List of works - Zofia M Chrzanowska-Lightowlers

175th ENMC International Workshop: Mitochondrial protein synthesis in health and disease, 25–27th June 2010, Naarden, The Netherlands

article

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

scientific article

A human mitochondrial poly(A) polymerase mutation reveals the complexities of post-transcriptional mitochondrial gene expression.

scientific article

A microtiter plate assay for cytochrome c oxidase in permeabilized whole cells

scientific article published on October 1993

A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome

scientific article published in June 2004

A splice junction mutation in muscle carnitine palmitoyltransferase II deficiency

scientific article published on 01 June 2003

A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency

scientific article

Absence of expression from RNA internalised into electroporated mammalian mitochondria

scientific article published on 01 June 2001

Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease

scientific article published on October 2015

An Antisense Oligodeoxynucleotide Approach to Investigate the Function of the Nuclear-Encoded Subunits of Human Cytochrome c Oxidase

scientific article published on 01 October 1993

An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy

scientific article

Annexin A2 binds to the localization signal in the 3′ untranslated region of c-myc mRNA

article

Autophagy impairment with lysosomal and mitochondrial dysfunction is an important characteristic of oxidative stress-induced senescence ⬇️

scientific article published on 28 October 2016

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies

scientific article published on 19 September 2017

Clinical, biochemical and genetic features associated with VARS2-related mitochondrial disease.

scientific article published on 3 January 2018

Conversion of a reporter gene for mitochondrial gene expression using iterative mega-prime PCR

article

Defective mitochondrial mRNA maturation is associated with spastic ataxia

scientific article

Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy.

scientific article

Does the mitochondrial transcription-termination complex play an essential role in controlling differential transcription of mitochondrial DNA?

scientific article published on 01 February 2000

Elongation factor 1alpha binds to the region of the metallothionein-1 mRNA implicated in perinuclear localization--importance of an internal stem-loop

scientific article published on 24 May 2006

Exploring our origins--the importance of OriL in mtDNA maintenance and replication

scientific article published on 13 November 2012

Fending off decay: a combinatorial approach in intact cells for identifying mRNA stability elements

scientific article published in March 2001

Fine mapping of interactions between eEF1alpha protein and 3'UTR of metallothionein-1 mRNA

scientific journal article

Functional polypeptides can be synthesized from human mitochondrial transcripts lacking termination codons

scientific article

GRSF1 regulates RNA processing in mitochondrial RNA granules.

scientific article published on March 2013

Gene therapy for mitochondrial DNA defects: is it possible?

scientific article

Glutamate dehydrogenase: an organelle-specific mRNA-binding protein

scientific article published on 01 August 1997

How much does a disrupted mitochondrial network influence neuronal dysfunction?

scientific article published on 01 January 2019

Human mitochondrial leucyl tRNA synthetase can suppress non cognate pathogenic mt-tRNA mutations

scientific article published on 10 January 2014

Human mitochondrial mRNAs--like members of all families, similar but different

scientific article published on 6 March 2010

Human mitochondrial nucleases.

scientific article published on 7 December 2016

Human mitochondrial ribosomes can switch their structural RNA composition.

scientific article published on 11 October 2016

Human pentatricopeptide proteins: only a few and what do they do?

scientific article published on 23 April 2013

Inhibition of mitochondrial protein synthesis promotes autonomous regulation of mtDNA expression and generation of a new mitochondrial RNA species

scientific article published in April 2001

Inhibition of mitochondrial protein synthesis promotes increased stability of nuclear-encoded respiratory gene transcripts

article

Interactions between peptidyl tRNA hydrolase homologs and the ribosomal release factor Mrf1 in S. pombe mitochondria.

scientific article published on 24 July 2013

Intracellular mitochondrial triplasmy in a patient with two heteroplasmic base changes

scientific article

Isolation and identification of a protein binding to the localization element of Metallothionein-1 mRNA.

scientific article

LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.

scientific article published on 27 October 2015

MHC class I expression protects target cells from lysis by Ly49-deficient fetal NK cells

scientific article published on 01 January 1998

MTO1 mediates tissue specificity of OXPHOS defects via tRNA modification and translation optimization, which can be bypassed by dietary intervention

scientific article

Mitochondrial dysfunction in a cell culture model of familial amyotrophic lateral sclerosis

scientific article published on July 2002

Mitochondrial protein synthesis: figuring the fundamentals, complexities and complications, of mammalian mitochondrial translation.

scientific article

Mitochondrial transplantation-a possible therapeutic for mitochondrial dysfunction?: Mitochondrial transfer is a potential cure for many diseases but proof of efficacy and safety is still lacking

scientific article published on 27 August 2020

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

scientific article published on 31 August 2009

Mu class glutathione S-transferase mRNA isoform expression in acute lymphoblastic leukaemia

scientific article

Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency

scientific article published on 24 October 2013

Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect

scientific article

Mutations in mitochondrial ribosomal protein MRPL12 leads to growth retardation, neurological deterioration and mitochondrial translation deficiency

scientific article published on 18 April 2013

Nuclear DNA-encoded tRNAs targeted into mitochondria can rescue a mitochondrial DNA mutation associated with the MERRF syndrome in cultured human cells.

scientific article

Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency

scientific article published on 17 December 2010

Overcoming stalled translation in human mitochondria

scientific article published on 18 July 2014

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

PPR (pentatricopeptide repeat) proteins in mammals: important aids to mitochondrial gene expression

article

Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria.

scientific article published on 30 September 2016

Polyadenylation and degradation of mRNA in mammalian mitochondria: a missing link?

scientific article

Production of transmitochondrial cybrids containing naturally occurring pathogenic mtDNA variants.

scientific article published on 2 August 2006

REXO2 is an oligoribonuclease active in human mitochondria.

scientific article

Recombinant human MDM2 oncoprotein shows sequence composition selectivity for binding to both RNA and DNA

article

Rescuing stalled mammalian mitoribosomes - what can we learn from bacteria?

scientific article published on 02 January 2020

Response to "Ribosome Rescue and Translation Termination at Non-standard Stop Codons by ICT1 in Mammalian Mitochondria"

scientific article published on 18 June 2015

SLIRP stabilizes LRPPRC via an RRM-PPR protein interface

scientific article published on 28 June 2016

Salvaging hope: Is increasing NAD(+) a key to treating mitochondrial myopathy?

scientific article published on 16 May 2014

Serum-deprivation stimulates cap-binding by PARN at the expense of eIF4E, consistent with the observed decrease in mRNA stability

scientific article

Sodium channel mRNAs at the neuromuscular junction: distinct patterns of accumulation and effects of muscle activity

scientific article

Sporadic Intragenic Inversion of the Mitochondrial DNA MTND1 Gene Causing Fatal Infantile Lactic Acidosis

article

Sporadic mitochondrial myopathy due to a new mutation in the mitochondrial tRNASer(UCN) gene

scientific article

Stochastic acquisition of Qa1 receptors during the development of fetal NK cells in vitro accounts in part but not in whole for the ability of these cells to distinguish between class I-sufficient and class I-deficient targets

article

Store-Operated Ca2+ Entry Controls Induction of Lipolysis and the Transcriptional Reprogramming to Lipid Metabolism

scientific article

Structure based hypothesis of a mitochondrial ribosome rescue mechanism

scientific article

Subunit function in eukaryote cytochrome c oxidase. A mutation in the nuclear-coded subunit IV allows assembly but alters the function and stability of yeast cytochrome c oxidase

scientific article published in April 1991

TGF-beta1 and IFN-gamma cross-regulate antigen presentation to CD4 T cells by macrophages

scientific article published on July 2002

Targeting of the cytosolic poly(A) binding protein PABPC1 to mitochondria causes mitochondrial translation inhibition

scientific article

Targeting proteins to mitochondria: is there a role for mRNA localization?

scientific article

Terminating human mitochondrial protein synthesis: a shift in our thinking.

scientific article published on 08 May 2010

Termination of Protein Synthesis in Mammalian Mitochondria ⬇️

scientific article published on August 26, 2011

Th1-type cytokine mRNA in rheumatoid arthritis mononuclear cells induced by streptococcal pyrogenic exotoxin A

scientific article published on 01 October 1999

The Mouse Tumor Cell Lines EL4 and RMA Display Mosaic Expression of NK-Related and Certain Other Surface Molecules and Appear to Have a Common Origin

scientific article published on 01 May 2000

The Pseudouridine Synthase RPUSD4 Is an Essential Component of Mitochondrial RNA Granules

scientific article published on 12 January 2017

The human mitochondrial ribosome recycling factor is essential for cell viability

scientific article published on 9 September 2008

The mRNA-binding protein COLBP is glutamate dehydrogenase

article

The mystery of mitochondrial RNases.

scientific article published on August 2012

The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families ⬇️

scientific article published on September 6, 2010

The presence of highly disruptive 16S rRNA mutations in clinical samples indicates a wider role for mutations of the mitochondrial ribosome in human disease.

scientific article published on 5 September 2015

The process of mammalian mitochondrial protein synthesis.

scientific article

The role of the mitochondrial ribosome in human disease: searching for mutations in 12S mitochondrial rRNA with high disruptive potential.

scientific article

The tissue-specific RNA-binding protein COLBP is differentially regulated during myogenesis

article

Translation termination in human mitochondrial ribosomes.

scientific article published on December 2010

Using mitoribosomal profiling to investigate human mitochondrial translation.

scientific article published on 11 December 2017

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

scientific article

mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect

article

List of works by Zofia M Chrzanowska-Lightowlers

175th ENMC International Workshop: Mitochondrial protein synthesis in health and disease, 25–27th June 2010, Naarden, The Netherlands

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

A human mitochondrial poly(A) polymerase mutation reveals the complexities of post-transcriptional mitochondrial gene expression.

A microtiter plate assay for cytochrome c oxidase in permeabilized whole cells

A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome

A splice junction mutation in muscle carnitine palmitoyltransferase II deficiency

A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency

Absence of expression from RNA internalised into electroporated mammalian mitochondria

Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease

An Antisense Oligodeoxynucleotide Approach to Investigate the Function of the Nuclear-Encoded Subunits of Human Cytochrome c Oxidase

An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy

Annexin A2 binds to the localization signal in the 3′ untranslated region of c-myc mRNA

Autophagy impairment with lysosomal and mitochondrial dysfunction is an important characteristic of oxidative stress-induced senescence ⬇️

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies

Clinical, biochemical and genetic features associated with VARS2-related mitochondrial disease.

Conversion of a reporter gene for mitochondrial gene expression using iterative mega-prime PCR

Defective mitochondrial mRNA maturation is associated with spastic ataxia

Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy.

Does the mitochondrial transcription-termination complex play an essential role in controlling differential transcription of mitochondrial DNA?

Elongation factor 1alpha binds to the region of the metallothionein-1 mRNA implicated in perinuclear localization--importance of an internal stem-loop

Exploring our origins--the importance of OriL in mtDNA maintenance and replication

Fending off decay: a combinatorial approach in intact cells for identifying mRNA stability elements

Fine mapping of interactions between eEF1alpha protein and 3'UTR of metallothionein-1 mRNA

Functional polypeptides can be synthesized from human mitochondrial transcripts lacking termination codons

GRSF1 regulates RNA processing in mitochondrial RNA granules.

Gene therapy for mitochondrial DNA defects: is it possible?

Glutamate dehydrogenase: an organelle-specific mRNA-binding protein

How much does a disrupted mitochondrial network influence neuronal dysfunction?

Human mitochondrial leucyl tRNA synthetase can suppress non cognate pathogenic mt-tRNA mutations

Human mitochondrial mRNAs--like members of all families, similar but different

Human mitochondrial nucleases.

Human mitochondrial ribosomes can switch their structural RNA composition.

Human pentatricopeptide proteins: only a few and what do they do?

Inhibition of mitochondrial protein synthesis promotes autonomous regulation of mtDNA expression and generation of a new mitochondrial RNA species

Inhibition of mitochondrial protein synthesis promotes increased stability of nuclear-encoded respiratory gene transcripts

Interactions between peptidyl tRNA hydrolase homologs and the ribosomal release factor Mrf1 in S. pombe mitochondria.

