Chapter 16b Carbohydrate-deficient glycoprotein syndrome. Type II: an autosomal recessive disease due to mutations in the N-acetylglucosaminyltransferase II gene

New Comprehensive Biochemistry

Volumn 30, Issue C, 1996, Pages 457-467

  Jaeken, Jaak ^a   Spik, Genevieve ^b   Schachter, Harry ^c  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^b UNIV LILLE   (France)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

carbohydrate deficient glycoprotein; CDG; GnT II; GnT Ix; HEMPAS; hereditary erythroblastic multi nuclearity with a positive acidified serum lysis test (congenital dyserythropoietic anemia type II); RE; restriction endonuclease; UDP GlcNAc: 3 D mannoside 1,2 N acetylglucosaminyl transferase I; UDP GlcNAc: 6 D mannoside 1,2 N acetylglucosaminyl transferase II

Indexed keywords

EID: 77956655375     PISSN: 01677306     EISSN: None     Source Type: Book Series    
DOI: 10.1016/S0167-7306(08)60303-8     Document Type: Article

References (32)

1. Jaeken J., Vanderschueren-Lodeweyckx M., Casaer P., Snoeck L., Corbeel L., Eggermont E., and Eeckels R. Pediatr. Res. 14 (1980) 179
2. Jaeken J., Stibler H., and Hagberg B. Acta Paediatr. Scand. (1991) Suppl. 375 Monograph
3. Jaeken J., and Carchon H. J. Inherited Metab. Dis. 16 (1993) 813-820
4. Jaeken J., Carchon H., and Stibler H. Glycobiology 3 (1993) 423-428
5. Stibler H., Blennow G., Kristiansson B., Lindehammer H., and Hagberg B. J. Neurol. Neurosurg. Psychiatry 57 (1994) 552-556
6. Ramaekers V.T., Stibler H., Kint J., and Jaeken J. J. Inherited Metab. Dis. 14 (1991) 385-388
7. Jaeken J., De Cock P., Stibler H., Van Geet C., Kim J., Ramaekers V., and Carchon H. J. Inherited Metab. Dis. 16 (1993) 1041
8. Jaeken J., Schachter H., Carchon H., De Cock P., Coddeville B., and Spik G. Arch. Dis. Child. 71 (1994) 123-127
9. Charuk J.H.M., Tan J., Bernardini M., Haddad S., Reithmeier R.A.F., Jaeken J., and Schachter H. Eur. J. Biochem. 230 (1995) 797-805
10. Stibler H., Westerberg B., Hanefeld F., and Hagberg B. Neuropediatrics 24 (1993) 51-52
11. Wada Y., Nishikawa A., Okamoto N., Inui K., Tsukamoto H., Okada S., and Taniguchi N. Biochem. Biophys. Res. Commun. 189 (1992) 832-836
12. Yamashita K., Ideo H., Ohkura T., Fukushima K., Yuasa I., Ohno K., and Takeshita K. J. Biol. Chem. 268 (1993) 5783-5789
13. Yasugi E., Nakasuji M., Dohi T., and Oshima M. Biochem. Biophys. Res. Commun. 200 (1994) 816-820
14. Knauer R., Lehle L., Hanefeld F., and von Figura K. J. Inherited Metab. Dis. 17 (1994) 541-544
15. Powell L.D., Paneerselvam K., Vij R., Diaz S., Manzi A., Buist N., Freeze H., and Varki A. J. Clin. Invest. 94 (1994) 1901-1909
16. Paneerselvam K., and Freeze H.H. Biochem. Biophys. Res. Commun. 208 (1995) 517-522
17. Jacquinot P.M., Léger D., Wieruszeski J.M., Coddeville B., Montreuil J., and Spik J. Glycobiology 4 (1994) 617-624
18. Yang F., Lum J.B., McGill J.R., Moore C.M., Naylor S.L., van Bragt P.H., Baldwin W.D., and Bowman B.H. Proc. Natl. Acad. Sci. USA 81 (1984) 2752-2756
19. Spik G., Bayard B., Fournet B., Strecker G., Bouquelet S., and Montreuil J. FEBS Lett. 50 (1975) 296-299
20. Mason A.B., Miller M.K., Funk W.D., Banfield D.K., Savage K.J., Oliver R.W.A., Green B.N., MacGillivray R.T.A., and Woodworth R.C. Biochemistry 32 (1993) 5472-5479
21. Coddeville B., Carchon H., Jaeken J., Briand G., and Spik G. Glycobiology (1996) Submitted
22. Léger D., Campion B., Decottignies J.P., Montreuil J., and Spik G. Biochem. J. 257 (1989) 231-238
23. Spik G., Debruyne V., Montreuil J., van Halbeek H., and Vliegenthart J.F.G. FEBS Lett. 183 (1985) 65-69
24. Schachter H. In: Montreuil J., Vliegenthart J.F.G., and Schachter H. (Eds). Glycoproteins, New Comprehensive Biochemistry Series 29A (1995), Elsevier, Amsterdam 153-199
25. Schachter H. In: Montreuil J., Vliegenthart J.F.G., and Schachter H. (Eds). Glycoproteins, New Comprehensive Biochemistry Series 29A (1995), Elsevier, Amsterdam 281-286
26. D'Agostaro G.A.F., Zingoni A., Moritz R.L., Simpson R.J., Schachter H., and Bendiak B. J. Biol. Chem. 270 (1995) 15211-15221
27. Tan J., D'Agostaro G.A.F., Bendiak B., Reck F., Sarkar M., Squire J.A., Leong P., and Schachter H. Eur. J. Biochem. 231 (1995) 317-328
28. J. Tan J. Jaeken J. Dunn H. Schachter Submitted
29. Metzler M., Gertz A., Sarkar M., Schachter H., Schrader J.W., and Marth J.D. EMBO J. 13 (1994) 2056-2065
30. Fukuda M.N., Dell A., and Scartezzini P. J. Biol. Chem. 262 (1987) 7195-7206
31. M.N. Fukuda (1996) this volume, ch. 7
32. Fukuda M.N., Gaetani G.F., Izzo P., Scartezzini P., and Dell A. Br. J. Haematol. 82 (1992) 745-752