Carbohydrate-deficient glycoprotein syndromes

• Autorzy: Koscielak J.
• Języki publikacji: EN

Abstrakty

EN

Carbohydrate-deficient glycoprotein syndromes are rare, multisystemic diseases, typically with major nervous system impairment, that are caused by hypo-and unglycosylation of N-linked glycoproteins. Hence, a biochemical evidence of this abnormality, like hypoglycosylation of serum transferrin is essential for diagnosis. Clinically and biochemically, six types of the disease have been delineated. Three of them are caused by deficiencies of the enzymes that are required for a proper glycosylation of lipid - (dolichol) linked oligosaccharide (phosphomannomutase or phosphomannose isomerase or alpha-glycosyltransferase), and one results from a deficiency of Golgi resident N-acetylglucosaminyltransferase II. In addition one variant of the disease has been reported as due to a defective biosynthesis of dolichol iself. The diseases are heritable but genetics has been established for only two types. Therapy, based on administration of mannose to patients is currently under investigation. It benefits patients with deficiency of phosphomannose isomerase. Taking into account the complexity of N-linked glycosylation of proteins more of the disease variants is expected to be found.

Słowa kluczowe

EN

disease; genetics; biochemical abnormality; carbohydrate-deficient glycoprotein syndrome; clinical symptom; diagnosis; treatment; nervous system; N-linked glycosylation; carbohydrate; N-linked glycoprotein

• Wydawca: -
• Czasopismo: Acta Biochimica Polonica
• Rocznik: 1999
• Tom: 46
• Numer: 3
• Opis fizyczny: p.727-738,fig.

Twórcy

autor

Koscielak J.

• Institute of Hematology and Blood Transfusion, 00-957 Warsaw, Chocimska 5, Poland

Bibliografia

• 1. Kristiansson, B., Stabler, H., Hagberg, B. & Wahlstrom, J. (1998) CDGS-I a recently dis­covered hereditary metabolic disease. Multi­ple organ manifestations, incidence 1/80.000, difficult to treat Lakartidningen 95, 5742- 5748.
• 2. Jaeken, J., Hagberg, B. & Strcmme, P. (1991) Clinical presentation and natural course of the carbohydrate-deficient glycoprotein syn­drome. Acta Paediatr. Scand. (Suppl.) 375, 6- 13.
• 3. Barone, R., Carchon, H., Jansen, E., Pavone, L., Fiumara, A., Bosshard, N.U., Gitzelmann, R. & Jaeken, J. (1998) Lysosomal enzyme ac­tivities in serum and leukocytes from patients with carbohydrate-deficient glycoprotein syn­drome type IA (pho8phomannomutase defi­ciency). J. Inker. Metab. Dis. 21, 167-172.
• 4. Midro, A.T., Hanefeld, F., Zadrożna- Tolwińska, B., Stibler, H., Olchowik, B. & Stasiewicz-Jarocka, B. (19%) Jaeken's (CDG) syndrome in siblings. Pediatria Pol 71, 621-628.
• 5. Jaeken, J., Matthijs, G., Barone, R. & Carchon, H. (1997) Syndrome of the month: Carbohy­drate-deficient glycoprotein syndrome (CDG) type I. J. Med. Genet 34, 73-76.
• 6. Krasnewich, D. & Gahl, W.A. (1997) Carbohy- drate-deficient glycoprotein syndrome. Adv. Pediatr. 215, 145-157.
• 7. Spik, G., Bayard, B., Fournet, B., Strecker, Bouquuelet, S. & Montreuil, J. (1975) Studies on glycoconjugates. LXIV. Complete structure of two carbohydrate units of human aero- transferrin. FEBS Lett 50, 296-299.
• 8. Coddeville, B., Carchon, H., Jaeken, J., Briand, G. & Spik, G. (1998) Determination of glycan structures and molecular masses of the glycovariants of serum transferrin from a pa­tient with carbohydrate deficient syndrome type II. Glycoconj. J. 15, 265-273.
• 9. Stibler, H., Borg, S. & Allgulander, C. (1979) Clinical significance of abnormal heterogene­ity of transferrin in relation to alcohol con­sumption. Acta Med. Scand. 206, 275-281.
• 10. Burke, V., Puddey, I.B., Rakic, V., Swanson, N.R., Dimmitt, S.B., Beilin, L.J., Ching, S. & Beilby, J.P. (1998) Alcohol Clin. Exp. Res. 22, 1973-1980.
• 11. Jaeken, J., Vanderschueren-Lodeweyck, M., Casaer, P., Snoeck, L., Corbeel, L., Eggermont, E. & 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? Pediatr. Res. 14, 179.
• 12. van Schaftingen, E. & Jaeken, J. (1995) Phos- phomannomutase deficiency is a cause of car­bohydrate-deficient glycoprotein syndrome type I. FEBS Lett 377, 318-320.
• 13. Jaeken, J., Artigas, J., Barone, R., Fiumar, A., de Koning, T.J., Poll-The, B.T., de Rijk-van Andel, J.F., Hoffmann, G.F., Assmann, B., Mayatepek, E., Pineda, M., Vilaseca, M.A., Saudubray, J.M., Schlüter, B., Wevers, R. & van Schaftingen, E. (1997) Phosphomanno- mutase deficiency is the main cause of carbo­hydrate-deficient glycoprotein syndrome with type I isoelectrofocu8ing pattern of serum sialotransferrins. J. Inker. Metab. Dis. 20, 447-449.
• 14. de Koning, TJ., Dorland, L., van Diggelen, O.P., Boonman, A.M.C., de Jong, G.J., van Noort, W.L., de Scryver, J., Duran, M., van den Berg, I.E.T., Gerwig. G.J., Berger, R. & Polle-The, B.T. (1998) A novel disorder of N-glycosylation due to phosphomannomutase isomerase deficiency. Biochem. Biophys. Res. Commun. 245, 38-42.
• 15. Niehues, R., Hasilik, M., Alton, G., Körner, Ch., Schiebe-Sukumar, M., Koch, H.G., Zim­mer, K.-P., Rongrong, W., Harms, E., Reiter, E., von Figura, K., Freeze, H.H., Harms, H.K. & Marquardt, T. (1998) Carbohydrate^iefi- cient glycoprotein syndrome type lb. Phos- phomannose isomerase deficiency and mannose therapy. J. Clin. Invest. 101, 1414- 1420.
• 16. Jaeken, J., Matthijs, G., Sandubray, J.M., Dionisivici, C., Bertini, E. & Delonlay, P. (1998) Phosphomannose isomerase deficiency — A carbohydrate-deficient glycoprotein syn­drome with hepatic-intestinal presentation. Am. J. Huml Genet 62, 1535-1539.
• 17. Jaeken, J., de Cock, P., Stibler, H., van Geet, C., Kint, J., Ramaekers, V. & Carchon, H. (1993) Carbohydrate-deficient glycoprotein syndrome type II. J. Inker. Metab. Dis. 16, 1041.
• 18. Stibler. H., Westerberg, B., Hanefeld, F. & Hagberg, B. (1993) Carbohydrate-deficient glycoprotein (CDG) syndrome — a new vari­ant, type III. Neuropediatrics 24, 51-52.
• 19. Stibler, H., Stephani, U. & Kutsch, U. (1995) Carbohydrate-deficient glycoprotein syn­drome — a fourth subtype. Neuropediatrics 26, 235-237
• 20. Burda, P., Borsig, L., de Rijk-van Andel, J., Wevers, R., Jaeken, J., Carchon, H., Berger, E.G. & Aebi, M. (1998) A novel carbohy- drate-deficient glycoprotein syndrome charac­terized by a deficiency in glucosylation of the dolichol-linked oligosaccharide. J. Clin. Invest. 102, 647-652.
• 21. Korner, Ch., Knauer, R., Holzbach, U., Hanefeld, F., Lehle, L. & von Figura, K. (1998) Carbohydrate-deficient glycoprotein syn­drome type V: Deficiency of dolichyl-P-Glc: Man9GlcNAc2-PP-dolichyl glucosyltransfera­se. Proc. Natl Acad. ScL U.S.A. 95, 13200- 13205.
• 22. Jaeken, J., Schachter, H., Carchon, H., De Cock, P., Coddeville, B. & Spik, G. (1994) Car­bohydrate deficient glycoprotein syndrome type II: A deficiency in Golgi localized iV-acetylglucosaminyltransferase II. Arch. Dis. Child. 71, 123-127.
• 23. Charuk, J.H.M., Tan, J., Bernardini, M., Hadelad, S., Reithmeier, R.A.F., Jaeken, J. & Schachter, H. (1995) Carbohydrate
• 24. Chapman, A., Li, E. & Kornfeld, S. (1979) The biosynthesis of the major lipid-linked oligo­saccharide of Chinese hamster ovary cells oc­curs by the ordered addition of mannose resi­dues. J. Biol Chem. 254, 10243-10249.
• 25. Burda, P. & Aebi, M. (1999) The dolichol path­way of N-linked glycosylation. Biochinu Biophys. Acta 1426, 239-257.
• 26. Verbert, A. (1995) Biosynthesis 2b. From GlcsMangGlcNAc-protein to MangGlcNAc2- protein; in Glycoproteins (Montreuil, J., Vliegenthart, J.F.G. & Schachter, H., eds.) pp. 145-152, Elsevier Science B.V.. Amsterdam.
• 27. Schutzbach, J.S. (1997) The role of the lipid matrix in the biosynthesis of dolichyl-linked oligosaccharides. Glycoconjugate J. 14, 175- 182.
• 28.Suberstein, S. & Gelmore, R. (1996) Biochem­istry, molecular biology and genetics of the oligosaccharyltransferase. FASEB J. 10, 849-858.
• 29. Zhang, J.X., Braakman, I., Mattach, K.E. & Helenius, A. (1997) Quality control in the se­cretory pathway: The role of calrericulin, calnexin, and BiP in the retension of glycoproteins with C-terminal truncations. Mol Biol. Cell 8, 1943-1954.
• 30. Cannon, K.S. & Helenius, A. (1999) Trimming and readdition of glucose to N-linked oligosac­charides determines calnexin association of a substrate glycoprotein in living cells. J. Biol Chem. 274, 7537-7544.
• 31. Schachter. H. (1995) Biosynthesis 2c. Glycosyltransferases involved in the synthesis of N-glycan antennae; in Glycoproteins (Mon- treuil, J., Vliegenthart, J.F.G. & Schachter, H., eds.) pp. 153-199, Elsevier Science B.V., Am­sterdam.
• 32. Bill, R.M., Revers, L. & Wilson, I.B.H. (1998) Adding the finishing touches: terminal elabo­rations; in Protein Glycosylation, pp. 329-408, Kluwer Academic Publishers, Boston, Dordrecht, London.
• 33. Hirschberg, C.B., Robbins, P.W. & Abeijon, C. (1998) Transporters of nucleotide sugars, ATP, and nucleotide sulfate in the endo­plasmic reticulum and Golgi apparatus. Annu. Rev. Biochem. 67, 49-69.
• 34. Knauer, R., Lehle, F., Hanefeld, F. & von Figura, K. (1994) Normal TV-oligosaccharyl- transferase activity in fibroblasts from pa­tients with carbohydrate-deficient glyco­protein syndrome. J. Inker. Metab. Dis. 17, 541-544.
• 35. Yasugi, E.M., Nakasuji, M., Dohi, T. & Oshima, M. (1994) Major defects of carbohy­drate-deficient glycoprotein »yndrome is not found in the synthesis of dolichyl phosphate on N-acetylglucosaminyl-pyrophosphoryl-doli- chol. Biochem. Biophys. Res. Commun. 200, 816- 820.
• 36. Doering, T., Masterson, W.J., Hart, G.W. & Englund, P.T. (1990) Biosynthesis of glucosyl phosphatidylinositol membrane anchors. J. Biol Chem. 265, 611-614.
• 37. Krieg, J., Glasnor, W., Vicontini, A., Doncey, M.A., Löffler, A., Hess, D. & Hofsteenge, J. 1997) C-Mannosylation of human RNase 2 is an intracellular process performed by a vari­ety of cultured cells. J. Biol Chem. 272, 26687-26692.
• 38. Vliegenthart, J.F.G. & Casset, F. (1998) Novel forms of protein glycosylation. Curr. Opin. Struct. Biol 8, 565-571.
• 39. Doncey, M.A., Hess, D., Cacan, R. & Hofsteenge, J. (1998) Protein C-mannosyl- ation is enzyme-catalysed and uses dolichyl phosphate-mannose as a precursor. Mol. Biol Cell 9, 291-300.
• 40. Krieg, J., Hartmann, S., Vicentini, A., Gläsner, W., Hess, D. & Hofsteenge, J. (1998) Recognition signal for C-mannosylation of Trp-7 in RNase 2 consists of sequence Trp-xx-Trp. Mol Biol Cell 9, 301-309.
• 41. Alton, G., Hasilik, M., Niehues, R., Pan- neerselvam, K., Etchison, J.R., Fana, F. & Freeze, H.H. (1998) Direct utilization of mannose for mammalian glycoprotein bio­synthesis. Glycobiology 8, 285-295.
• 42. Schwartz, N.B. (1992) Carbohydrate metabo­lism. II. Special pathways; in Textbook of Bio­chemistry with Clinical Correlations (Devlin, A., ed.) pp. 359-386, 3rd edn., Wiley-Liss, New York.
• 43. Körner, Ch., Lehle, L. & von Figura, K. (1998) Abnormal synthesis of mannose l-phosphate derived carbohydrates in carbohydrate-defi­cient glycoprotein syndrome type I fibroblasts with pho8phomannomutase deficiency. Glyco­biology 8, 165-171.
• 44. Panneerselvam, K., Etchison, J.R., Skovby, F. & Freeze, H.H. (1997) Abnormal metabolism of mannose in families with carbohydrate defi­cient glycoprotein syndrome type I. Biochem. Mol Med. 61, 161-167.
• 45. Adamowicz, M. & Pronicka, E. (1996) Carbo­hydrate deficient glycoprotein syndrome-like transferrin isoelectric focusing pattern in un­treated fruct08aemia. Eur. J. Pediatr. 155, 347-348.
• 46. Ali, M., ReUcs, P. & Cox, T.M. (1998) Heredi­tary fructose intolerance. J. Med. Genet 35, 353-365.
• 47. Jaeken, J., Pirard, M., Adamowicz, M., Pronicka, E. & van Schaftingen, E. (1996) In­hibition of phosphomannose isomerase by fructose l-phosphate: An explanation for de­fective N-glycosylation in hereditary fructose intolerance. Pediatr. Res. 40, 764-766.
• 48. Powell, L.D., Panneerselvam, K., Vij, R., Diaz, S., Manzi, A., Buist> N., Freeze, H. & Varki, A. (1994) Cartohydrate-deficient glycoprotein syndrome: Not an N-linked oligosaccharide processing defect, but an abnormality in lipid-linked oligosaccharide biosynthesis? J. Clin. Invest 94, 1901-1909.
• 49. Krasnewich, D.M., Holt, G.D., Brantly, M., Skovby, F., Redwine, J. & Gahl, W.A. (1995) Abnormal synthesis of dolichol-linked oligo­saccharides in carbohydrate-deficient glyco­protein syndrome. Glycobiology 5, 503-510.
• 50. Marquardt, T., Ullrich, K., Zimmer, P., Hasilik, A., Deufel, T. & Harms, E. (1995) Car­bohydrate-deficient glycoprotein syndrome (CDGS) — glycosylation, folding, and intra­cellular transport of newly synthesized glycoproteins. Eur. J. Cell Biol 66, 268-273.
• 51. Porwoll, S., Loch, N., Kannicht, C., Nuck, R., Grunow, D., Reutter, W. & Tauber, R. (1998) Cell surface glycoproteins undergo post- biosynthetic modification of their N-glycans by stepwise demannosylation. J. Biol Chem. 273, 1075-1085.
• 52. Quellhorst, G.J., Jr., O'Rear, J.L.O., Cacan, R., Verbert, A. & Kraep, S. (1999) Nongluco- sylated oligosaccharides are transferred to protein in MI8-5 Chinese hamster ovary cells. Glycobiology 9, 65-72.
• 5S.Okkura, T., Pukushima, K., Kurisaki, A., Sagami, H., Ogura, K., Ohno, K., Hara-Kuge, S. & Yamashita, K. (1997) A partial deficiency of dehydrodolichol reduction is a cause of car­bohydrate-deficient glycoprotein syndrome type I. J. Biol Chem. 272, 6868-6875.
• 54.Fukuda, M.N., Dell, A. & Scartezzini, P. (1987) Primary defect of congenital dyserythropo­ietic anemia type II. Failure in glycosylation of erythrocyte lactosaminoglycan proteins caused by lowered N-acetylglucosaminyl- transferase II. J. Biol Chem. 262,7195-7206.
• 55.Iolascon, A. de Giudice, E.M., Perratta, S., Granatiero, M., Zelante, L. & Gasparini, P. (1997) Exclusion of three candidate genes as determinants of congenital dyserythropoietic anemia type II (CDAII) Blood 90,4197-4200.
• 56. Ga8parini, P., del Givdice, E.M. & Delaunnay, J. (1997) Localization of the congenital dyserythropoietic anemia II locus to chromo­some 20qII.2 by genomewide search. Am. J. Hum. Genet 61, 1112-1116.
• 57. Martinsson, T., Bjursell, C., Stibler, H., Kris- tiansson, B., Skovby, F., Jaeken, J., Blennow, G., Stromme, P., Hanefeld, F. & Wahlstrom, J. (1994) Linkage of a locus for carbohy­drate-deficient glycoprotein syndrome type I (CDGl) to chromosome 16p, and linkage dis­equilibrium to microsatellite marker D16S- 406. Hum. Mol Genet 3, 2037-2042.
• 58. Bjursell, C., Stibler, H., Wahlstrom, J., Kristiansson, B., Skovby, F., Stromme, P., Blennow, G. & Martinsson, T. (1997) Fine mapping of the gene for carbohydrate-de­ficient glycoprotein syndrome, type I (CDGl): Linkage disequilibrium and founder effect in Scandinavian families. Genomics 39, 247- 253.
• 59. Matthijs, G., Schollen, E., van Schaftingen, E., Cassiman, J.-J. & Jaeken, J. (1998) Lack of homozygotes for the most frequent disease al­lele in carbohydrate-deficient glycoprotein syndrome type IA. Am. J. Hum. Genet 62, 542-550.
• 60. Kjaergaard, S., Skovby, F. & Schwartz, M. (1998) Absence of homozygosity for predomi­nant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syn­drome type 1. Eur. J. Hum. Genet 6,331-336.
• 61. Kondo, I., Mizugishi, K., Yoneda, Y., Hashi­moto, T., Kuwajima, K., Yuasa, I., Shigemoto, K. & Kuroda, I. (1999) Missense mutations in phosphomannomutase 2 gene in two Japanese families. Clin. Genet. 55, 50-54.
• 62. Matthijs, G., Schollen, E., Pirard, M., Budarf, M.L., van Schaftigen, E. & Cassiman, J.-J. (1997) PMM (PMM1), the human homologue of SEC53 or yeast phosphomannomutase, is localized on chromosome 22ql3. Genomics 40, 41-47.
• 63. Hansen, S.H., Frank, S.R., Casanova, J.E. (1997) Cloning and characterization of human phosphomannomutase, a mammalian homolo­gue of yeast SEC53. Glycobiology 7,829-834.
• 64. Pirard, M., Collet, J. F., Matthijs, G. & van Schaftingen, E. (1997) Comparison of PMMl with the phosphomannomutase expressed in rat liver and in human cells. FEBS Lett 411, 251-254.
• 65.Schollen, E., Pardon, E., Heykants, L., Renard, J., Doggett, N.A., Callen, D.F., Cassiman, J.-J. & Matthijs, G. (1998) Compar­ative analysis of the phosphomannomutase genes PMMl, PMM2 and PMM2ip: The se­quence variation in the processed pseudogene is a reflection of the mutations found in the functional gene. Hum. Molec. Genet!, 157- 164.
• 66.Tan, J., D'Agostaro, G.A.F., Bendiak, B., Reck, F., Sarkar, M.f Squire, J.A. & Lcong, P. (1995) The human UDP-N-acetylglucosamine: Alpha- 6-I>-manoside-beta-l,2-N-acetylglucosaminyl- transferase 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, 317-328.
• 67. Tan, J., Dunn, J., Jaeken, J. & 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. Am. J. Hum. Genet 59, 810-817.
• 68. Panneerselvam, K. & Freeze, H.H. (1996) Mannose corrects altered N-glycosylation in carbohydrate^leficient glycoprotein syndrome fibroblasts. J. Clin. Invest 97, 1478-1487.
• 69. Alton, G., Kjaergaard, S., Etchison, J.R., Skovby, F. & Freeze, H.H. (1997) Oral inges­tion of mannose elevates blood mannose lev­els: A first step toward a potential therapy for carbohydrate-deficient glycoprotein syndrome type I. Biol Mol Med. 60, 127-133.
• 70. Panneerselvam, K. & Freeze, H.H. (1996) Mannose enters mammalian cells using a spe­cific transporter that is insensitive to glucose. J. Biol Chem. 271, 9417-9421.
• 71. Panneerselvam, K., Etchison, J.R. & Freeze, H.H. (1997) Human fibroblasts prefer manno­se over glucose as a source of mannose for N-glycosylation. Evidence for the functional importance of transported mannose. J. Biol Chem. 272, 23123-23129, published erratum J. Biol Chem. 272, 33444.
• 72. Silverman, M., Aganon, M.A. & Chinard, F.P. (1970) Specificity of monosaccharide trans­port in dog kidney. Am. J. Physiol 218, 743-750.
• 73. Pritchard, J.B., Brooz, G.W. & Kleinzeller, A. (1982) Renal sugar transport in the winter flounder. VI. Reabsoption of l>-mannose. Am. J. Physiol 242, F41G-F422.
• 74. Kjaergaard, S., Kristiansson, B., Stibler, H., Freeze, H.H., Schwartz, M., Martinsson, T. & Skovby, F. (1998) Failure of short-term mannose therapy of patients with carbohy- drate-deficient glycoprotein syndrome type 1A. Acta Paediatr. 87, 884-888.
• 75. Mayatepek, E., Schroder, M., KoKlmiiller, D., Bieger, W.P. & Niitzenadel, W. (1997) Contin­uous mannose infusion in carbohydrate-de- ficient glycoprotein syndrome type I. Acta Paediatr. 86, 1138-1140.
• 76. Varki, A. (1993) Biological roles of oligosac­charides: All of the theories are correct. Glyco- biology 3, 97-130.
• 77. Kukuruzinska, M.A. & Lennon, K. (1998) Pro­tein N-glycosylation: Molecular genetics and functional significance. Crit Rev. Oral Biol. Med 9, 415-448.
• 78. Young, G. & Driscoll, M.C. (1999) Coagulation abnormalities in the carbohydrate-deficient glycoprotein syndrome: Case report and re­view of the literature. Am. J. HematoL 60, 66-69.
• 79. Gu, J. & Wada* Y. (1996) Effect of exogenous decorin on cell morphology and attachment of decorin-deficient fibroblasts. J. Biochem. 119, 743-748.
• 80. Gu, J. & Wada, Y. (1995) Aberrant expres­sions of decorin and biglycan genes in the car­bohydrate-deficient glycoprotein syndrome. J. Biochem. 117, 1276-1279.
• 81. Yuen, C.T., Chai, W., Loveless, R.W., Lawson, A.M., Hargdis, R.U. & Feizi, T. (1997) Brain contains HNK-1 immunoreactive O-glycans of the sulfoglucuronyl lactosamine series that terminate in 2-linked or 2,6-linked hexose (mannose). J. Biol Chem. 272, 8924-8931.
• 82.Chiba, A., Matsumura, K., Yomada, H., Inazu, T., Shimizu, T., Kusunoki, S., Kanazawa, I., Kobata, A. & Endo, T. (1997) Structures of sialylated O-linked oligosaccharides of bovine peripheral nerve a-dystroglycan. The role of a novel O-mannosyl-type oligosaccharide in the binding of a-dystroglycan with laminin. J. Biol Chem. 272, 2156-2162.
• 83.Smalheiser, N.R., Haslam, S.M., Sutton- Smith, M., Morns, H.R. & Dell, A. (1998) Structural analysis of sequences O-linked to mannose reveals a novel Lewis X structure in craning (dystroglycan) purified from sheep brain. J. Biol Chem 273, 23698- 23703.
• 84. Stibler, H., Holzbach, U. & Kristiansson, B. (1998) Isoforms and levels of transferrin, antithrombin, alpha (l>antitrypsin and thy- roxin-binding globulin in 48 patients with car­bohydrate-deficient glycoprotein syndrome type I. Scand. J. Clin. Lab. Invest 58,55-61.
• 85. Freeze, H.H. (1998) Disorders in protein glyco- sylation and potential therapy: Tip of an ice­berg? J. Pediatr. 133, 593-600.