Lista de obras - 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

artículo científico publicado en 2010

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

artículo científico publicado en 2014

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

artículo científico publicado en 1993

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

artículo científico publicado en 2004

A splice junction mutation in muscle carnitine palmitoyltransferase II deficiency

artículo científico publicado en 2003

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

artículo científico publicado en 2014

Absence of expression from RNA internalised into electroporated mammalian mitochondria

artículo científico publicado en 2001

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

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 1999

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 ⬇️

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2010

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

artículo científico publicado en 2010

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

artículo científico publicado en 2000

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

artículo científico

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

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 2004

GRSF1 regulates RNA processing in mitochondrial RNA granules.

artículo científico publicado en 2013

Gene therapy for mitochondrial DNA defects: is it possible?

artículo científico publicado en 1995

Glutamate dehydrogenase: an organelle-specific mRNA-binding protein

artículo científico publicado en 1997

How much does a disrupted mitochondrial network influence neuronal dysfunction?

artículo científico publicado en 2019

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

artículo científico publicado en 2014

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

artículo científico publicado en 2010

Human mitochondrial nucleases.

artículo científico publicado en 2016

Human mitochondrial ribosomes can switch their structural RNA composition.

artículo científico publicado en 2016

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

artículo científico

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

artículo científico publicado en 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

artículo científico publicado en 1997

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

artículo científico publicado en 2004

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

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 2002

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

artículo científico publicado en 2014

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

artículo científico publicado en 2020

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

artículo científico publicado en 2009

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

artículo científico publicado en 2003

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

artículo científico publicado en 2013

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

artículo científico publicado en 2010

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

artículo científico publicado en 2013

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

artículo científico publicado en 2004

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

artículo científico publicado en 2010

Overcoming stalled translation in human mitochondria

artículo científico publicado en 2014

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

artículo científico publicado en 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.

artículo científico publicado en 2016

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

artículo científico publicado en 2008

Production of transmitochondrial cybrids containing naturally occurring pathogenic mtDNA variants.

artículo científico publicado en 2006

REXO2 is an oligoribonuclease active in human mitochondria.

artículo científico publicado en 2013

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?

artículo científico publicado en 2020

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

artículo científico publicado en 2015

SLIRP stabilizes LRPPRC via an RRM-PPR protein interface

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

artículo científico publicado en 2005

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

artículo científico

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

artículo científico publicado en 2004

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

artículo científico publicado en 2017

Structure based hypothesis of a mitochondrial ribosome rescue mechanism

artículo científico publicado en 2012

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.

artículo científico publicado en 1991

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

artículo científico publicado en 2002

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

artículo científico publicado en 2010

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

artículo científico publicado en 1996

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

scientific article published on 08 May 2010

Termination of Protein Synthesis in Mammalian Mitochondria ⬇️

artículo científico publicado el 26 de agosto de 2011

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

artículo científico publicado en 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

artículo científico publicado en 2000

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

artículo científico publicado en 2017

The human mitochondrial ribosome recycling factor is essential for cell viability

artículo científico publicado en 2008

The mRNA-binding protein COLBP is glutamate dehydrogenase

article

The mystery of mitochondrial RNases.

artículo científico

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

artículo científico publicado el 6 de septiembre de 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.

artículo científico publicado en 2015

The process of mammalian mitochondrial protein synthesis.

artículo científico publicado en 2016

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

artículo científico publicado en 2013

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

article

Translation termination in human mitochondrial ribosomes.

artículo científico publicado en 2010

Using mitoribosomal profiling to investigate human mitochondrial translation.

artículo científico publicado en 2017

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

artículo científico publicado en 2007

mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect

article

Lista de obras de 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