List of works - Lambert P van den Heuvel

Reconstructing the evolution of the mitochondrial ribosomal proteome.

scientific article published on 29 June 2007

Mitochondrial complex I: structure, function and pathology

scientific article published on 11 July 2006

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

scientific article published on 01 March 2007

Mitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficiencies

scientific article

Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies

scientific article

Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency

scientific article

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

scientific article

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

scientific article published on August 2006

Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency

scientific article

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

scientific article

Whole exome sequencing of suspected mitochondrial patients in clinical practice.

scientific article published on 4 March 2015

Human mitochondrial complex I assembly is mediated by NDUFAF1.

scientific article

Novel conditionally immortalized human proximal tubule cell line expressing functional influx and efflux transporters

scientific article

NDUFA2 complex I mutation leads to Leigh disease

scientific article

Pathological mutations of the human NDUFS4 gene of the 18-kDa (AQDQ) subunit of complex I affect the expression of the protein and the assembly and function of the complex

scientific article (publication date: 7 November 2003)

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

Stem cell microvesicles transfer cystinosin to human cystinotic cells and reduce cystine accumulation in vitro.

scientific article

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

scientific article

Inhibition of mitochondrial Na+-Ca2+ exchange restores agonist-induced ATP production and Ca2+ handling in human complex I deficiency.

scientific article

Receptor-mediated endocytosis and endosomal acidification is impaired in proximal tubule epithelial cells of Dent disease patients

scientific article published on 9 April 2013

Bcl-2 prevents loss of mitochondria in CCCP-induced apoptosis

scientific article published in October 2004

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

scientific article published on 16 November 2008

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

scientific article published on 16 March 2006

Adenine nucleotide translocator 1 deficiency associated with Sengers syndrome

scientific article

Quantitative proteome profiling of respiratory virus-infected lung epithelial cells

scientific article

A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy

scientific article

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

scientific article

Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy

scientific article published on December 29, 2010

Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation

scientific journal article

Altered status of glutathione and its metabolites in cystinotic cells

scientific article

Decreased intracellular ATP content and intact mitochondrial energy generating capacity in human cystinotic fibroblasts

scientific article

Cystinosis: a review

scientific article

Cystinosis: practical tools for diagnosis and treatment

scientific article

Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene

scientific article published on November 1, 2003

Evolution of a new enzyme for carbon disulphide conversion by an acidothermophilic archaeon

scientific article

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

scientific journal article

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

scientific article (publication date: 2013)

Mitochondrial enzymes discriminate between mitochondrial disorders and chronic fatigue syndrome

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

Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene.

scientific article

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

scientific article

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

scientific article published on 21 January 2013

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

scientific article published on 21 March 2010

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

scientific article

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

scientific article

Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation

scientific article

Improved parametric time warping for proteomics

article published in 2010

Optimized spectrophotometric assay for the completely activated pyruvate dehydrogenase complex in fibroblasts

scientific article published on 18 November 2004

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

scientific article

Complex I assembly: a puzzling problem.

scientific article published on April 2004

List of works by Lambert P van den Heuvel

Reconstructing the evolution of the mitochondrial ribosomal proteome.

Mitochondrial complex I: structure, function and pathology

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

Mitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficiencies

Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies

Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency

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

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

Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency

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

Whole exome sequencing of suspected mitochondrial patients in clinical practice.

Human mitochondrial complex I assembly is mediated by NDUFAF1.

Novel conditionally immortalized human proximal tubule cell line expressing functional influx and efflux transporters

NDUFA2 complex I mutation leads to Leigh disease

Pathological mutations of the human NDUFS4 gene of the 18-kDa (AQDQ) subunit of complex I affect the expression of the protein and the assembly and function of the complex

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

Stem cell microvesicles transfer cystinosin to human cystinotic cells and reduce cystine accumulation in vitro.

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

Inhibition of mitochondrial Na+-Ca2+ exchange restores agonist-induced ATP production and Ca2+ handling in human complex I deficiency.

Receptor-mediated endocytosis and endosomal acidification is impaired in proximal tubule epithelial cells of Dent disease patients

Bcl-2 prevents loss of mitochondria in CCCP-induced apoptosis

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

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

Adenine nucleotide translocator 1 deficiency associated with Sengers syndrome

Quantitative proteome profiling of respiratory virus-infected lung epithelial cells

A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy

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

Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy

Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation

Altered status of glutathione and its metabolites in cystinotic cells

Decreased intracellular ATP content and intact mitochondrial energy generating capacity in human cystinotic fibroblasts

Cystinosis: a review

Cystinosis: practical tools for diagnosis and treatment

Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene

Evolution of a new enzyme for carbon disulphide conversion by an acidothermophilic archaeon

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

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

Mitochondrial enzymes discriminate between mitochondrial disorders and chronic fatigue syndrome

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

Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene.

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

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

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

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

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

Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation

Improved parametric time warping for proteomics

Optimized spectrophotometric assay for the completely activated pyruvate dehydrogenase complex in fibroblasts

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

Complex I assembly: a puzzling problem.