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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 …
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.
The human UDP-N-acetylglucosamine: alpha-6-D-mannoside-beta-1,2- N-acetylglucosaminyltransferase II gene (MGAT2). Cloning of genomic DNA, localization to chromosome 14q21, expression in insect cells and purification of the recombinant protein.
Tan J, D'Agostaro AF, Bendiak B, Reck F, Sarkar M, Squire JA, Leong P, Schachter H. Tan J, et al. Among authors: schachter h. Eur J Biochem. 1995 Jul 15;231(2):317-28. doi: 10.1111/j.1432-1033.1995.tb20703.x. Eur J Biochem. 1995. PMID: 7635144 Free article.
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.
226 results