Defective glycosyltransferases are not good for your health

Advances in Experimental Medicine and Biology

Volumn 435, Issue , 1998, Pages 9-27

  Schachter, Harry ^a,b   Tan, Jenny ^a,b   Sarkar, Mohan ^a,b   Yip, Betty ^a,b   Chen, Shihao ^a,b   Dunn, James ^c   Jaeken, Jaak ^d  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c Visible Genetics Inc   (Canada)

^d UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOSYLTRANSFERASE; POLYSACCHARIDE;

ANIMAL; BIOSYNTHESIS; CONGENITAL DISORDER OF GLYCOSYLATION; CONGENITAL DYSERYTHROPOIETIC ANEMIA; HUMAN; METABOLISM; PATHOPHYSIOLOGY; PHYSIOLOGY; REVIEW;

ANEMIA, DYSERYTHROPOIETIC, CONGENITAL; ANIMALS; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME; GLYCOSYLTRANSFERASES; HUMANS; POLYSACCHARIDES;

EID: 0031602736     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-4615-5383-0_2     Document Type: Article

References (108)

1. Anselstetter, V., Horstmann, H.-J. and Heimpel, H., 1977, Congenital dyserythropoietic anaemia, types I and II; aberrant pattern of erythrocyte membrane proteins in CDAII, as revealed by two-dimensional polyacrylamide gel electrophoresis, British Journal of Haematology. 35: 209.
2. Baines, A.J., Banga, J.P.S., Gratzer, W.B., Linch, D.C. and Huehns, E.R., 1982, Red cell membrane anomalies in congenital dyserythropoietic anaemia, type II (HEMPAS), British Journal of Haematology. 50: 563.
3. Blennow, G., Jaeken, J. and Wiklund, L.M., 1991, Neurological findings in the carbohydrate-deficient glycoprotein syndrome, Acta Paediatr Scand. 80: 14.
4. Bonay, P. and Hughes, R.C., 1991, Purification and characterization of a novel broad-specificity (alpna1->2, alpha1->3 and alpha1->6) mannosidase from rat liver, Eur J Biochem. 197: 229.
5. Bonay, P., Roth, J. and Hughes, R.C., 1992, Subcellular distribution in rat liver of a novel broad-specificity (alpha1->2, alpha1->3 and alpha1->6) mannosidase active on oligomannose glycans, Eur J Biochem. 205: 399.
6. Charuk, J.H.M., Tan, J., Bernardini, M., Haddad, S., Reithmeier, R.A.F., Jaeken, J. and Schachter, H., 1995, 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), Eur J Biochem. 230: 797.
7. Chen, S., Tan, J. and Schachter, H., 1996, Transcriptional regulation of the human UDP-GlcNAc:α-6-D-mannoside β1-2-N-acetylglucosaminyltransferase II gene (MGAT2) which controls complex N-glycan synthesis, Glycoconjugate J. Submitted.:
8. Crookston, J.H., Crookston, M.C., Burnie, K.L., Francombe, W.H., Dacie, J. V., Davis, J.A. and Lewis, S.J., 1969, Hereditary erythroblastic multinuclearity associated with a positive acidified-serum test; a typical congenital dyserythropoietic anaemia, Brit.J.Haematol. 17: 11.
9. Crookston, J.H., Crookston, M.C. and Rosse, W.F., 1972, Red-Cell Abnormalities in HEMPAS (Hereditary Erythroblastic Multinuclearity with a Positive Acidified-Serum Test), Brit.J.Haematol. 23 (supplement): 83.
10. Crookston, J.H., Godwin, T.F., Wightman, K.J.R., Dacie, J.V., Davis, J.A., Lewis, S.M. and Patterson, M.J.L. (1966). Congenital Dyserythropoietic Anaemia. International Society of Haematology, XIth Congress, Sydney, Australia,
11. D'Agostaro, G.A.F., Zingoni, A., Moritz, R.L., Simpson, R.J., Schachter, H. and Bendiak, B., 1995, Molecular cloning and expression of cDNA encoding the rat UDP-N-acetylglucosamine:alpha-6-D-mannoside beta-1,2-N-acetylglucosaminyltransferase II, J Biol Chem. 270: 15211.
12. Daniel, P.F., Winchester, B. and Warren, C.D., 1994, Mammalian alpha-mannosidases-multiple forms but a common purpose?, Glycobiology. 4: 551.
13. De Santis, R., Santer, U.V. and Glick, M.C., 1987, NIH 3T3 cells transfected with human tumor DNA lose the transformed phenotype when treated with swainsonine, Biochem. Biophys. Res. Communs. 142: 348.
14. De Zegher, F. and Jaeken, J., 1995, Endocrinology of the carbohydrate-deficient glycoprotein syndrome type 1 from birth through adolescence, Pediatr Res. 37: 395.
15. Dennis, J.W., 1986, Effects of swainsonine and polyinosinic:polycytidylic acid on murine tumor cell growth and metastasis, Cancer Res. 46: 5131.
16. Elbein, A.D., 1987, Inhibitors of the biosynthesis and processing of N-linked oligosaccharide chains, Ann. Rev. Biochem. 56: 497.
17. Etzioni, A., Frydman, M., Pollack, S., Avidor, I., Phillips, M.L., Paulson, J.C. and Gershoni-Baruch, R., 1992, Brief report: Recurrent severe infections caused by a novel leukocyte adhesion deficiency, N Engl J Med. 327: 1789.
18. Etzioni, A., Phillips, L.M., Paulson, J.C. and Harlan, J.M., 1995, Leukocyte adhesion deficiency (LAD) II, in: "Cell Adhesion and Human Disease", J. Marsh and J.A. Goode, ed., John Wiley & Sons Ltd, Baffins Lane, Chichester, England PO19 7UD, 51.
19. Fukada, T., Iida, K., Kioka, N., Sakai, H. and Komano, T., 1994, Cloning of a cDNA Encoding N-Acetylglucosaminyltransferase I from Rat Liver and Analysis of Its Expression in Rat Tissues, Biosci Biotechnol Biochem. 58: 200.
20. Fukuda, M., Dell, A., Oates, J.E. and Fukuda, M.N., 1984a, Structure of branched glycosaminoglycan, the carbohydrate moiety of band 3 isolated from adult human erythrocytes, J.Mol.Chem. 259: 8260.
21. Fukuda, M.N., 1990, HEMPAS disease: genetic defect of glycosylation, Glycobiology. 1: 9.
22. Fukuda, M.N., 1993, Congenital dyserythropoietic anaemia type II (HEMPAS) and its molecular basis, Bailliere's Clinical Haematology. 6: 493.
23. Fukuda, M.N., Bothner, B., Scartezzini, P. and Dell, A., 1986a, Isolation and characterization of poly-N-acetyllactosaminylceramides accumulated in the erythrocytes of congenital dyserythropoietic anemia type II patients, Chem.Physics Lipids. 42: 185.
24. Fukuda, M.N., Dell, A. and Scartezzini, P., 1987, Primary defect of congenital dyserythropoietic anemia type II. Failure in glycosylation of erythrocyte lactosaminoglycan-proteins caused by lowered N-acetylglucosaminyltransferase II, J. Biol. Chem. 262: 7195.
25. Fukuda, M.N., Gaetani, G.F., Izzo, P., Scartezzini, P. and Dell, A., 1992, Incompletely processed N-glycans of serum glycoproteins in congenital dyserythropoietic anaemia type II (HEMPAS), Br J Haematol. 82: 745.
26. Fukuda, M.N., Klier, G., Yu, J. and Scartezzini, P., 1986b, Anomalous clustering of underglycosylated band 3 in erythrocytes and their precursor cells in congenital dyserythropoietic anemia type II, Blood. 68: 521.
27. Fukuda, M.N., Masri, K.A., Dell, A., Luzzatto, L. and Moremen, K.W., 1990, Incomplete synthesis of N-glycans in congenital dyserythropoietic anemia type II caused by a defect in the gene encoding alpha-mannosidase II, Proc Natl Acad Sci Usa. 87: 7443.
28. Fukuda, M.N., Papayannopoulou, T., Gordon-Smith, E.C., Rochant, H. and Testa, U., 1984b, Defect in glycosylation of erythrocyte membrane proteins in congenital dyserythropoietic anaemia type II (HEMPAS), British J. Haematology. 56: 55.
29. Hagberg, B.A., Blennow, G., Kristiansson, B. and Stibler, H., 1993, Carbohydrate-Deficient Glycoprotein Syndromes - Peculiar Group of New Disorders, Pediat Neurol. 9: 255.
30. Harlow, R.W.H. and Lowenthal, R.M., 1982, Erythrocyte membrane proteins in an unusual case of congenital dyserythropoietic anaemia, type II (CDA II), British Journal of Haematology. 50: 35.
31. Harpaz, N. and Schachter, H., 1980, Control of glycoprotein synthesis. V. Processing of asparagine-linked oligosaccharides by one or more rat liver Golgi α-D-mannosidases dependent on the prior action of UDP-N-acetylglucosamine:α-D-mannoside β-2-N-acetylglucosaminyltransferase I, J Biol Chem. 255: 4894.
32. Heimpel, H. and Wendt, F., 1968, Congenital dyserythropoietic anemia with karyorrhexis and multinuclearity of erythroblasts, Helvetica Medica Acta. 34: 103.
33. Hull, E., Sarkar, M., Spruijt, M.P.N., Höppener, J.W.M., Dunn, R. and Schachter, H., 1991, Organization and localization to chromosome 5 of the human UDP-N-acetylglucosamine:alpha-3-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I gene, Biochem Biophys Res Commun. 176: 608.
34. Humphries, M.J. and Olden, K., 1989, Asparagine-linked oligosaccharides and tumor metastasis, Pharmacol Ther. 44: 85.
35. Ioffe, E. and Stanley, P., 1994, Mice Lacking N-Acetylglucosaminyltransferase I Activity Die at Mid-Gestation, Revealing an Essential Role for Complex or Hybrid N-Linked Carbohydrates, Proc Natl Acad Sci USA. 91: 728.
36. Jaeken, J. and Carchon, H., 1993, The Carbohydrate-Deficient Glycoprotein Syndromes - An Overview, J Inherited Metab Dis. 16: 813.
37. Jacken, J., Carchon, H. and Stibler, H., 1993a, The Carbohydrate-Deficient Glycoprotein Syndromes - Pre-Golgi and Golgi Disorders?, Glycobiology. 3: 423.
38. Jacken, J., Decock, P., Stibler, H., Vangeet, C., Kint, J., Ramaekers, V. and Carchon, H., 1993b, Carbohydrate-Deficient Glycoprotein Syndrome Type II, J Inherited Metab Dis. 16: 1041.
39. Jacken, J., Hagberg, B. and Stromme, P., 1991, Clinical presentation and natural course of the carbohydrate-deficient glycoprotein syndrome, Acta Paediatr Scand. 80: 6.
40. Jaeken, J., Schachter, H., Carchon, H., Decock, P., Coddeville, B. and Spik, G., 1994, Carbohydrate deficient: Glycoprotein syndrome type II: A deficiency in Golgi localised N-acetyl-glucosaminyltransferase II, Arch Dis Child. 71: 123.
41. Jaeken, J., Spik, G. and Schachter, H., 1996, Carbohydrate-deficient glycoprotein syndrome Type II: an autosomal recessive disease due to mutations in the N-acetylglucosaminyltransferase II gene, in: "Glycoproteins and Disease", J. Montreuil, J.F.G. Vliegenthart and H. Schachter, ed., Elsevier, Amsterdam, The Netherlands, 457.
42. Jaeken, J., Vanderschueren-Lodeweyckx, M., Casaer, P., Snoeck, L., Corbeel, L., Eggermont, E. and Eeckels, R., 1980, Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG deficiency, increased serum arylsulphatase A and increased CSF protein: a new syndrome?, Pediatric Res. 14: 179.
43. Knauer, R., Lehle, L., Hanefeld, F. and Vonfigura, K., 1994, Normal N-oligosaccharyltransferase activity in fibroblasts from patients with carbohydrate-deficient glycoprotein syndrome, J Inherited Metab Dis. 17: 541.
44. Kornfeld, R. and Kornfeld, S., 1985, Assembly of asparagine-linked oligosaccharides, Ann. Rev. Biochem. 54: 631.
45. Kornfeld, S., 1990, Lysosomal enzyme targeting, Biochem Soc Trans. 18: 367.
46. Kornfeld, S., Gregory, W. and Chapman, A., 1979, Class E Thy-1 negative mouse lymphoma cells utilize an alternate pathway of oligosaccharide processing to synthesize complex-type oligosaccharides, J.Biol.Chem. 254: 11649.
47. Kornfeld, S. and Mellman, I., 1989, The biogenesis of lysosomes, Annu Rev Cell Biol. 5: 483.
48. Krasnewich, D.M., Holt, G.D., Brandy, M., Skovby, F., Redwine, J. and Gahl, W.A., 1995, Abnormal synthesis of dolichol-linked oligosaccharides in carbohydrate-deficient glycoprotein syndrome, Glycobiology. 5: 503.
49. Kumar, R., Yang, J., Eddy, R.L., Byers, M.G., Shows, T.B. and Stanley, P., 1992, Cloning and expression of the murine gene and chromosomal location of the human gene encoding N-acetylglucosaminyltransferase I, Glycobiology. 2: 383.
50. Kumar, R., Yang, J., Larsen, R.D. and Stanley, P., 1990, Cloning and expression of N-acetylglucosaminyltransferase I, the medial Golgi transferase that initiates complex N-linked carbohydrate formation, Proc Natl Acad Sci Usa. 87: 9948.
51. Madden, M.J., Morrow, C.S., Nakagawa, M., Goldsmith, M.E., Fairchild, C.R. and Cowan, K.H., 1993, Identification of 5′ and 3′ sequences involved in the regulation of transcription of the human mdr1 gene in vivo, J.Biol.Chem. 268: 8290.
52. Martinsson, T., Bjursell, C., Stibler, H., Kristiansson, B., Skovby, F., Jaeken, J., Blennow, G., Stromme, P., Hanefeld, F. and Wahlstrom, J., 1994, Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406, Hum Mol Genet. 3: 2037.
53. Mawby, W.J., Tanner, M.J.A., Anstee, D.J. and Clamp, J.R., 1983, Incomplete glycosylation of erythrocyte membrane proteins in congenital dyserythropoietic anaemia type II (CDA II), British Journal of Haematology. 55: 375.
54. Metzler, M., Gertz, A., Sarkar, M., Schachter, H., Schrader, J.W. and Marth, J.D., 1994, Complex asparagine-linked oligosaccharides are required for morphogenic events during post-implantation development, EMBO J. 13: 2056.
55. Misago, M., Liao, Y.F., Kudo, S., Eto, S., Mattei, M.G., Moremen, K.W. and Fukuda, M.N., 1995, Molecular cloning and expression of cDNAs encoding human alpha-mannosidase II and a previously unrecognized alpha-mannosidase IIx isozyme, Proc Natl Acad Sci USA. 92: 11766.
56. Montreuil, J., 1995, The history of glycoprotein research, a personal view, in: "Glycoproteins", J. Montreuil, J.F.G. Vliegenthart and H. Schachter, ed., Elsevier, Amsterdam, The Netherlands, 1.
57. Montreuil, J., Vliegenthart, J.F.G. and Schachter, H., 1996, "Glycoproteins and Disease", Elsevier, Amsterdam, The Netherlands.
58. Moremen, K.W., 1989, Isolation of a rat liver Golgi mannosidase II clone by mixed oligonucleotide-primed amplification of cDNA, Proc.Natl.Acad.Sci.USA. 86(14): 5276.
59. Moremen, K.W. and Robbins, P.W., 1991, Isolation, characterization, and expression of cDNAs encoding murine alpha-mannosidase II, a Golgi enzyme that controls conversion of high mannose to complex N-glycans, J Cell Biol. 115: 1521.
60. Moremen, K.W. and Touster, O., 1986, Topology of mannosidase II in rat liver Golgi membranes and release of the catalytic domain by selective proteolysis, J.Biol.Chem. 261: 10945.
61. Moremen, K.W., Touster, O. and Robbins, P.W., 1991, Novel purification of the catalytic domain of Golgi alpha-mannosidase II. Characterization and comparison with the intact enzyme, J Biol Chem. 266: 16876.
62. Moremen, K.W., Trimble, R.B. and Herscovics, A., 1994, Glycosidases of the asparagine-linked oligosaccharide processing pathway, Glycobiology. 4: 113.
63. Nathan, D.G. and Oski, F.A., 1987, "Hematology of Infancy and Childhood", W.B.Saunders Company, Philadelphia, PA.
64. Ohno, K., Yuasa, I., Akaboshi, S., Itoh, M., Yoshida, K., Ehara, H., Ochiai, Y. and Takeshita, K., 1992, The carbohydrate deficient glycoprotein syndrome in three Japanese children, Brain Dev. 14: 30.
65. Pan, Y.T. and Elbein, A.D., 1995, How can N-linked glycosylation and processing inhibitors be used to study carbohydrate synthesis and function, in: "Glycoproteins", J. Montreuil, J.F.G. Vliegenthart and H. Schachter, ed., Elsevier, Amsterdam, The Netherlands, 415.
66. Panneerselvam, K. and Freeze, H.H., 1995, Enzymes involved in the synthesis of mannose-6-phosphate from glucose are normal in carbohydrate deficient glycoprotein syndrome fibroblasts, Biochem Biophys Res Commun. 208: 517.
67. Panneerselvam, K. and Freeze, H.H., 1996a, Mannose corrects altered N-glycosylation in carbohydrate-deficient glycoprotein syndrome fibroblasts, J Clin Invest. 97: 1478.
68. Panneerselvam, K. and Freeze, H.H., 1996b, Mannose enters mammalian cells using a specific transporter that is insensitive to glucose, J Biol Chem. 271: 9417.
69. Phillips, M.L., Schwartz, B.R., Etzioni, A., Bayer, R., Ochs, H.D., Paulson, J.C. and Harlan, J.M., 1995, Neutrophil adhesion in leukocyte adhesion deficiency syndrome type 2, J Clin Invest. 96: 2898.
70. Powell, L.D., Paneerselvam, K., Vij, R., Diaz, S., Manzi, A., Buist, N., Freeze, H. and Varki, A., 1994, Carbohydrate-deficient glycoprotein syndrome: Not an N-linked oligosaccharide processing defect, but an abnormality in lipid-linked oligosaccharide biosynthesis?, J Clin Invest. 94: 1901.
71. Pownall, S., Kozak, C.A., Schappert, K., Sarkar, M., Hull, E., Schachter, H. and Marth, J.D., 1992, Molecular cloning and characterization of the mouse UDP-N-acetylglucosamine: alpha-3-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I gene, Genomics. 12: 699.
72. Pugh, B.F. and Tjian, R., 1990, Mechanism of transcriptional activation by Sp1: evidence for coactivators, Cell. 61: 1187.
73. Ramaekers, V.T., Stibler, H., Kint, J. and Jaeken, J., 1991, A new variant of the carbohydrate deficient glycoproteins syndrome, J.Inher.Metab.Dis. 14: 385.
74. Rearick, J., Chapman, A. and Kornfeld, S., 1981, Glucose starvation alters lipid-linked oligosaccharide biosynthesis on Chinese hamster ovary cells, J.Biol.Chem. 256: 6255.
75. Saito, H., Gu, J.G., Nishikawa, A., Ihara, Y., Fujii, J., Kohgo, Y. and Taniguchi, N., 1995, Organization of the human N-acetylglucosaminyltransferase V gene, Eur J Biochem. 233: 18.
76. Scartezzini, P., Forni, G.L., Baldi, M., Izzo, C. and Sansone, G., 1982, Decreased glycosylation of band 3 and band 4.5 glycoproteins of erythrocyte membrane in congenital dyserythropoietic anaemia type II, Brit.J.Haematol. 51: 569.
77. Schachter, H., 1986, Biosynthetic controls that determine the branching and microheterogeneity of protein-bound oligosaccharides, Biochem. Cell Biol. 64: 163.
78. Schachter, H., 1991, The "yellow brick road" to branched complex N-glycans, Glycobiology. 1: 453.
79. Schachter, H., 1994, Molecular Cloning of Glycosyltransferase Genes, in: "Molecular Glycobiology", M. Fukuda and O. Hindsgaul, ed., Oxford University Press, Oxford, UK, 88.
80. Schachter, H., 1995, Glycosyltransferases involved in the synthesis of N-glycan antennae, in: "Glycoproteins", J. Montreuil, J.F.G. Vliegenthart and H. Schachter, ed., Elsevier, Amsterdam, The Netherlands, 153.
81. Stibler, H., Blennow, G., Kristiansson, B., Lindehammer, A. and Hagberg, B., 1994, Carbohydrate-deficient glycoprotein syndrome: Clinical expression in adults with a new metabolic disease, J Neurol Neurosurg Psychiatry. 57: 552.
82. Stibler, H., Stephani, U. and Kutsch, U., 1995, Carbohydrate-deficient glycoprotein syndrome - A fourth subtype, Neuropediatrics. 26: 235.
83. Stibler, H., Westerberg, B., Hanefeld, F. and Hagberg, B., 1993, Carbohydrate deficient glycoprotein (CDG) syndrome - a new variant, type III, Neuropediatrics. 24: 51.
84. Struck, D.K. and Lennarz, W.J., 1980, The function of saccharide-lipids in synthesis of glycoproteins, in: "The Biochemistry of Glycoproteins and Proteoglycans", W.J. Lennarz, ed., Plenum Press, New York, N.Y., 35.
85. Tan, J., D'Agostaro, C.A.F., Bendiak, B., Reck, F., Sarkar, M., Squire, J.A., Leong, P. and Schachter, H., 1995, 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, Eur J Biochem. 231: 317.
86. Tan, J., Dunn, J., Jaeken, J. and Schachter, H., 1996, Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause Carbohydrate-Deficient Glycoprotein Syndrome Type II, an autosomal recessive disease with defective brain development, American J.Human Genetics. 59: 810.
87. Tropea, J.E., Kaushal, G.P., Pastuszak, I., Mitchell, M., Aoyagi, T., Molyneux, R.J. and Elbein, A.D., 1990, Mannostatin A, a new glycoprotein-processing inhibitor, Biochemistry. 29: 10062.
88. Tulsiani, D.R., Opheim, D.J. and Touster, O., 1977, Purification and characterization of alpha-D-mannosidase from rat liver golgi membranes., J.Biol.Chem. 252: 3227.
89. Tulsiani, D.R. and Touster, O., 1985, Characterization of a novel α-D-mannosidase from rat brain microsomes, J.Biol.Chem. 260: 13081.
90. Tulsiani, D.R.P., Harris, T.M. and Touster, O., 1982, Swainsonine inhibits the biosynthesis of complex glycoproteins by inhibition of Golgi mannosidase II, J.Biol.Chem. 257: 7936.
91. van den Eijnden, D.H., Koendernian, A.H.L. and Schiphorst, W.E.C.M., 1988, Biosynthesis of blood group i-active polylactosaminoglycans. Partial purification and properties of an UDP-GlcNAc:N-acetyllactosaminide β1->3-N-acetylglucosaminyltransferase from Novikoff tumor cell ascites fluid, J. Biol. Chem. 263: 12461.
92. Van Schaftingen, E. and Jaeken, J., 1995, Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I, FEBS Lett. 377: 318.
93. Varki, A., 1993, Biological roles of oligosaccharides: All of the theories are correct, Glycobiology. 3: 97.
94. Velasco, A., Hendricks, L., Moremen, K.W., Tulsiani, D., Touster, O. and Farquhar, M.G., 1993, Cell type-dependent variations in the subcellular distribution of alpha-mannosidase I and II, J Cell Biol. 122: 39.
95. 2-protein: transfer'en bloc' and processing, in: "Glycoproteins", J. Montreuil, J.F.G. Vliegenthart and H. Schachter, ed., Elsevier, Amsterdam, The Netherlands, 145.
96. Verwilghen, R.L., Lewis, S.M., Dacie, J.V., Crookston, J.H. and Crookston, M.C., 1973, HEMPAS: congenital dyserythropoietic anaemia (type II), Quarterly Journal of Medicine N.S. 42: 257.
97. Von Andrian, U.H., Berger, E.M., Ramezani, L., Chambers, J.D., Ochs, H.D., Harlan, J.M., Paulson, J.C., Etzioni, A. and Arfors, K.E., 1993, In vivo behavior of neutrophils from two patients with distinct inherited leukocyte adhesion deficiency syndromes, J Clin Invest. 91: 2893.
98. Wada, Y., Gu, J.G., Okamoto, N. and Inui, K., 1994, Diagnosis of Carbohydrate-Deficient Glycoprotein Syndrome by Matrix-Assisted Laser Desorption Time-of-Flight Mass Spectrometry, Biol Mass Spectrom. 23: 108.
99. 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, Biochem Biophys Res Commun. 189: 832.
100. Wasylyk, B., Hahn, S.L. and Giovane, A., 1993, The Ets family of transcription factors, Eur.J.Biochem. 211: 7.
101. Yamashita, K., Ideo, H., Ohkura, T., Fukushima, K., Yuasa, I., Ohno, K. and Takeshita, K., 1993a, 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.
102. Yamashita, K., Ohkura, T. and Fukushima, K., 1996, A partial deficiency of dehydrodolichol reduction is a cause of carbohydrate-deficient glycoprotein syndrome type I, Abstracts International Symposium on Molecular and Cell Biology pf Glycoconjugate Expression Switzerland.
103. Yamashita, K., Ohkura, T., Ideo, H., Ohno, K. and Kanai, M., 1993b, Electrospray Ionization-Mass Spectrometric Analysis of Serum Transferrin Isoforms in Patients with Carbohydrate-Deficient Glycoprotein Syndrome, J Biochem Tokyo. 114: 766.
104. Yamashita, K. and Ohno, K., 1996, Carbohydrate-Deficient Glycoprotein Syndrome Type I, in: "Glycoproteins and Disease", J. Montreuil, J.F.G. Vliegenthart and H. Schachter, ed., Elsevier, Amsterdam, The Netherlands, 445.
105. Yang, J., Bhaumik, M., Liu, Y. and Stanley, P., 1994, Regulation of N-linked glycosylation. Neuronal cell-specific expression of a 5′ extended transcript from the gene encoding N-acetylglucosaminyltransferase I, Glycobiology. 4: 703.
106. 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.
107. Yip, B., Mulder, H., Chen, S., Höppener, J.W.M. and Schachter, H., 1996, Organization of the human β1-2N-acetylglucosaminyltransferase I gene (MGAT1) which controls complex and hybrid N-glycan synthesis, Biochemical J. In press.:
108. Zdebska, E., Anselsetter, V., Pacuszka, T., Krauze, R., Chelstowska, A., Heimpel, H. and Koscielak, J., 1987, Glycolipids and glycopepties of red cell membranes in congenital dyserythropoietic anemia type II (CDAII), British J.Haematol. 66: 385.