A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency

American Journal of Human Genetics

Volumn 66, Issue 6, 2000, Pages 1744-1756

  De Praeter, Claudine M ^a   Gerwig, Gerrit J ^c   Bause, Ernst ^d   Nuytinck, Lieve K ^a   Vliegenthart, Johannes F G ^c   Breuer, Wilhelm ^d   Kamerling, Johannis P ^c   Espeel, Marc F ^b   Martin, Jean Jacques R ^e   De Paepe, Anne M ^a   Chan, Nora Wen Chun ^f   Dacremont, Georges A ^a   Van Coster, Rudy N ^a  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b GHENT UNIVERSITY   (Belgium)

^c UTRECHT UNIVERSITY   (Netherlands)

^d UNIVERSITY OF BONN   (Germany)

^e UNIVERSITY OF ANTWERP   (Belgium)

^f UNIVERSITY OF ALBERTA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARAGINE LINKED OLIGOSACCHARIDE; GLUCOSIDASE;

ARTICLE; BIOSYNTHESIS; CASE REPORT; CHILD; DISEASE COURSE; ENDOPLASMIC RETICULUM; ENZYME DEFICIENCY; FEMALE; GLYCOSYLATION; HUMAN; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN PROCESSING; SKIN FIBROBLAST;

EID: 0033939884     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302948     Document Type: Article

References (45)

1. 9-mannosidase from pig liver involved in N-linked oligosaccharide processing. Eur J Biochem 208:451-457
2. Bause E, Burbach M (1996) Purification and enzymatic properties of endo-α 1,2 mannosidase from pig liver involved in oligosaccharide processing. Biol Chem 377:639-646
3. Bause E, Erkens R, Schweden J, Jaenicke L (1995) Purification and characterization of trimming glucosidase I from Saccharomyces cerevisiae. FEBS Lett 206:208-212
4. Bause E, Schweden J, Gross A, Orthen B (1989) Purification and characterization of trimming glucosidase I from pig liver. Eur J Biochem 183:661-669
5. Bramhall S, Noack N, Wu M, Loewenberg JR (1969) A simple colorimetric method for determination of protein. Anal Biochem 31:146-148
6. Ceuterick-de Groote C, Martin J-J (1998) Extracerebral biopsy in lysosomal and peroxisomal disorders: ultrastructural findings. Brain Pathol 8:121-132
7. De Cauwer H, Heytens L, Lubke U, Ceuterick C, Martin J-J (1997) Discordant light microscopic, electron microscopic, and in vitro contracture study findings in a family with central core disease. Clin Neuropathol 16:237-242
8. de Koning TJ, Dorland L, van Diggelen OP, Boonman AM, de Jong GJ, van Noort WL, De Schrijver J, et al (1998) A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency. Biochem Biophys Res Commun 245: 38-42
9. Etzioni A, Frydman M, Pollack S, Avidor I, Phillips ML, Paulson JC, Gershoni-Baruch R (1992) Recurrent severe infections caused by a novel leukocyte adhesion deficiency. N Engl J Med 327:1789-1792
10. Eyskens F, Ceuterick C, Martin J-J, Janssens G, Jaeken J (1994) Carbohydrate-deficient glycoprotein syndrome with previously unreported features. Acta Paediatr 83:892-896
11. Fujimoto K, Kornfeld R (1991) α-Glucosidase II-deficient cells use Endo α-Mannosidase as a bypass route for N-linked oligosaccharide processing. J Biol Chem 266:3571-3578
12. Fukuda MN (1990) HEMPAS disease: genetic defect of glycosylation. Glycobiology 1:9-15
13. Gerwig GJ, Kamerling JP, Vliegenthart JF, Morag E, Lamed R, Bayer EA (1993) The nature of the carbohydrate-peptide linkage region in glycoproteins from the cellulosomes of clostridium thermocellum and bacteroides cellulosolvens. J Biol Chem 268:26956-26960
14. Hård K, Vliegenthart JFG (1993) Nuclear magnetic resonance spectroscopy of glycoprotein-derived carbohydrate chains. In: Fukuda M, Kobata A (eds) Glycobiology, a practical approach. Oxford University Press, Oxford, pp 223-242
15. Hentges A, Bause E (1997) Affinity purification and characterization of glucosidase II from pig liver. Biol Chem 378: 1031-1038
16. 2. Biosci Rep 2:899-906
17. Hettkamp H, Legler G, Bause E (1984) Purification by affinity chromatography of glucosidase I, an endoplasmic reticulum hydrolase involved in the processing of asparagine-linked oligosaccharides. Eur J Biochem 142:85-90
18. Humbel R, Collart M (1975) Oligosaccharides in urine of patients with glycoprotein storage disease. 1. Rapid detection by thin-layer chromatography. Clin Chim Acta 60:143-145
19. Jaeken J, Schachter H, Carchon H, De Cock P, Coddeville B, Spik G (1994) Carbohydrate-deficient glycoprotein syndrome type II: a deficiency in Golgi-localised N-acetylglucosaminyltransferase II. Arch Dis Child 71:123-127
20. Kalz-Füller B, Bieberich E, Bause E (1995) Cloning and expression of glucosidase I from human hippocampus. Eur J Biochem 231:344-351
21. Kalz-Füller B, Heidrich-Kaul C, Nöthen M, Bause E, Schwanitz G (1996) Localization of the human glucosidase I gene to chromosome 2p12-p13 by fluorescence in situ hybridization and PCR analysis of somatic cell hybrids. Genomics 34: 442-443
22. Kamerling JP, Vliegenthart JFG (1989) Carbohydrates. In: Lawson AM (ed) Clinical biochemistry: principles, methods, applications. Vol 1. Walter de Gruyter, Berlin, pp 176-263
23. Keir G, Winchester BG, Clayton P (1999) Carbohydrate-deficient glycoprotein syndromes: inborn errors of protein glycosylation. Ann Clin Biochem 36:20-36
24. 2-PP-dolichyl glucosyltransferase. Proc Natl Acad Sci USA 95: 13200-13205
25. Kornfeld S (1998) Diseases of abnormal protein glycosylation: an emerging area. J Clin Invest 101:1293-1295
26. Laemmli UK (1970) Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 227: 680-685
27. Lowry OH, Rosebrough NJ, Farr AL, Randall RJ (1951) Protein determination by a modified Polin phenol method. J Biol Chem 193:265-275
28. Lubas WA, Spiro RG (1988) Evaluation of the role of rat liver golgi endo-α-D-mannosidase in processing N-linked oligosaccharides. J Biol Chem 263:3990-3998
29. Martin J-J (1995) Neuropathology of peroxisomal diseases. J Inher Metab Dis 18:19-33
30. Montreuil J, Vliegenthart JFG, Schachter H (eds) (1995) Glycoproteins: new comprehensive biochemistry. Vol 29a. Elsevier Science, Amsterdam
31. -(1996a) Glycoproteins II. New comprehensive biochemistry. Vol 29b. Elsevier Science, Amsterdam
32. -(1996b) Glycoproteins and diseases: new comprehensive biochemistry. Vol 30. Elsevier Science, Amsterdam
33. Moore SE, Spiro RG (1990) Demonstration that golgi endoα-D-mannosidase provides a glucosidase-independent pathway for the formation of complex N-linked oligosaccharides of glycoproteins. J Biol Chem 265:13104-13112
34. Ogawa T, Yamamoto H, Nukada T, Kitajima T, Sugimoto M (1984) Synthetic approach to glycan chains of a glycoprotein and a proteoglycan. Pure Appl Chem 56:779-795
35. Philipps MJ, Lathan PS, Poucell-Hatton S (1993) Electron microscopy of human liver diseases. In: Schiff L, Schiff ER (eds) Diseases of the liver. Lippincott Company, Philadelphia, pp 189-215
36. Reitman ML, Varki A, Kornfeld S (1981) Fibroblasts from patients with I-cell disease and pseudo-Hurler polydystrophy are deficient in uridine 5′-diphosphate-N-acetylglucosamine: glycoprotein N-acetylglucosaminyl phosphotransferase activity. J Clin Invest 67:1574-1579
37. Roels F, De Prest B, De Pestel G (1995) Liver and chorion cytochemistry. J Inher Metab Dis 18 Suppl: 155-171
38. 1H-NMR spectroscopic identification of the glucose-containing lipid-linked precursor oligosaccharide of N-linked carbohydrate chains. Glycoconj J 4:247-254
39. Rosse WF (1997) Paroxysmal nocturnal haemoglobinuria as a molecular disease. Medicine 76:63-93
40. 3 for use in the assay of α-glucosidase I activity. Carbohydr Res 296:203-213
41. Schailubhai K, Pratta M, Vijay I (1987) Purification and characterization of glucosidase I involved in N-linked glycoprotein processing in bovine mammary gland. Biochem J 247: 555-562
42. Schweden J, Borgmann C, Legler G, Bause E (1986a) Characterization of calf liver glucosidase I and its inhibition by basic sugar analogs. Arch Biochem Biophys 248:335-340
43. 2 oligosaccharides. Eur J Biochem 157:563-570
44. Van Schaftingen E, Jaeken J (1995) Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome. FEBS Lett 377:318-320
45. 1H-nuclear magnetic resonance spectroscopy as a tool in the structural analysis of carbohydrates related to glycoproteins. Adv Carbohydr Chem Biochem 41:209-374