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Carbohydrate-deficient glycoprotein syndrome type II.
Schachter H, Jaeken J. Schachter H, et al. Biochim Biophys Acta. 1999 Oct 8;1455(2-3):179-92. doi: 10.1016/s0925-4439(99)00054-x. Biochim Biophys Acta. 1999. PMID: 10571011 Free article. Review.
Carbohydrate-deficient glycoprotein syndrome type II. An autosomal recessive N-acetylglucosaminyltransferase II deficiency different from typical hereditary erythroblastic multinuclearity, with a positive acidified-serum lysis test (HEMPAS).
Charuk JH, Tan J, Bernardini M, Haddad S, Reithmeier RA, Jaeken J, Schachter H. Charuk JH, et al. Among authors: schachter h. Eur J Biochem. 1995 Jun 1;230(2):797-805. doi: 10.1111/j.1432-1033.1995.0797h.x. Eur J Biochem. 1995. PMID: 7607254 Free article.
Fibroblast extracts from two patients with a recently described variant of this disease (CDGS type II) have previously been shown to have over 98% reduced activity of UDP-GlcNAc:alpha-6-D-mannoside beta-1,2-N-acetylglucosaminyltransferase II [GlcNAc-TII; Jaeken, J., Schachter …
Fibroblast extracts from two patients with a recently described variant of this disease (CDGS type II) have previously been shown to have ov …
Defective glycosyltransferases are not good for your health.
Schachter H, Tan J, Sarkar M, Yip B, Chen S, Dunn J, Jaeken J. Schachter H, et al. Adv Exp Med Biol. 1998;435:9-27. doi: 10.1007/978-1-4615-5383-0_2. Adv Exp Med Biol. 1998. PMID: 9498061 Review. No abstract available.
Modeling human congenital disorder of glycosylation type IIa in the mouse: conservation of asparagine-linked glycan-dependent functions in mammalian physiology and insights into disease pathogenesis.
Wang Y, Tan J, Sutton-Smith M, Ditto D, Panico M, Campbell RM, Varki NM, Long JM, Jaeken J, Levinson SR, Wynshaw-Boris A, Morris HR, Le D, Dell A, Schachter H, Marth JD. Wang Y, et al. Among authors: schachter h. Glycobiology. 2001 Dec;11(12):1051-70. doi: 10.1093/glycob/11.12.1051. Glycobiology. 2001. PMID: 11805078
The role of the GlcNAc(beta)1,2Man(alpha)- moiety in mammalian development. Null mutations of the genes encoding UDP-N-acetylglucosamine:alpha-3-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I and UDP-N-acetylglucosamine:alpha-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I.2 cause embryonic lethality and congenital muscular dystrophy in mice and men, respectively.
Schachter H. Schachter H. Biochim Biophys Acta. 2002 Dec 19;1573(3):292-300. doi: 10.1016/s0304-4165(02)00396-3. Biochim Biophys Acta. 2002. PMID: 12417411 Review.
Glycosylation diseases: quo vadis?
Schachter H, Freeze HH. Schachter H, et al. Biochim Biophys Acta. 2009 Sep;1792(9):925-30. doi: 10.1016/j.bbadis.2008.11.002. Epub 2008 Nov 13. Biochim Biophys Acta. 2009. PMID: 19061954 Free PMC article. Review.
226 results