List of works - Thomas J Nicholls

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

scientific article

In D-loop: 40 years of mitochondrial 7S DNA.

scientific article published on 04 April 2014

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

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

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

scientific article

Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA.

scientific article published on 14 December 2017

Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease

scientific article

Mitochondria: Mitochondrial RNA metabolism and human disease

scientific article published on January 17, 2013

MGME1 processes flaps into ligatable nicks in concert with DNA polymerase γ during mtDNA replication

scientific article

Mice lacking the mitochondrial exonuclease MGME1 accumulate mtDNA deletions without developing progeria.

scientific article published on 23 March 2018

Separating and Segregating the Human Mitochondrial Genome

scientific article published on 14 September 2018

Mitochondrially-targeted APOBEC1 is a potent mtDNA mutator affecting mitochondrial function and organismal fitness in Drosophila

scientific article published on 23 July 2019

Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level

scientific article published on 01 August 2019

Mammalian RNase H1 directs RNA primer formation for mtDNA replication initiation and is also necessary for mtDNA replication completion

scientific article published on 10 August 2022

Recurrent horizontal transfer identifies mitochondrial positive selection in a transmissible cancer

scientific article published on 16 June 2020

The Maintenance of Mitochondrial DNA Integrity and Dynamics by Mitochondrial Membranes

scientific article published on 26 August 2020

Dinucleotide Degradation by REXO2 Maintains Promoter Specificity in Mammalian Mitochondria

scientific article published on 03 October 2019

List of works by Thomas J Nicholls

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

In D-loop: 40 years of mitochondrial 7S DNA.

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

Mitochondrial transcript maturation and its disorders

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

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

Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA.

Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease

Mitochondria: Mitochondrial RNA metabolism and human disease

MGME1 processes flaps into ligatable nicks in concert with DNA polymerase γ during mtDNA replication

Mice lacking the mitochondrial exonuclease MGME1 accumulate mtDNA deletions without developing progeria.

Separating and Segregating the Human Mitochondrial Genome

Mitochondrially-targeted APOBEC1 is a potent mtDNA mutator affecting mitochondrial function and organismal fitness in Drosophila

Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level

Mammalian RNase H1 directs RNA primer formation for mtDNA replication initiation and is also necessary for mtDNA replication completion

Recurrent horizontal transfer identifies mitochondrial positive selection in a transmissible cancer

The Maintenance of Mitochondrial DNA Integrity and Dynamics by Mitochondrial Membranes

Dinucleotide Degradation by REXO2 Maintains Promoter Specificity in Mammalian Mitochondria