List of works - Lambert P van den Heuvel

A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy

scientific article

A comprehensive full factorial LC-MS/MS proteomics benchmark data set.

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

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

scientific article

Adenine nucleotide translocator 1 deficiency associated with Sengers syndrome

scientific article

Altered status of glutathione and its metabolites in cystinotic cells

scientific article

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

scientific article (publication date: 2013)

B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement

scientific article published on 13 September 2011

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

scientific article published in July 2009

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

scientific article published in October 2004

Belgian consensus statement on the diagnosis and management of patients with atypical hemolytic uremic syndrome.

scientific article

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

scientific article published on 16 November 2008

Chronic progressive external ophthalmoplegia caused by an m.4267A > G mutation in the mitochondrial tRNAIle

scientific article published on 02 November 2007

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

scientific article published on 01 April 2006

Clinical utility gene card for: cystinosis

scientific article published on 18 September 2013

Clinical utility of chitotriosidase enzyme activity in nephropathic cystinosis.

scientific article

Complex I assembly: a puzzling problem.

scientific article published on April 2004

Cystinosis (ctns) zebrafish mutant shows pronephric glomerular and tubular dysfunction.

scientific article

Cystinosis: a review

scientific article

Cystinosis: practical tools for diagnosis and treatment

scientific article

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

scientific article

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

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

Encephalomyopathy and optic atrophy with tall stature and mitochondrial dysfunction: a new syndrome

scientific article published on 01 April 2007

Endo-lysosomal dysfunction in human proximal tubular epithelial cells deficient for lysosomal cystine transporter cystinosin

scientific article

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

scientific article

Females with PDHA1 gene mutations: a diagnostic challenge.

scientific article

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

scientific article

Genetic defects in the oxidative phosphorylation (OXPHOS) system

scientific article published on March 2004

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

scientific journal article

Human mitochondrial complex I assembly is mediated by NDUFAF1.

scientific article

Hyperhomocysteinemia: a trigger for complement-mediated TMA?

scientific article published on 11 August 2019

Immunomodulatory Effects of Chitotriosidase Enzyme

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

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

scientific article published in May 2012

Improved parametric time warping for proteomics

article published in 2010

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

scientific article

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

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

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

Microbial mito-pathogens: fact or fiction?

scientific article published on 07 September 2007

Microbial proteinase inside human cells as anti-mitochondrial activity: a new virulence factor in infectious diseases?

scientific article published on 07 September 2007

Mild intracellular acidification by dexamethasone attenuates mitochondrial dysfunction in a human inflammatory proximal tubule epithelial cell model.

scientific article published on 6 September 2017

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 complex I: structure, function and pathology

scientific article published on 11 July 2006

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 dysfunction in muscle tissue of complex regional pain syndrome type I patients

scientific article published on 22 January 2011

Mitochondrial energy production correlates with the age-related BMI.

scientific article

Mitochondrial enzymes discriminate between mitochondrial disorders and chronic fatigue syndrome

article

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

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

Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency

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

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

scientific article

Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic Cystinosis.

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 PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness

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

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

scientific article published in May 2002

New perspectives on the assembly process of mitochondrial respiratory chain complex cytochrome c oxidase.

scientific article published in November 2002

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

scientific article

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

scientific article published on 21 March 2010

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

scientific article published on 18 November 2004

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)

Pinpointing biomarkers in proteomic LC/MS data by moving-window discriminant analysis

scientific article

Proteomics approaches to study genetic and metabolic disorders

scientific article published on February 2007

Quantitative proteome profiling of respiratory virus-infected lung epithelial cells

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

Reconstructing the evolution of the mitochondrial ribosomal proteome.

scientific article published on 29 June 2007

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

article

Role of p-glycoprotein expression and function in cystinotic renal proximal tubular cells

scientific article published on 27 October 2011

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

scientific article published on August 2006

Sequence analysis of the structural nuclear encoded subunits and assembly genes of cytochrome c oxidase in a cohort of 10 isolated complex IV-deficient patients revealed five mutations

scientific article published on 01 June 2006

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

scientific article published on 01 March 2007

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

scientific article

Whole exome sequencing of suspected mitochondrial patients in clinical practice.

scientific article published on 4 March 2015

List of works by Lambert P van den Heuvel

A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy

A comprehensive full factorial LC-MS/MS proteomics benchmark data set.

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.

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

Adenine nucleotide translocator 1 deficiency associated with Sengers syndrome

Altered status of glutathione and its metabolites in cystinotic cells

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

B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement

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

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

Belgian consensus statement on the diagnosis and management of patients with atypical hemolytic uremic syndrome.

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

Chronic progressive external ophthalmoplegia caused by an m.4267A > G mutation in the mitochondrial tRNAIle

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

Clinical utility gene card for: cystinosis

Clinical utility of chitotriosidase enzyme activity in nephropathic cystinosis.

Complex I assembly: a puzzling problem.

Cystinosis (ctns) zebrafish mutant shows pronephric glomerular and tubular dysfunction.

Cystinosis: a review

Cystinosis: practical tools for diagnosis and treatment

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

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

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

Encephalomyopathy and optic atrophy with tall stature and mitochondrial dysfunction: a new syndrome

Endo-lysosomal dysfunction in human proximal tubular epithelial cells deficient for lysosomal cystine transporter cystinosin

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

Females with PDHA1 gene mutations: a diagnostic challenge.

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

Genetic defects in the oxidative phosphorylation (OXPHOS) system

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

Human mitochondrial complex I assembly is mediated by NDUFAF1.

Hyperhomocysteinemia: a trigger for complement-mediated TMA?

Immunomodulatory Effects of Chitotriosidase Enzyme

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

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

Improved parametric time warping for proteomics

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

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

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

Microbial mito-pathogens: fact or fiction?

Microbial proteinase inside human cells as anti-mitochondrial activity: a new virulence factor in infectious diseases?

Mild intracellular acidification by dexamethasone attenuates mitochondrial dysfunction in a human inflammatory proximal tubule epithelial cell model.

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

Mitochondrial complex I: structure, function and pathology

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

Mitochondrial dysfunction in Brooks-Wisniewski-Brown syndrome

Mitochondrial dysfunction in muscle tissue of complex regional pain syndrome type I patients

Mitochondrial energy production correlates with the age-related BMI.

Mitochondrial enzymes discriminate between mitochondrial disorders and chronic fatigue syndrome

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

Molecular base of biochemical complex I deficiency.

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

Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency

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

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

Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic Cystinosis.

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 PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness

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 perspectives on the assembly process of mitochondrial respiratory chain complex cytochrome c oxidase.

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

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

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

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

Pinpointing biomarkers in proteomic LC/MS data by moving-window discriminant analysis

Proteomics approaches to study genetic and metabolic disorders

Quantitative proteome profiling of respiratory virus-infected lung epithelial cells

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

Reconstructing the evolution of the mitochondrial ribosomal proteome.

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

Role of p-glycoprotein expression and function in cystinotic renal proximal tubular cells

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