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Combined sialic acid and histone deacetylase (HDAC) inhibitor treatment up-regulates the neuroblastoma antigen GD2.
van den Bijgaart RJE, Kroesen M, Wassink M, Brok IC, Kers-Rebel ED, Boon L, Heise T, van Scherpenzeel M, Lefeber DJ, Boltje TJ, den Brok MH, Hoogerbrugge PM, Büll C, Adema GJ. van den Bijgaart RJE, et al. Among authors: van scherpenzeel m. J Biol Chem. 2019 Mar 22;294(12):4437-4449. doi: 10.1074/jbc.RA118.002763. Epub 2019 Jan 22. J Biol Chem. 2019. PMID: 30670592 Free PMC article.
A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype.
Iqbal Z, Shahzad M, Vissers LE, van Scherpenzeel M, Gilissen C, Razzaq A, Zahoor MY, Khan SN, Kleefstra T, Veltman JA, de Brouwer AP, Lefeber DJ, van Bokhoven H, Riazuddin S. Iqbal Z, et al. Among authors: van bokhoven h, van scherpenzeel m. Eur J Hum Genet. 2013 Aug;21(8):844-9. doi: 10.1038/ejhg.2012.257. Epub 2012 Dec 19. Eur J Hum Genet. 2013. PMID: 23249953 Free PMC article.
Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.
Van Scherpenzeel M, Timal S, Rymen D, Hoischen A, Wuhrer M, Hipgrave-Ederveen A, Grunewald S, Peanne R, Saada A, Edvardson S, Grønborg S, Ruijter G, Kattentidt-Mouravieva A, Brum JM, Freckmann ML, Tomkins S, Jalan A, Prochazkova D, Ondruskova N, Hansikova H, Willemsen MA, Hensbergen PJ, Matthijs G, Wevers RA, Veltman JA, Morava E, Lefeber DJ. Van Scherpenzeel M, et al. Brain. 2014 Apr;137(Pt 4):1030-8. doi: 10.1093/brain/awu019. Epub 2014 Feb 24. Brain. 2014. PMID: 24566669
A common sugar-nucleotide-mediated mechanism of inhibition of (glycosamino)glycan biosynthesis, as evidenced by 6F-GalNAc (Ac3).
van Wijk XM, Lawrence R, Thijssen VL, van den Broek SA, Troost R, van Scherpenzeel M, Naidu N, Oosterhof A, Griffioen AW, Lefeber DJ, van Delft FL, van Kuppevelt TH. van Wijk XM, et al. Among authors: van kuppevelt th, van den broek sa, van delft fl, van scherpenzeel m. FASEB J. 2015 Jul;29(7):2993-3002. doi: 10.1096/fj.14-264226. Epub 2015 Apr 13. FASEB J. 2015. PMID: 25868729 Free PMC article.
Human ISPD Is a Cytidyltransferase Required for Dystroglycan O-Mannosylation.
Riemersma M, Froese DS, van Tol W, Engelke UF, Kopec J, van Scherpenzeel M, Ashikov A, Krojer T, von Delft F, Tessari M, Buczkowska A, Swiezewska E, Jae LT, Brummelkamp TR, Manya H, Endo T, van Bokhoven H, Yue WW, Lefeber DJ. Riemersma M, et al. Among authors: van tol w, van bokhoven h, van scherpenzeel m. Chem Biol. 2015 Dec 17;22(12):1643-52. doi: 10.1016/j.chembiol.2015.10.014. Epub 2015 Dec 10. Chem Biol. 2015. PMID: 26687144
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