Andre B P van Kuilenburg
Affiliation: Academic Medical Center
Country: The Netherlands
- van Kuilenburg A, Dobritzsch D, Meijer J, Krumpel M, Selim L, Rashed M, et al. ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients. Biochim Biophys Acta. 2012;1822:1096-108 pubmed publisher..Two mutations were identified in several unrelated ß-ureidopropionase patients, indicating that ß-ureidopropionase deficiency may be more common than anticipated. ..
- Van Kuilenburg A, Haasjes J, Richel D, Zoetekouw L, Van Lenthe H, de Abreu R, et al. Clinical implications of dihydropyrimidine dehydrogenase (DPD) deficiency in patients with severe 5-fluorouracil-associated toxicity: identification of new mutations in the DPD gene. Clin Cancer Res. 2000;6:4705-12 pubmed..Our results demonstrated that at least 57% (8 of 14) of the patients with a reduced DPD activity have a molecular basis for their deficient phenotype. ..
- Regenboog M, van Kuilenburg A, Verheij J, Swinkels D, Hollak C. Hyperferritinemia and iron metabolism in Gaucher disease: Potential pathophysiological implications. Blood Rev. 2016;30:431-437 pubmed publisher..We hypothesize that specifically this latter situation carries a risk for the occurrence of associated conditions such as the increased cancer risk, metabolic syndrome and neurodegeneration...
- van Kuilenburg A, Meijer J, Mul A, Hennekam R, Hoovers J, de Die Smulders C, et al. Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3). Hum Genet. 2009;125:581-90 pubmed publisher..Our study showed for the first time the presence of genomic deletions affecting DPYD in 7% (5/72) of all DPD deficient patients. Therefore, screening of DPD deficient patients for genomic deletions should be considered. ..
- van Kuilenburg A, Zoetekouw L. Determination of thymidine phosphorylase activity in human blood cells and fibroblasts by a nonradiochemical assay using reversed-phase high-performance liquid chromatography. Nucleosides Nucleotides Nucleic Acids. 2006;25:1261-4 pubmed..The activity of TP in leukocytes proved to be intermediate compared to the TP activity observed in PBM cells and granulocytes. The activity of TP also was readily detectable in human fibroblasts...
- van Kuilenburg A, Meinsma R, Assman B, Hoffman G, Voit T, Ribes A, et al. Genetic analysis of the first 4 patients with beta-ureidopropionase deficiency. Nucleosides Nucleotides Nucleic Acids. 2006;25:1093-8 pubmed..The alanine at position 85 was not conserved in other eukaryotic beta-ureidopropionase protein sequences. ..
- van Kuilenburg A, Meinsma R, Beke E, Assmann B, Ribes A, Lorente I, et al. beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities. Hum Mol Genet. 2004;13:2793-801 pubmed..Thus, a beta-ureidopropionase deficiency might not be as rare as is generally considered. ..
- Van Kuilenburg A, Meinsma R, Zoetekouw L, van Gennip A. High prevalence of the IVS14 + 1G>A mutation in the dihydropyrimidine dehydrogenase gene of patients with severe 5-fluorouracil-associated toxicity. Pharmacogenetics. 2002;12:555-8 pubmed..The apparently high prevalence of the IVS14 + 1G>A mutation warrants genetic screening for this mutation in cancer patients before the administration of 5FU. ..
- van Kuilenburg A, Meinsma R, Zoetekouw L, van Gennip A. Increased risk of grade IV neutropenia after administration of 5-fluorouracil due to a dihydropyrimidine dehydrogenase deficiency: high prevalence of the IVS14+1g>a mutation. Int J Cancer. 2002;101:253-8 pubmed....
- Van Kuilenburg A, Meinsma R, Vreken P, Waterham H, Van Gennip A. Identification of a cDNA encoding an isoform of human CTP synthetase. Biochim Biophys Acta. 2000;1492:548-52 pubmed..The gene encoding type II CTP synthetase has been localized on chromosome Xp22. ..
- van Kuilenburg A, Stroomer A, van Lenthe H, Abeling N, van Gennip A. New insights in dihydropyrimidine dehydrogenase deficiency: a pivotal role for beta-aminoisobutyric acid?. Biochem J. 2004;379:119-24 pubmed..Furthermore, the observation that the R-enantiomer of beta-AIB is abundantly present in the urine of DPD patients suggests that significant cross-over exists between the thymine and valine catabolic pathways...
- van Kuilenburg A, Meijer J, Dobritzsch D, Meinsma R, Duran M, Lohkamp B, et al. Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency. Mol Genet Metab. 2007;91:157-64 pubmed....
- van Kuilenburg A, Dobritzsch D, Meijer J, Meinsma R, Benoist J, Assmann B, et al. Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients. Biochim Biophys Acta. 2010;1802:639-48 pubmed publisher..S379R and p.L7V mutations were likely to cause structural destabilization and protein misfolding. Four mutations were identified in multiple unrelated DHP patients, indicating that DHP deficiency may be more common than anticipated. ..
- van Kuilenburg A, Meijer J, Mul A, Meinsma R, Schmid V, Dobritzsch D, et al. Intragenic deletions and a deep intronic mutation affecting pre-mRNA splicing in the dihydropyrimidine dehydrogenase gene as novel mechanisms causing 5-fluorouracil toxicity. Hum Genet. 2010;128:529-38 pubmed publisher..We conclude that screening for DPD deficiency should include a search for genomic rearrangements and aberrant splicing. ..
- van Kuilenburg A, Dobritzsch D, Meinsma R, Haasjes J, Waterham H, Nowaczyk M, et al. Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure. Biochem J. 2002;364:157-63 pubmed..Our data demonstrate for the first time the possible consequences of missense mutations in the DPD gene on the function and stability of the DPD enzyme. ..
- Nakajima Y, Meijer J, Zhang C, Wang X, Kondo T, Ito T, et al. Altered Pre-mRNA Splicing Caused by a Novel Intronic Mutation c.1443+5G>A in the Dihydropyrimidinase (DPYS) Gene. Int J Mol Sci. 2016;17: pubmed publisher..Thus, the analysis suggests that the c.1443+5G>A mutation results in aberrant splicing of the pre-mRNA encoding DHP, underlying the DHP deficiency in two unrelated Chinese patients. ..
- Bertholee D, Maring J, van Kuilenburg A. Genotypes Affecting the Pharmacokinetics of Anticancer Drugs. Clin Pharmacokinet. 2017;56:317-337 pubmed publisher....