List of works - Robert N Lightowlers

A high frequency of mtDNA polymorphisms in HeLa cell sublines

scientific article published in April 2002

A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy

scientific article published in May 2003

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

scientific article

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

scientific article published on October 2015

Age-associated mitochondrial DNA mutations lead to small but significant changes in cell proliferation and apoptosis in human colonic crypts

scientific article

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

scientific article published on 19 September 2017

Bridging PNAs can bind preferentially to a deleted mitochondrial DNA template but replication by mitochondrial DNA polymerase γ in vitro is not impaired ⬇️

scientific article published on October 1, 2003

Changes in the human mitochondrial genome after treatment of malignant disease

scientific article published in April 2003

ClickIn: a flexible protocol for quantifying mitochondrial uptake of nucleobase derivatives

scientific article published on April 2017

How much does a disrupted mitochondrial network influence neuronal dysfunction?

scientific article published on 01 January 2019

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

scientific article published on 27 October 2015

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

Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation

scientific article published on 22 January 2002

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 causing mitochondrial disease: What is new and what challenges remain?

scientific article published on 24 September 2015

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

scientific article published on 17 December 2010

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

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

scientific article published on 30 September 2016

Preferential amplification of a human mitochondrial DNA deletion in vitro and in vivo

scientific article published on 29 January 2018

Production of transmitochondrial cybrids containing naturally occurring pathogenic mtDNA variants.

scientific article published on 2 August 2006

Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease

scientific article

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

scientific article published on 02 January 2020

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

scientific article

Strategies for treating disorders of the mitochondrial genome

scientific article

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

scientific article published on 12 January 2017

What causes mitochondrial DNA deletions in human cells?

scientific article published on March 2008

mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect

article

List of works by Robert N Lightowlers

A high frequency of mtDNA polymorphisms in HeLa cell sublines

A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy

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

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

Age-associated mitochondrial DNA mutations lead to small but significant changes in cell proliferation and apoptosis in human colonic crypts

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

Bridging PNAs can bind preferentially to a deleted mitochondrial DNA template but replication by mitochondrial DNA polymerase γ in vitro is not impaired ⬇️

Changes in the human mitochondrial genome after treatment of malignant disease

ClickIn: a flexible protocol for quantifying mitochondrial uptake of nucleobase derivatives

How much does a disrupted mitochondrial network influence neuronal dysfunction?

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

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

Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation

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

Mutations causing mitochondrial disease: What is new and what challenges remain?

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

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

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

Preferential amplification of a human mitochondrial DNA deletion in vitro and in vivo

Production of transmitochondrial cybrids containing naturally occurring pathogenic mtDNA variants.

Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease

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

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

Strategies for treating disorders of the mitochondrial genome

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

What causes mitochondrial DNA deletions in human cells?

mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect