List of works - Jan A M Smeitink

A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy

scientific article

A novel mutation in COQ2 leading to fatal infantile multisystem disease.

scientific article published on 21 January 2013

Acute stimulation of glucose influx upon mitoenergetic dysfunction requires LKB1, AMPK, Sirt2 and mTOR-RAPTOR.

scientific article published on 28 October 2016

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)

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

scientific article published in July 2009

Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy

scientific article published on 16 November 2008

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

scientific article published on 01 April 2006

Feeding difficulties, a key feature of the Drosophila NDUFS4 mitochondrial disease model.

scientific article published on 27 March 2018

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

scientific article

High-throughput assay to measure oxygen consumption in digitonin-permeabilized cells of patients with mitochondrial disorders.

scientific article published on 31 December 2009

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

scientific article published in May 2012

KH176 Safeguards Mitochondrial Diseased Cells from Redox Stress-Induced Cell Death by Interacting with the Thioredoxin System/Peroxiredoxin Enzyme Machinery.

scientific article published on 26 April 2018

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

scientific article

Measurement of the Energy-Generating Capacity of Human Muscle Mitochondria: Diagnostic Procedure and Application to Human Pathology

scientific article published on 16 March 2006

Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?

scientific article published on 07 July 2012

Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.

scientific article

Mitochondrial dysfunction in Brooks-Wisniewski-Brown syndrome.

scientific article published in April 2006

Mitochondrial energy production correlates with the age-related BMI.

scientific article

Molecular base of biochemical complex I deficiency.

scientific article published on 20 July 2012

Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system.

scientific article

Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle

scientific article

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

scientific journal 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

New nuclear encoded mitochondrial mutation illustrates pitfalls in prenatal diagnosis by biochemical methods.

scientific article published in May 2002

New treatments for mitochondrial disease-no time to drop our standards

scientific article published on 02 July 2013

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

scientific article published on 21 March 2010

Pathogenic variants in glutamyl-tRNA amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder

scientific article published in Nature Communications

Restoration of complex V deficiency caused by a novel deletion in the human TMEM70 gene normalizes mitochondrial morphology

article

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

scientific article published on August 2006

Spectrophotometric Assay for Complex I of the Respiratory Chain in Tissue Samples and Cultured Fibroblasts

scientific article published on 01 March 2007

The genotypic and phenotypic spectrum of MTO1 deficiency.

scientific article published on 15 November 2017

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

scientific article

Whole exome sequencing of suspected mitochondrial patients in clinical practice.

scientific article published on 4 March 2015

List of works by Jan A M Smeitink

A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy

A novel mutation in COQ2 leading to fatal infantile multisystem disease.

Acute stimulation of glucose influx upon mitoenergetic dysfunction requires LKB1, AMPK, Sirt2 and mTOR-RAPTOR.

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

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

Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy

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

Feeding difficulties, a key feature of the Drosophila NDUFS4 mitochondrial disease model.

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

High-throughput assay to measure oxygen consumption in digitonin-permeabilized cells of patients with mitochondrial disorders.

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

KH176 Safeguards Mitochondrial Diseased Cells from Redox Stress-Induced Cell Death by Interacting with the Thioredoxin System/Peroxiredoxin Enzyme Machinery.

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

Measurement of the Energy-Generating Capacity of Human Muscle Mitochondria: Diagnostic Procedure and Application to Human Pathology

Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?

Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.

Mitochondrial dysfunction in Brooks-Wisniewski-Brown syndrome.

Mitochondrial energy production correlates with the age-related BMI.

Molecular base of biochemical complex I deficiency.

Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system.

Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle

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

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

NDUFA2 complex I mutation leads to Leigh disease

New nuclear encoded mitochondrial mutation illustrates pitfalls in prenatal diagnosis by biochemical methods.

New treatments for mitochondrial disease-no time to drop our standards

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

Pathogenic variants in glutamyl-tRNA amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder

Restoration of complex V deficiency caused by a novel deletion in the human TMEM70 gene normalizes mitochondrial morphology

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

Spectrophotometric Assay for Complex I of the Respiratory Chain in Tissue Samples and Cultured Fibroblasts

The genotypic and phenotypic spectrum of MTO1 deficiency.

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

Whole exome sequencing of suspected mitochondrial patients in clinical practice.