List of works - Leo G J Nijtmans

A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy

scientific article

A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.

scientific article published on 2 November 2012

A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability

scientific article

A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy.

scientific article published on 23 January 2009

Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I

scientific article

Analysis of 953 human proteins from a mitochondrial HEK293 fraction by complexome profiling

scientific article (publication date: 2013)

BOLA1 is an aerobic protein that prevents mitochondrial morphology changes induced by glutathione depletion

scientific journal article

Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency.

scientific article published in July 2009

C7orf30 specifically associates with the large subunit of the mitochondrial ribosome and is involved in translation

scientific article

Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations

scientific article published on 01 April 2006

Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects.

scientific article

Impaired ubiquitin-proteasome-mediated PGC-1α protein turnover and induced mitochondrial biogenesis secondary to complex-I deficiency.

scientific article published in May 2012

Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidase

scientific article

LC-MS/MS as an alternative for SDS-PAGE in blue native analysis of protein complexes

scientific article

Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy

scientific journal article

Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease

scientific article

Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression

scientific article

NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease

scientific article

NDUFA2 complex I mutation leads to Leigh disease

scientific article

NDUFB7 and NDUFA8 are located at the intermembrane surface of complex I

scientific article

Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies

scientific article published on 21 March 2010

Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins.

scientific article published on August 2006

TEFM (c17orf42) is necessary for transcription of human mtDNA

scientific article

List of works by Leo G J Nijtmans

A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy

A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.

A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability

A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy.

Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I

Analysis of 953 human proteins from a mitochondrial HEK293 fraction by complexome profiling

BOLA1 is an aerobic protein that prevents mitochondrial morphology changes induced by glutathione depletion

Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency.

C7orf30 specifically associates with the large subunit of the mitochondrial ribosome and is involved in translation

Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations

Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects.

Impaired ubiquitin-proteasome-mediated PGC-1α protein turnover and induced mitochondrial biogenesis secondary to complex-I deficiency.

Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidase

LC-MS/MS as an alternative for SDS-PAGE in blue native analysis of protein complexes

Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy

Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease

Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression

NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease

NDUFA2 complex I mutation leads to Leigh disease

NDUFB7 and NDUFA8 are located at the intermembrane surface of complex I

Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies

Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins.

TEFM (c17orf42) is necessary for transcription of human mtDNA