Use of Endoglycosidase H as a diagnostic tool for MAN1B1-CDG patients

Congenital disorders of glycosylation (CDG) are heterogeneous group of genetic protein and lipid glycosylation abnormalities. With some 33 reported patients, MAN1B1-CDG belongs to the more frequent causes of CDG-II. MAN1B1 encodes an α1,2-mannosidase that removes the terminal mannose residue from the middle branch. Several methods have been proposed to characterize the glycosylation changes. In MAN1B1-CDG, the abnormal accumulating N-glycan structures are mostly absent or found in trace amounts in total human serum. To overcome this issue, in this study, we present a straightforward procedure based on the use of Endo-β-N-acetylglucosaminidase H to easily diagnose MAN1B1-CDG patients and mannosidase defects.status: publishe

Use of Endoglycosidase H as a diagnostic tool for MAN1B1‐CDG patients

International audienc

Fetal bovine serum impacts the observed N‐glycosylation defects in TMEM165 KO HEK cells

International audienc