtZFNs

Mitochondria: Mitochondrial RNA metabolism and human disease

Human mitochondrial ribosomes can switch their structural RNA composition.

Myosin VI-Dependent Actin Cages Encapsulate Parkin-Positive Damaged Mitochondria

Maturation of selected human mitochondrial tRNAs requires deadenylation.

Polyadenylation in Bacteria and Organelles

Human Cytomegalovirus Infection Upregulates the Mitochondrial Transcription and Translation Machineries

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome

Human mitochondrial ribosomes can switch structural tRNAs - but when and why?

The human RNA-binding protein RBFA promotes the maturation of the mitochondrial ribosome

Ribosome origami

C6orf203 is an RNA-binding protein involved in mitochondrial protein synthesis

Macropinocytic entry of isolated mitochondria in epidermal growth factor-activated human osteosarcoma cells

MitoRibo-Tag Mice Provide a Tool for In Vivo Studies of Mitoribosome Composition

Human GTPBP5 is involved in the late stage of mitoribosome large subunit assembly

Distinct pre-initiation steps in human mitochondrial translation

Mechanism of mitoribosomal small subunit biogenesis and preinitiation

ANGEL2 phosphatase activity is required for non-canonical mitochondrial RNA processing

YbeY is required for ribosome small subunit assembly and tRNA processing in human mitochondria

Aberrant splicing in neuroblastoma generates RNA-fusion transcripts and provides vulnerability to spliceosome inhibitors