AbstractCongenital 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.
Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation
Human Molecular Genetics | June 1, 2018 | Volume: 27 | Issue: 17 | Pages: 3029-3045