Diseases of glycosylation beyond classical congenital disorders of glycosylation

• Published in: Biochimica et biophysica acta Vol. 1820; no. 9; pp. 1306 - 1317
• Main Author: Hennet, Thierry
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 01.09.2012
• Subjects: Animals; biosynthesis; blood serum; Carbohydrate Metabolism, Inborn Errors - classification; Carbohydrate Metabolism, Inborn Errors - epidemiology; Carbohydrate Metabolism, Inborn Errors - genetics; Carbohydrate Sequence; Congenital Disorders of Glycosylation - classification; Congenital Disorders of Glycosylation - epidemiology; Congenital Disorders of Glycosylation - genetics; defects; Disease; genes; genetic disorders; Glycolipid; Glycoprotein; glycosaminoglycans; Glycosylation; Glycosyltransferase; glycosyltransferases; Humans; isoelectric focusing; Models, Biological; Molecular Sequence Data; Mutation; phenotype; sequence analysis; transferrin; transporters; Dol; GPI; Disease; Glycosyltransferase; Dol-P-Man; CDG; Glycoprotein; Sia; Glycosylation; PNH; GAG; LLO; Glycolipid; ERAD; OST; CDGS; Man; Mutation

Diseases of glycosylation are rare inherited disorders, which are often referred to as congenital disorders of glycosylation (CDG). Several types of CDG have been described in the last decades, encompassing defects of nucleotide-sugar biosynthesis, nucleotide-sugar transporters, glycosyltransferases...