Abnormal synthesis of mannose 1-phosphate derived carbohydrates in carbohydrate-deficient glycoprotein syndrome type I fibroblasts with phosphomannomutase deficiency

Glycobiology

Volumn 8, Issue 2, 1998, Pages 165-171

  Körner, Christian ^a   Lehle, Ludwig ^b   Von Figura, Kurt ^a  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

^b UNIVERSITY OF REGENSBURG   (Germany)

Author keywords

CDGS type I; Mannose metabolites; Phosphomannomutase deficiency

Indexed keywords

MANNOSE PHOSPHATE; MUTASE; OLIGOSACCHARIDE; PHOSPHOMANNOMUTASE; UNCLASSIFIED DRUG;

ARTICLE; CARBOHYDRATE ANALYSIS; CARBOHYDRATE SYNTHESIS; CONGENITAL DISORDER OF GLYCOSYLATION; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; FIBROBLAST; HUMAN; HUMAN CELL; PRIORITY JOURNAL;

CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME; CARBOHYDRATES; CELLS, CULTURED; DOLICHOL MONOPHOSPHATE MANNOSE; FIBROBLASTS; GUANOSINE DIPHOSPHATE FUCOSE; GUANOSINE DIPHOSPHATE MANNOSE; HUMANS; LIPOPOLYSACCHARIDES; MANNOSEPHOSPHATES; PHOSPHOTRANSFERASES (PHOSPHOMUTASES);

EID: 0038599459     PISSN: 09596658     EISSN: None     Source Type: Journal    
DOI: 10.1093/glycob/8.2.165     Document Type: Article

References (28)

