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Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failure.
Pérez-Torras S, Mata-Ventosa A, Drögemöller B, Tarailo-Graovac M, Meijer J, Meinsma R, van Cruchten AG, Kulik W, Viel-Oliva A, Bidon-Chanal A, Ross CJ, Wassermann WW, van Karnebeek CDM, Pastor-Anglada M, van Kuilenburg ABP. Pérez-Torras S, et al. Among authors: kulik w. Biochim Biophys Acta Mol Basis Dis. 2019 Jun 1;1865(6):1182-1191. doi: 10.1016/j.bbadis.2019.01.013. Epub 2019 Jan 15. Biochim Biophys Acta Mol Basis Dis. 2019. PMID: 30658162 Free article.
Phenotypic and clinical implications of variants in the dihydropyrimidine dehydrogenase gene.
Kuilenburg ABPV, Meijer J, Tanck MWT, Dobritzsch D, Zoetekouw L, Dekkers LL, Roelofsen J, Meinsma R, Wymenga M, Kulik W, Büchel B, Hennekam RCM, Largiadèr CR. Kuilenburg ABPV, et al. Among authors: kulik w. Biochim Biophys Acta. 2016 Apr;1862(4):754-762. doi: 10.1016/j.bbadis.2016.01.009. Epub 2016 Jan 12. Biochim Biophys Acta. 2016. PMID: 26804652 Free article.
Hydrogen sulfide donor NaHS reduces organ injury in a rat model of pneumococcal pneumosepsis, associated with improved bio-energetic status.
Aslami H, Pulskens WP, Kuipers MT, Bos AP, van Kuilenburg AB, Wanders RJ, Roelofsen J, Roelofs JJ, Kerindongo RP, Beurskens CJ, Schultz MJ, Kulik W, Weber NC, Juffermans NP. Aslami H, et al. Among authors: kulik w. PLoS One. 2013 May 23;8(5):e63497. doi: 10.1371/journal.pone.0063497. Print 2013. PLoS One. 2013. PMID: 23717435 Free PMC article.
Introduction of a fluorine atom at C3 of 3-deazauridine shifts its antimetabolic activity from inhibition of CTP synthetase to inhibition of orotidylate decarboxylase, an early event in the de novo pyrimidine nucleotide biosynthesis pathway.
Balzarini J, Gago F, Kulik W, van Kuilenburg AB, Karlsson A, Peterson MA, Robins MJ. Balzarini J, et al. Among authors: kulik w. J Biol Chem. 2012 Aug 31;287(36):30444-54. doi: 10.1074/jbc.M112.378091. Epub 2012 Jun 24. J Biol Chem. 2012. PMID: 22730407 Free PMC article.
118 results