Intracellular mitochondrial triplasmy in a patient with two heteroplasmic base changes

Isolation and identification of a protein binding to the localization element of Metallothionein-1 mRNA.

LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.

MHC class I expression protects target cells from lysis by Ly49-deficient fetal NK cells

MTO1 mediates tissue specificity of OXPHOS defects via tRNA modification and translation optimization, which can be bypassed by dietary intervention

Mitochondrial dysfunction in a cell culture model of familial amyotrophic lateral sclerosis

Mitochondrial protein synthesis: figuring the fundamentals, complexities and complications, of mammalian mitochondrial translation.

Mitochondrial transplantation-a possible therapeutic for mitochondrial dysfunction?: Mitochondrial transfer is a potential cure for many diseases but proof of efficacy and safety is still lacking

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

Mu class glutathione S-transferase mRNA isoform expression in acute lymphoblastic leukaemia

Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency

Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect

Mutations in mitochondrial ribosomal protein MRPL12 leads to growth retardation, neurological deterioration and mitochondrial translation deficiency

Nuclear DNA-encoded tRNAs targeted into mitochondria can rescue a mitochondrial DNA mutation associated with the MERRF syndrome in cultured human cells.

Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency

Overcoming stalled translation in human mitochondria

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

PPR (pentatricopeptide repeat) proteins in mammals: important aids to mitochondrial gene expression

Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria.

Polyadenylation and degradation of mRNA in mammalian mitochondria: a missing link?

Production of transmitochondrial cybrids containing naturally occurring pathogenic mtDNA variants.

REXO2 is an oligoribonuclease active in human mitochondria.

Recombinant human MDM2 oncoprotein shows sequence composition selectivity for binding to both RNA and DNA

Rescuing stalled mammalian mitoribosomes - what can we learn from bacteria?

Response to "Ribosome Rescue and Translation Termination at Non-standard Stop Codons by ICT1 in Mammalian Mitochondria"

SLIRP stabilizes LRPPRC via an RRM-PPR protein interface

Salvaging hope: Is increasing NAD(+) a key to treating mitochondrial myopathy?

Serum-deprivation stimulates cap-binding by PARN at the expense of eIF4E, consistent with the observed decrease in mRNA stability

Sodium channel mRNAs at the neuromuscular junction: distinct patterns of accumulation and effects of muscle activity

Sporadic Intragenic Inversion of the Mitochondrial DNA MTND1 Gene Causing Fatal Infantile Lactic Acidosis

Sporadic mitochondrial myopathy due to a new mutation in the mitochondrial tRNASer(UCN) gene

Stochastic acquisition of Qa1 receptors during the development of fetal NK cells in vitro accounts in part but not in whole for the ability of these cells to distinguish between class I-sufficient and class I-deficient targets

Store-Operated Ca2+ Entry Controls Induction of Lipolysis and the Transcriptional Reprogramming to Lipid Metabolism

Structure based hypothesis of a mitochondrial ribosome rescue mechanism

Subunit function in eukaryote cytochrome c oxidase. A mutation in the nuclear-coded subunit IV allows assembly but alters the function and stability of yeast cytochrome c oxidase

TGF-beta1 and IFN-gamma cross-regulate antigen presentation to CD4 T cells by macrophages

Targeting of the cytosolic poly(A) binding protein PABPC1 to mitochondria causes mitochondrial translation inhibition

Targeting proteins to mitochondria: is there a role for mRNA localization?

Terminating human mitochondrial protein synthesis: a shift in our thinking.

Termination of Protein Synthesis in Mammalian Mitochondria ⬇️

Th1-type cytokine mRNA in rheumatoid arthritis mononuclear cells induced by streptococcal pyrogenic exotoxin A

The Mouse Tumor Cell Lines EL4 and RMA Display Mosaic Expression of NK-Related and Certain Other Surface Molecules and Appear to Have a Common Origin

The Pseudouridine Synthase RPUSD4 Is an Essential Component of Mitochondrial RNA Granules