1. Ahuja, K.K. (1982) Fertilization studies in the hamster. The role of cell surface carbohydrates. Exp. Cell Res., 140, 353-362.
2. Bird, J.M. and Kimben, S.J. (1984) Oligosaccharides containing fucose linked α(1-3) and α(1-4) to N-acetylglucosamine cause decompactation of mouse morulae. Dev. Biol., 104, 449-460.
3. Jaeken, J. and Carchon, H. (1993) The carbohydrate-deficient glycoprotein syndromes: an overview. J. Inher. Metab. Dis., 16, 813-820.
4. Jaeken, J., Carchon, H. and Stibler, H (1993) The carbohydrate-deficient glycoprotein syndromes: pre-Golgi and Golgi disorders? Glycobiology, 3, 423-428.
5. Jaeken, J., Schachter, H., Carchon, H., De Lock, P., Coddeville, B. and Spik, G. (1994) Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localized N-acetylglucosaminyltransferase II. Arch. Dis. Child., 71, 123-127.
6. Knauer, R., Lehle, L., Hanefeld, F. and von Figura, K. (1994) Normal N-oligosaccharyltransferase activity in fibroblasts from patients with carbohydrate deficient glycoprotein syndrome. J. Inher. Metab. Dis., 17, 541-544.
7. Kobata, A. (1979) Use of endo-and exoglycosidases for structural studies of glycoconjugates. Anal. Biochem., 100, 1-14.
8. Körner, C., Lehle, L. and von Figura, K. (1995) Defective synthesis of lipid linked oligosaccharides in carbohydrate deficient glycoproteins syndrome (CDGS) type 1. Biol. Chem. Hoppe Seyler, 376, 117.
9. Krasnewich, D.M. Holt, G.D., Brantly, M., Skovby, F., Redwine, J. and Gahl, W.A. (1995) Abnormal synthesis of dolichol-linked oligosaccharides in carbohydrate-deficient glycoprotein syndrome. Glycobiology, 5, 503-510.
10. Lehle, L. (1980) Biosynthesis of the core region of yeast mannoproteins. Formation of a glycosylated dolichol-bound oligosaccharide precursor, its transfer to protein and subsequent modification. Eur. J. Biochem., 109, 589-601.
11. Lowe, J.B., Stoolmann, L.M., Nain, R.P., Larsen, R.D., Berhend, T.L. and Marks, R.M. (1990) ELAM-1-dependent cell adhesion to vasuclar endothelium determined by a transfected human fucosyltransferase cDNA. Cell, 63, 475-484.
12. Lowry, O., Rosebrough, N., Farr, A. and Randall, R. (1951) Protein determination by a modified Folin phenol method. J. Biol. Chem., 193, 265-275.
13. Matthijs, G., Schollen, E., Pardon, E., Veiga-Da-Cunha, M. Jaeken, J., Cassiman, J.-J. and Van Schaftingen, E. (1997) Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome). Nature Genet., 16, 88-92.
14. Ohkura, T., Fukushima, K., Kurisaki, A, Sagami, H., Ogura, K., Ohno, K., Hara-Kuge, S. and Yamashita, K. (1997) A partial deficiency of dehydrodolichol reduction is a cause of carbohydrate-deficient glycoprotein syndrome type 1. J. Biol. Chem., 272, 6868-6875.
15. Panneerselvam, K. and Freeze, H.H. (1996) Mannose corrects altered N-glycosylation in carbohydrate-deficient glycoprotein syndrome fibroblasts. J. Clin. Invest., 97, 1478-1487.
16. Powell, L.D, Paneerselvam, K., Vij, R., Diaz, S., Mauzi, A., Buist, N., Freeze, H. and Varki, A. (1994) Carbohydrate-deficient glycoprotein syndrome: not a N-linked oligosaccharide processing defect, but an abnormality in lipid-linked oligosaccharide biosynthesis? J. Clin. Invest., 94, 1901-1909.
17. Ramphal, J.Y., Zheng, Z.L., Perez, C., Walter, L.E., De Frees, S.A. and Gaeta, F.C. (1994) Strucuture-activity relationships of sialyl Lewis X-containing oligosaccharides. 1. Effects of modifications of the fucose moiety. J. Med. Chem., 37, 3459-3463.
18. Rice, G.E. and Bevilacqua, M.R. (1989) An inducible endothelial cell surface glycoprotein mediates melanoma adhesion. Science, 246, 1303-1306.
19. Rosati, R. and De Santis, R. (1980) Role of the surface carbohydrates in sper-egg interaction in Liona intestinales. Nature, 283, 762-764.
20. Sawada, R., Tsuboi, S. and Fukuda, M. (1993) Differential E-selectin dependent adhesion efficiency in sublines of a human colon cancer exhibiting distinct metastatic potentials. J. Biol. Chem., 269, 1425-1431.
21. Stibler, H., Westerber, B., Hanefeld, F. and Hagberg, B (1993) Carbohydrate deficient glycoprotein (CDG) syndrome: a new variant, type III. Neuropediatrics, 24, 51-52.
22. Stibler, H., Stephani, U. and Kutsch, U. (1995) Carbohydrate-deficient glycoprotein syndrome - a fourth subtype. Neuropediatrics, 26, 235-237.
23. Tan, J., Dunn, J., Jaeken, J. and Schachter, H. (1996) Mutations in the MGAT 2 gene controlling complex N-glydan synthesis cause carbohydrate deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development. Am. J. Hum. Genet., 59, 810-817.
24. van Schaftingen, E. and Jaeken, J. (1995) Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type 1. FEBS Lett., 377, 318-329.
25. Wada, Y., Nishikawa, A., Okamoto, N., Inui, K., Tsukamoto, H., Okada, S. and Taniguchi, N. (1992) Structure of serum transferrin in carbohydrate-deficient glycoprotein syndrome. Biophys. Biochem. Res. Commun., 189, 832-836.
26. Watkins, W.M. (1980) Biochemistry and genetics of the ABO, Lewis and P blood group system. Adv. Hum. Genet., 10, 1-116.
27. Yamashita, K., Ideo, H., Ohkura, T., Fukushima, K., Yuasa, I., Ohno, K. and Takeshita, K. (1993) Sugar chains of serum transferrin from patients with carbohydrate deficient glycoprotein syndrome. Evidence of asparagine N-linked oligosaccharide transfer deficiency. J. Biol. Chem., 268, 5783-5789.
28. Yasugi, E., Nakasuji, M., Dohi, T. and Oshima, M. (1994) Major defect of carbohydrate-deficient glycoprotein syndrome is not found in the synthesis of dolichyl phosphate or N-acetylglucosaminyl-pyrophosphoryl-dolichol. Biochem. Biophys. Res. Commun., 200, 816-820.