Carbohydrate-deficient glycoprotein syndrome (CDGS)--glycosylation, folding and intracellular transport of newly synthesized glycoproteins.
Carbohydrate-deficient glycoprotein syndrome (CDGS) is a hereditary glycosylation disorder of unknown origin. In this study we used skin fibroblasts from patients with CDGS to study the glycosylation of three well characterized glycoproteins using gel mobility analysis, endoglycosidase treatments and protein folding studies. We show that glycoprotein transport along the secretory pathway was delayed. Dilation of the rough endoplasmic reticulum indicated a retention phenomenon for selected glycoproteins. However, for all examined glycoproteins cotranslational glycosylation in CDGS fibroblasts was normal.
Marquardt
T
T
Klinik und Poliklinik für Kinderheilkunde, Münster/Germany.
Ullrich
K
K
Zimmer
P
P
Hasilik
A
A
Deufel
T
T
Harms
E
E
D000015:Abnormalities, Multiple / Q000378:metabolism*; D001692:Biological Transport / Q000187:drug effects; D002239:Carbohydrate Metabolism, Inborn Errors / Q000378:metabolism*; D002648:Child; D004721:Endoplasmic Reticulum / Q000648:ultrastructure; D005260:Female; D005347:Fibroblasts / Q000648:ultrastructure; D006023:Glycoproteins / Q000378:metabolism*; D006031:Glycosylation; D019267:Hemagglutinin Glycoproteins, Influenza Virus; D006389:Hemagglutinins, Viral / Q000378:metabolism; D006596:Hexosaminidases / Q000494:pharmacology; D006801:Humans; D007223:Infant; D008297:Male; D017510:Protein Folding; D013577:Syndrome; D014759:Viral Envelope Proteins / Q000378:metabolism
D006023:Glycoproteins; D019267:Hemagglutinin Glycoproteins, Influenza Virus; D006389:Hemagglutinins, Viral; D014759:Viral Envelope Proteins; D006596:Hexosaminidases