Lambert P. van den Heuvel spends much of his time researching Genetics, Mitochondrion, Gene, Mutation and Oxidative phosphorylation. His study in NDUFS4, NDUFS2, Compound heterozygosity, Nuclear gene and Electron Transport Complex I are all subfields of Genetics. Lambert P. van den Heuvel has included themes like Human genetics and Mitochondrial disease in his Mitochondrion study.
In his work, Allele and Genotype is strongly intertwined with Exon, which is a subfield of Mutation. His research in Oxidative phosphorylation intersects with topics in Oxidoreductase, Biogenesis and Mitochondrial DNA. In his study, Heparan sulfate is strongly linked to Neurofibrillary tangle, which falls under the umbrella field of Cell biology.
The scientist’s investigation covers issues in Genetics, Gene, Biochemistry, Molecular biology and Mitochondrion. Lambert P. van den Heuvel frequently studies issues relating to Oxidative phosphorylation and Genetics. His Gene research incorporates themes from Endocrinology and Internal medicine.
His Biochemistry course of study focuses on Cell biology and Glomerular basement membrane. In Molecular biology, he works on issues like Protein subunit, which are connected to Cytochrome. His Mitochondrion research includes elements of Enzyme complex and Mitochondrial DNA.
Lambert P. van den Heuvel mainly focuses on Genetics, Gene, Internal medicine, Molecular biology and Mutation. His studies in Gene integrate themes in fields like Fibrinogen, Respiratory chain and Clinical significance. His research integrates issues of Endocrinology, Gastroenterology, Cystamine, Pharmacology and In vivo in his study of Internal medicine.
The study incorporates disciplines such as Cysteamine and Drug in addition to Endocrinology. As a member of one scientific family, Lambert P. van den Heuvel mostly works in the field of Molecular biology, focusing on Protein subunit and, on occasion, Cytochrome bc1, Cytochrome and Cytochrome b. Lambert P. van den Heuvel combines subjects such as Inborn error of metabolism, Mitochondrion, Bioinformatics and Candidate gene with his study of Mutation.
His primary scientific interests are in Mutation, Genetics, Mitochondrion, Molecular biology and Exome sequencing. His work on Genetics deals in particular with Human genetics, Membrane protein, Protein superfamily and Cytochrome c oxidase. His work carried out in the field of Molecular biology brings together such families of science as Hypertrophic cardiomyopathy, Protein subunit and Complex IV deficiency.
His Protein subunit research is multidisciplinary, incorporating elements of Missense mutation, Biogenesis, Cytochrome b, Cytochrome bc1 and Cytochrome. His Exome sequencing study improves the overall literature in Gene. His work on Disease gene identification, Compound heterozygosity, Pontocerebellar hypoplasia and Candidate gene as part of general Gene research is often related to DPAGT1, thus linking different fields of science.
This overview was generated by a machine learning system which analysed the scientist’s body of work. If you have any feedback, you can contact us here.
A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects?
Nathalie M.J. van der Put;Fons Gabreëls;Erik M.B. Stevens;Jan A.M. Smeitink.
American Journal of Human Genetics (1998)
The genetics and pathology of oxidative phosphorylation.
Jan Smeitink;Lambert van den Heuvel;Salvatore DiMauro.
Nature Reviews Genetics (2001)
Spectrophotometric Assay for Complex I of the Respiratory Chain in Tissue Samples and Cultured Fibroblasts
Antoon J.M. Janssen;Frans J.M. Trijbels;Rob C.A. Sengers;Jan A.M. Smeitink.
Clinical Chemistry (2007)
The First Nuclear-Encoded Complex I Mutation in a Patient with Leigh Syndrome
Jan Loeffen;Jan Smeitink;Ralf Triepels;Roel Smeets.
American Journal of Human Genetics (1998)
A monoclonal antibody against GBM heparan sulfate induces an acute selective proteinuria in rats
Jacob van den Born;Lambert P.W.J. van den Heuvel;Marinka A.H. Bakker;Jacques H. Veerkamp.
Kidney International (1992)
Mitochondrial complex I: structure, function and pathology.
Rolf J. R. J. Janssen;Leo G. Nijtmans;Lambert P. van den Heuvel;Jan A. M. Smeitink.
Journal of Inherited Metabolic Disease (2006)
Demonstration of a New Pathogenic Mutation in Human Complex I Deficiency: A 5-bp Duplication in the Nuclear Gene Encoding the 18-kD (AQDQ) Subunit
Lambert van den Heuvel;Wim Ruitenbeek;Roel Smeets;Zully Gelman-Kohan.
American Journal of Human Genetics (1998)
Heparan sulphate proteoglycans in Alzheimer's disease and amyloid-related disorders
Jack van Horssen;Pieter Wesseling;Lambert P W J van den Heuvel;Robert M W de Waal.
Lancet Neurology (2003)
Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency
Cristina Ugalde;Rolf J.R.J. Janssen;Lambert P. van den Heuvel;Jan A.M. Smeitink.
Human Molecular Genetics (2004)
Mitochondrial Translation and Beyond: Processes Implicated in Combined Oxidative Phosphorylation Deficiencies
Paulien Smits;Jan A.M. Smeitink;Lambert van den Heuvel.
BioMed Research International (2010)
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