Defect in N-glycosylation of proteins is tissue-dependent in congenital disorders of glycosylation Ia

被引：23

作者：

Dupré, T

Barnier, A

de Lonlay, P

Cormier-Daire, V

Durand, G

Codogno, P

Seta, N

机构：

[1] Hop Bichat Claude Bernard, Biochim Lab A, F-75877 Paris 18, France

[2] Hop Necker Enfants Malad, Serv Pediat & Malad Metab, INSERM, U393, F-75743 Paris, France

[3] Hop Necker Enfants Malad, Serv Genet Med, INSERM, U393, F-75743 Paris 15, France

[4] INSERM, U504, F-94807 Villejuif, France

[5] Univ Paris 11, Fac Pharm, F-92260 Chatenay Malabry, France

[6] Univ Paris 05, Fac Pharm, F-75270 Paris 06, France

来源：

GLYCOBIOLOGY | 2000年 / 10卷 / 12期

关键词：

alpha; 1-antitrypsin; CDG; GLUT-1; immunoglobulin G; protein glycosylation;

D O I：

10.1093/glycob/10.12.1277

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

The biochemical hallmark of Congenital Disorders of Glycosylation (CDG) including type Ia is a defective N-glycosylation of serum glycoproteins. Hypoglycosylated forms of al-antitrypsin have been detected by Western blot in serum from CDG Ia patients. In contrast we were not able to detect hypoglycosylation in al-antitrypsin synthesized by fibroblasts, keratinocytes, enterocytes, and leukocytes, Similarly no hypoglycosylation was detectable in a membrane-associated N-linked glycoprotein, the facilitative glucose transporter GLUT-1 and also in serum immunoglobulin G isolated from sera of CDG Ia patients, We conclude that the phenotypic expression of CDG Ia is tissue-dependent.

引用

页码：1277 / 1281

页数：5

共 31 条

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