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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: lefeber dj. 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.
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: lefeber dj. 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. Among authors: lefeber dj. Brain. 2014 Apr;137(Pt 4):1030-8. doi: 10.1093/brain/awu019. Epub 2014 Feb 24. Brain. 2014. PMID: 24566669
Sialic Acid Glycoengineering Using an Unnatural Sialic Acid for the Detection of Sialoglycan Biosynthesis Defects and On-Cell Synthesis of Siglec Ligands.
Büll C, Heise T, Beurskens DM, Riemersma M, Ashikov A, Rutjes FP, van Kuppevelt TH, Lefeber DJ, den Brok MH, Adema GJ, Boltje TJ. Büll C, et al. Among authors: lefeber dj. ACS Chem Biol. 2015 Oct 16;10(10):2353-63. doi: 10.1021/acschembio.5b00501. Epub 2015 Aug 10. ACS Chem Biol. 2015. PMID: 26258433
271 results