title: Defect in N-glycosylation of proteins is tissue-dependent in congenital disorders of glycosylation Ia.
abstract: The biochemical hallmark of Congenital Disorders of Glycosylation (CDG) including type Ia is a defective N-glycosylation of serum glycoproteins. Hypoglycosylated forms of alpha1-antitrypsin have been detected by Western blot in serum from CDG Ia patients. In contrast we were not able to detect hypoglycosylation in alpha1-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.
authors.affiliation: Biochimie A, Hôpital Bichat, 75877 Paris cedex 18, France.
authors.forename: T
authors.initials: T
authors.lastname: Dupré
authors.forename: A
authors.initials: A
authors.lastname: Barnier
authors.forename: P
authors.initials: P
authors.lastname: de Lonlay
authors.forename: V
authors.initials: V
authors.lastname: Cormier-Daire
authors.forename: G
authors.initials: G
authors.lastname: Durand
authors.forename: P
authors.initials: P
authors.lastname: Codogno
authors.forename: N
authors.initials: N
authors.lastname: Seta
mesh_terms: D015153:Blotting, Western; D002239:Carbohydrate Metabolism, Inborn Errors / Q000378:metabolism*; D006031:Glycosylation; D006801:Humans; D007074:Immunoglobulin G / Q000378:metabolism; D007525:Isoelectric Focusing
chemical_list: D007074:Immunoglobulin G