pan- Glycosylation Mouse mAb

Glycosylation is the most important posttranslational modification occurring mainly in the cytosol, the endoplasmic reticulum, the Golgi apparatus and the sarcolemmal membrane. A rapidly growing family of genetic diseases is due to defects in protein N- and O-glycosylation, glycosylphosphatidylinositol glycosylation, and lipid glycosylation (congenital disorders of glycosylation (CDG)). Most CDG are severe, multisystem diseases with important neurological involvement. Some 76 CDG have been identified. Screening methods are limited to serum transferrin isoelectrofocusing (for protein N-glycosylation disorders with sialic acid deficiency) and serum apolipoprotein C-III isoelectrofocusing (for core 1 mucin-type O-glycosylation disorders). Whole exome/genome sequencing is increasingly used in the diagnostic work-up of patients with an unidentified CDG. Only one CDG is efficiently treatable namely MPI-CDG..