From glycosylation disorders to dolichol biosynthesis defects: a new class of metabolic diseases

Congenital disorders of glycosylation: a

Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides

✍ Micha A. Haeuptle; Thierry Hennet 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 621 KB

Defects in the biosynthesis of the oligosaccharide precursor for N-glycosylation lead to decreased occupancy of glycosylation sites and thereby to diseases known as congenital disorders of glycosylation (CDG). In the last 20 years, approximately 1,000 CDG patients have been identified presenting wit