List of works - Christopher A. Powell

PrimPol, an archaic primase/polymerase operating in human cells

scientific article

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

scientific journal article

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

scientific article

VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies

scientific article published on 24 June 2014

Mitochondrial transcript maturation and its disorders

scientific article published on 28 May 2015

Nuclear-encoded factors involved in post-transcriptional processing and modification of mitochondrial tRNAs in human disease.

scientific article published on 10 March 2015

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

scientific journal article

Regulation of Mammalian Mitochondrial Gene Expression: Recent Advances

scientific article published on 9 March 2017

Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder.

scientific article published on 18 March 2015

Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2).

scientific article published in February 2015

Human mitochondrial ribosomes can switch their structural RNA composition.

scientific article published on 11 October 2016

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

scientific article published on 12 January 2017

TRNT1 deficiency: clinical, biochemical and molecular genetic features

scientific article published on 02 July 2016

Maturation of selected human mitochondrial tRNAs requires deadenylation.

scientific article

New insights into the phenotype of FARS2 deficiency

scientific article published on 12 October 2017

Dealing with an Unconventional Genetic Code in Mitochondria: The Biogenesis and Pathogenic Defects of the 5-Formylcytosine Modification in Mitochondrial tRNAMet.

scientific article published on 2 March 2017

Author response: Disruption of the TCA cycle reveals an ATF4-dependent integration of redox and amino acid metabolism

Disruption of the TCA cycle reveals an ATF4-dependent integration of redox and amino acid metabolism

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing

scientific article published on 18 June 2019

Disruption of the TCA cycle reveals an ATF4-dependent integration of redox and amino acid metabolism

scientific article published in 2021

An inherited mtDNA mutation remodels inflammatory cytokine responses in macrophages and in vivo

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency

scientific article published on 31 October 2020

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing

article

List of works by Christopher A. Powell

PrimPol, an archaic primase/polymerase operating in human cells

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

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

VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies

Mitochondrial transcript maturation and its disorders

Nuclear-encoded factors involved in post-transcriptional processing and modification of mitochondrial tRNAs in human disease.

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

Regulation of Mammalian Mitochondrial Gene Expression: Recent Advances

Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder.

Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2).

Human mitochondrial ribosomes can switch their structural RNA composition.

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

TRNT1 deficiency: clinical, biochemical and molecular genetic features

Maturation of selected human mitochondrial tRNAs requires deadenylation.

New insights into the phenotype of FARS2 deficiency

Dealing with an Unconventional Genetic Code in Mitochondria: The Biogenesis and Pathogenic Defects of the 5-Formylcytosine Modification in Mitochondrial tRNAMet.

Author response: Disruption of the TCA cycle reveals an ATF4-dependent integration of redox and amino acid metabolism

Disruption of the TCA cycle reveals an ATF4-dependent integration of redox and amino acid metabolism

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing

Disruption of the TCA cycle reveals an ATF4-dependent integration of redox and amino acid metabolism

An inherited mtDNA mutation remodels inflammatory cytokine responses in macrophages and in vivo

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing