Inherited disorders of glycoprotein synthesis: Cell biological insights

Proceedings of the Society for Experimental Biology and Medicine

Volumn 215, Issue 2, 1997, Pages 145-157

  Mcdowell, Geraldine ^a   Gahl, William A ^a  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHONDRODYSPLASIA; CORNEA DYSTROPHY; EHLERS DANLOS SYNDROME; ENZYME DEFICIENCY; GENETIC DISORDER; GLYCOPROTEIN SYNTHESIS; HUMAN; METABOLIC DISORDER; MUCOLIPIDOSIS TYPE 2; RETINA MACULA DEGENERATION; SHORT SURVEY; SPONDYLOEPIPHYSEAL DYSPLASIA;

EID: 0030977458     PISSN: 00379727     EISSN: None     Source Type: Journal    
DOI: 10.3181/00379727-215-44121     Document Type: Short Survey

References (89)

1. Varki A. Biological roles of oligosaccharides: All of the theories are correct. Glycobiology 3:97-130, 1993.
2. Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Eds. The Metabolic and Molecular Basis of Inherited Disease (7th ed.) New York: McGraw-Hill, Vol 2:pp2465-2494, 1995.
3. Thomas GH, Beaudet AL. Disorders of glycoprotein degradation and structure: α-Mannosidosis, β-mannosidosis, fucosidosis, sialidosis, aspartylglucosaminuria and carbohydrate-deficient glycoprotein syndrome. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Eds. The Metabolic and Molecular Basis of Inherited Disease (7th ed). New York: McGraw-Hill, Vol 2:pp2529-2561, 1995.
4. Chen Y-T, Burchell A. Glycogen storage diseases In: Scriver CR, Beaudet AL, Sly WS, Valle D, Eds. The Metabolic and Molecular Basis of Inherited Disease (7th ed). New York: McGraw-Hill, Vol 1:pp935-965, 1995.
5. Struck DK, Lennarz EJ. The function of saccharide-lipids in synthesis of glycoproteins. In: Lennarz WJ, Ed. The Biochemistry of Glycoproteins and Proteoglycans. New York: Plenum, pp35-83, 1980.
6. Kornfeld R, Kornfeld S. Assembly of asparagine-linked oligosaccharides. Annu Rev Biochem 54:631-664, 1985.
7. Schachter H, Roseman S. Mammalian glycosyltransferases: Their role in the synthesis and function of complex carbohydrates and glycolipids. In: Lennarz WJ, Ed. The Biochemistry of Glycoproteins and Proteoglycans. New York: Plenum, pp85-160, 1980.
8. Holt GD, Haltiwanger RS, Torres C-R, Hart GW. Nuclear pore complex glycoproteins contain cytoplasmically disposed O-linked N-acetylglucosamine. J Biol Chem 262:14847-14850, 1987.
9. Cohn DH, Byers PH, Steinmann B, Gelinas RE. Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human proα1(1) collagen allele. Proc Natl Acad Sci U S A 83:6045-6047, 1986.
10. Kretz KA, Carson GS, Morimoto S, Kishimoto Y, Fluharty AL, O'Brien JS. Characterization of a mutation in a family with saposin B deficiency: A glycosylation site defect. Proc Natl Acad Sci U S A 87:2541-2544, 1990.
11. Leroy JG, Demars RI. Mutant enzymatic and cytological phenotypes in cultured human fibroblasts. Science 157:804-806, 1967.
12. Kornfeld S, Sly WS. I-Cell disease and pseudo-Hurler polydystrophy: Disorders of lysosomal enzyme phosphorylation and localization. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Eds. The Metabolic and Molecular Basis of Inherited Disease (7th ed). New York: McGraw-Hill, Vol 2:pp2495-2508, 1995.
13. Hickman S, Neufeld EF. A hypothesis for I-cell disease: Defective hydrolases that do not enter lysosomes. Biochem Biophys Res Commun 49:992-999, 1972.
14. Natowicz MR, Chi MM-Y, Lowry OH, Sly WS. Enzymatic identification of mannose-6-phosphate on the recognition marker for receptor mediated pinocytosis of β-glucuronidase by human fibroblasts. Proc Natl Acad Sci U S A 74:4322-4326, 1979.
15. Waheed A, Hasilik A, von Figura K. Processing of the phosphorylated recognition marker in lysosomal enzymes. J Biol Chem 256:5717-5721, 1981.
16. Reitman ML, Varki A, Kornfeld S. Fibroblasts from patients with I-cell disease and pseudo-Hurler polydystrophy are deficient in uridine 5′-diphosphate-N-acetylglucosamine: Glycoprotein N-acetylglucosaminylphosphotransferase activity. J Clin Invest 67:1574-1579, 1981.
17. Mueller OT, Wasmuth JJ, Murray JC, Lozzio CB, Lovrien EW, Shows TB. Chromosomal assignment of N-acetylglucosaminylphosphotransferase, the lysosomal hydrolase targeting enzyme deficient in mucolipidosis II and III. Cytogenet Cell Genet 46:664, 1987.
18. Barriocanal JG, Bonifacino JS, Yuan L, Sandoval IV. Biosynthesis, glycosylation, movement through the Golgi system, and transport to lysosomes by an N-linked carbohydrate-independent mechanism of three lysosomal integral membrane proteins. J Biol Chem 261:16755-16763, 1986.
19. Barton NW, Brady RO, Dambrosia JM, Di Bisceglie AM, Doppelt SH, Hill SC, Mankin HJ, Murray GJ, Parker RI, Argoff CE, Grewal RP, Yu K-T. Replacement therapy for inherited enzyme deficiency - macrophage targeted glucocerebrosidase for Gaucher's disease. N Engl J Med 324:1464-1470, 1991.
20. Jaeken J, van Eijk HG, van der Heul C, Corbeel L, Eeckels R, Eggermont E. Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome. Clin Chim Acta 144:245-247, 1984.
21. Eeg-Olofsson KE, Wahlstrom J. Genetic and epidemiological aspects of the carbohydrate-deficient glycoprotein syndrome. Acta Paediatr Scand Suppl 375:63-65, 1991.
22. Krasnewich DM, Gahl WA. Carbohydrate-deficient Glycoprotein Syndrome. Adv Pediatr, 1996, in press.
23. Stibler H, Jaeken J, Kristiansson B. Biochemical characteristics and diagnosis of the carbohydrate-deficient glycoprotein syndrome. Acta Paediatr Scand Suppl 375:21-31, 1991.
24. Krasnewich DM, Holt GD, Brantly M, Skovby F, Redwine J, Gahl WA. Abnormal synthesis of dolichol-linked oligosaccharides in carbohydrate-deficient glycoprotein syndrome. Glycobiology 5:503-510, 1995.
25. Powell LD, Paneerselvam K, Vij R, Diaz S, Manzi A, Buist N, Freeze H, Varki A. Carbohydrate-deficient glycoprotein syndrome: Not an N-linked oligosaccharide processing defect, but an abnormality in lipid-linked oligosaccharide biosynthesis? J Clin Invest 94:1901-1909, 1994.
26. Panneerselvam K, Freeze HH. Mannose corrects altered N-glycosylation in carbohydrate-deficient glycoprotein syndrome fibroblasts. J Clin Invest 97:1478-1487, 1996.
27. Van Schaftingen E, Jaeken J. Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I. FEBS Letters 377:318-320, 1995.
28. Martinsson T, Bjursell C, Stibler H, Kristiansson B, Skovby F, Jaecken J, Blennow G, Stromme P, Hanefeld F, Wahlstrom J. Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDGI) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406. Hum Mol Genet 3:2037-2042, 1994.
29. De Zegher F, Jaeken J. Endocrinology of the carbohydrate-deficient glycoprotein syndrome type I from birth through adolescence. Pediatr Res 37:395-401, 1995.
30. Clayton P, Winchester B, Di Tomaso E, Young E, Keir G, Rodeck C. Carbohydrate-deficient glycoprotein syndrome: Normal glycosylation in the fetus. Lancet 341:956, 1993.
31. Stibler H, Skovby F. Failure to diagnose carbohydrate-deficient glycoprotein syndrome prenatally. Pediatr Neurol 11:71, 1994.
32. Ramaekers VT, Stibler H, Kint J, Jaeken J. A new variant of the carbohydrate-deficient glycoprotein syndrome. J Inherit Metab Dis 14:385-388, 1991.
33. Jaeken J, Schachter H, Carchon H, De Cock P, Coddeville B, Spik G. Carbohydrate-deficient glycoprotein syndrome type II: A deficiency in Golgi localized N-acetyl-glucosaminyltransferase II. Arch Dis Child 71:123-127, 1994.
34. Tan J, D'Agostaro GAF, Bendiak BK, Squire J, Schachter H. Molecular cloning and localization to chromosome 14 of the human UDP-N-acetylglucosamine: α-6-D-mannoside β-1,2-N-acetylglucosaminyl-transferase II gene (MGAT2). Glycoconj J 10:232-233, 1993.
35. Fukuda MN, Dell A, Scartezzini P. Primary defect of congenital dyserythropoietic anemia type II: Failure in glycosylation of erythrocyte lactosaminoglycan proteins caused by lowered N-acetylglucosaminyltransferase II. J Biol Chem 262:7195-7206, 1987.
36. Stibler H, Westerberg B, Hanefeld F, Hagberg B. Carbohydrate-deficient glycoprotein (CDG) syndrome - A new variant, type III. Neuropediatrics 24:51-52, 1993.
37. Stibler H, Stephani U, Kutsch U. Carbohydrate-deficient glycoprotein syndrome - A fourth subtype. Neuropediatrics 26:235-237, 1995.
38. Verwilghen RL, Lewis SM, Dacie JV, Crookston MC. HEMPAS: congenital dyserythropoietic anaemia (type II). Q J Med 42:257-278, 1973.
39. Fukuda MN, Papayannopoulou T, Gordon-Smith EC, Rochant H, Testa U. Defect in glycosylation of erythrocyte membrane proteins in congenital dyserythropoietic anaemia type II (HEMPAS). Br J Haemat 56:55-68, 1984.
40. Fukuda MN, Masri KA, Dell A, Luzzatto L, Moremen KW. Incomplete synthesis of N-glycans in congenital dyserythropoietic anemia type II caused by a defect in the gene encoding α-mannosidase II. Proc Natl Acad Sci U S A 87:7443-7447, 1990.
41. Fukuda MN. Congenital dyserythropoietic anaemia type II (HEMPAS) and its molecular basis. Bailliere's Clin Haemat 6:493-511, 1993.
42. x isozyme. Proc Natl Acad Sci U S A 92:11766-11770, 1995.
43. Fukuda MN, Gaetani GF, Izzo P, Scartezzini P, Dell A. Incompletely processed N-glycans of serum glycoproteins in congenital dyserythropoietic anaemia type II (HEMPAS). Br J Haemat 82:745-752, 1992.
44. Charuk JH, Tan J, Bernardini M, Haddad S, Reithmeier RA, Jaeken J, Schachter H. 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 230:797-805, 1995.
45. Spielberg SP, Garrick MD, Corash LM, Butler JD, Tietze F, Gorgers LV, Schulman JD. Biochemical heterogeneity in glutathione synthetase deficiency. J Clin Invest 61:1417-1420, 1978.
46. Capasso JM, Hirschberg CB. Mechanisms of glycosylation and sulfation in the Golgi apparatus: evidence for nucleotide sugar/nucleoside monophosphate and nucleotide sulfate/nucleoside monophosphate antiports in the Golgi apparatus membrane. Proc Natl Acad Sci U S A 81:7051-7055, 1984.
47. Kornfeld S, Kornfeld R, Neufeld EF, O'Brien PJ. The feedback control of sugar nucleotide biosynthesis in liver. Proc Natl Acad Sci U S A 52:371-379, 1964.
48. Segal S, Berry GT. Disorders of galactose metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Eds. The Metabolic and Molecular Basis of Inherited Disease (7th ed). New York: McGraw-Hill, Vol 1:pp967-1000, 1995.
49. Reichardt JKV, Berg P. Cloning and characterization of a cDNA encoding human galactose-1-phosphate uridyltransferase. Mol Biol Med 7:107-122, 1988.
50. Kaufman FR, Xu YK, Ng WG, Donnell GN. Correlation of ovarian function with galactose-1-phosphate uridyl transferase levels in galactosemia. J Pediatr 112:754-756, 1988.
51. Holton JB, de la Cruz F, Levy HL. Galactosemia: The uridine diphosphate galactose deficiency - Uridine treatment controversy. J Pediatr 123:1009-1014, 1993.
52. Ornstein KS, McGuire EJ, Berry GT, Roth S, Segal S. Abnormal galactosylation of complex carbohydrates in cultured fibroblasts from patients with galactose-1-phosphate uridyltransferase deficiency. Pediatr Res 31:508-511, 1992.
53. Dobbie JA, Holton JB, Clamp JR. Defective galactosylation of proteins in cultured skin fibroblasts from galactosemic patients. Ann Clin Biochem 27:274-275, 1990.
54. Jaeken J, Kint J, Spaapen L. Serum lysosomal enzyme abnormalities in galactosemia. Lancet 340:1472-1473, 1992.
55. Thotakura NR, Blithe DR. Glycoprotein hormones: Glycobiology of gonadotropins, thyrotropin and free alpha subunit. Glycobiology 5:3-10, 1995.
56. Aittomaki K, Lucena JLD, Pakarinen P, Sistonen P, Tapanainen J, Gromoll J, Kaskikari R, Sankila E-M, Lehvaslaiho H, Engel AR, Nieschlag E, Huhtaniemi I, de la Chapelle A. Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell 82:959-968, 1995.
57. Kingsley DM, Kozarsky KF, Hobbie L, Krieger M. Reversible defects in O-linked glycosylation and LDL receptor expression in a UDP-gal/ UDP-galNAc 4-epimerase deficient mutant. Cell 44:749-759, 1986.
58. Daude N, Gallaher TK, Zeschnigk M, Starzinski-Powitz A, Petry KG, Haworth IS, Reichardt JK. Molecular cloning, characterization, and mapping of a full-length cDNA encoding human UDP-galactose 4-epimerase. Biochem Mol Med 56:1-7, 1995.
59. Holton JB, Gillett MG, MacFaul R, Young R. Galactosemia: A new severe variant due to uridine diphosphate galactose-4-epimerase deficiency. Arch Dis Child 56:885-887, 1981.
60. Sardharwalla IB, Wraith JE, Bridge C, Fowler B, Roberts SA. A patient with severe type of epimerase deficiency galactosemia. J Inherit Metab Dis 11(Suppl 2):249-251, 1988.
61. Kingsley DM, Krieger M, Holton JB. Structure and function of low-density-lipoprotein receptors in epimerase-deficient galactosemia. N Engl J Med 314:1257-1258, 1993.
62. Bevilacqua MP, Nelson RM. Selectins. J Clin Invest 91:379-387, 1993.
63. Frydman M, Etzioni A, Eidlitz-Marlois T, Avidor I, Varsano I, Shechter Y, Orlin JB, Gershoni-Baruch R. Rambam-Hasharon syndrome of psychomotor retardation, short stature, defective neutrophil motility, and Bombay phenotype. Am J Med Genet 44:297-302, 1992.
64. Anderson DC, Kishimoto TK, Smith CW. Leukocyte adhesion deficiency and other disorders of leukocyte adherence and motility. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Eds. The Metabolic and Molecular Basis of Inherited Disease (7th ed). New York: McGraw-Hill, Vol 3:pp3955-3994, 1995.
65. von Adrian UH, Berger EM, Ramezani L, Chambers JD, Ochs HD, Harlan JM, Paulson JC, Etzioni A, Arfors KE. In vivo behavior of neutrophils from two patients with distinct inherited leukocyte adhesion deficiency syndromes. J Clin Invest 91:2893-2897, 1993.
66. Roden L. Structure and metabolism of connective tissue proteoglycans. In: Lennarz WJ, Ed. The Biochemistry of Glycoproteins and Proteoglycans. New York: Plenum, pp267-371, 1980.
67. Lipmann F. Biological sulfate activation and transfer. Science 128:575-580, 1958.
68. Hart GW, Lennarz WJ. Effects of tunicamycin on the biosynthesis of glycosaminoglycans by embryonic chick cornea. J Biol Chem 253:5795-5801, 1978.
69. Carson DD. Proteoglycans in development. In: Fukuda M, Ed. Cell Surface Carbohydrates any Cell Development. Boca Raton, FL: CRC Press, pp258-283, 1992.
70. Kresse H, Rosthoj S, Quentin E, Hollmann J, Glossl J, Okada S, Tonnesen T. Glycosaminoglycan-free small proteoglycan core protein is secreted by fibroblasts from a patient with a syndrome resembling progeroid. Am J Hum Genet 41:436-453, 1987.
71. Quentin E, Gladen A, Roden L, Kresse H. A genetic defect in the biosynthesis of dermatan sulfate proteoglycan: galactosyltransferase I deficiency in fibroblasts from a patient with a progeroid syndrome. Proc Natl Acad Sci U S A 87:1342-1346, 1990.
72. Beavan LA, Quentin-Hoffmann E, Schonherr E, Snigula F, Leroy JG, Kresse H. Deficient expression of decorin in infantile progeroid patients. J Biol Chem 268:9856-9862, 1993.
73. Rimoin DL, Lachman RS. The chondrodysplasias. In: Emery AH, Rimoin DL, Eds. Principles and Practice of Medical Genetics (2nd ed). Edinburgh: Churchill Livingstone, pp895-932, 1990.
74. Superti-Furga A. A defect in the metabolic activation of sulfate in a patient with achondrogenesis type IB. Am J Hum Genet 55:1137-1145, 1994.
75. Hastbacka J, de la Chapelle A, Mahtani MM, Clines G, Reeve-Daly MP, Daly M, Hamilton BA, Kusumi K, Trivedi B, Weaver A, Coloma A, Lovett M, Buckler A, Kaitila I, Lander ES. The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure linkage disequilibrium mapping. Cell 78:1073-1087, 1994.
76. Superti-Furga A, Hastbacka J, Wilcox W, Cohn DH, van der Harten HJ, Rossi A, Blau N, Rimoin DL, Steinmann B, Lander ES, Gitzelmann R. Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. Nat Genet 12:100-102, 1996.
77. Hastbacka J, Superti-Furga A, Wilcox W, Rimoin DL, Cohn DH, Lander ES. Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): Evidence for a phenotypic series involving three chondrodysplasias. Am J Hum Genet 58:255-262, 1996.
78. Sugar J. Defects of the cornea. In: Emery AH, Rimoin DL, Eds. Principles and Practice of Medical Genetics (2nd ed). Edinburgh: Churchill Livingstone, pp655-667, 1990.
79. Vance JM, Jonasson F, Lennon F, Sarrica J, Damji KF, Stauffer J, Pericak-Vance MA, Klintworth GK. Linkage of a gene for macular corneal dystrophy to chromosome 16. Am J Hum Genet 58:757-762, 1996.
80. Nakazawa K, Hassell JR, Hascall VC, Lohmander LS, Newsome DA, Krachmer J. Defective processing of keratan sulfate in macular corneal dystrophy. J Biol Chem 259:13751-13757, 1984.
81. Sugumaran G, Katsman M, Drake RR. Purification, photoaffinity labeling, and characterization of a single enzyme for 6-sulfation of both chondroitin sulfate and keratan sulfate. J Biol Chem 270:22483-22487, 1995.
82. Toledo SPA, Mourao PAS, Lamego C, Alves CAR, Dietrich CP, Assis LM, Mattar E. Recessively inherited, late onset spondylar dysplasia and peripheral corneal opacity with anomalies in urinary mucopolysaccharides: a possible error of chondroitin-6-sulfate synthesis. Am J Med Genet 2:385-395, 1978.
83. Mourao PAS, Kato S, Donnelly PV. Spondyloepiphyseal dysplasia, chondroitin sulfate type: A possible defect of PAPS-chondroitin sulfate sulfotransferase in humans. Biochem Biophys Res Commun 98:388-396, 1981.
84. Muramatsu T. Carbohydrate signals in metastasis and prognosis of human carcinomas. Glycobiology 3:294-296, 1993.
85. Furukawa K, Matsuta K, Takeuchi F, Kosuge E, Miyamoto T, Kobata A. Kinetic study of a galactosyltransferase in the B cells of patients with rheumatoid arthritis. Int Immunol 2:105-112, 1990.
86. Stibler H, Borg S, Joustra M. Micro anion exchange chromatography of carbohydrate-deficient transferrin in serum in relation to alcohol consumption (Swedish patent 8400587-5). Alcohol Clin Exp Res 10:535-544, 1986.
87. Block TM, Lu X, Platt FM, Foster GR, Gerlich WH, Blumberg BS, Dwek RA, Secretion of human hepatitis B virus is inhibited by the imino sugar N-butyldeoxynojirimycin. Proc Natl Acad Sci U S A 91:2235-2239, 1994.
88. Karlsson GB, Butters TD, Dwek RA, Platt FM. Effects of the imino sugar N-butyldeoxynojirimycin on the N-glycosylation of recombinant gp120. J Biol Chem 268:570-576, 1993.
89. Platt FM, Neises GR, Dwek RA, Butters TD. N-Butyldeoxynojirimycin is a novel inhibitor of glycolipid biosynthesis. J Biol Chem 269:8362-8365, 1994.