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Glycosylation, Hypogammaglobulinemia, and Resistance to Viral Infections

9 Apr 2014

Abstract excerpt

Genetic defects in MOGS, the gene encoding mannosyl-oligosaccharide glucosidase (the first enzyme in the processing pathway of N-linked oligosaccharide), cause the rare congenital disorder of glycosylation type IIb (CDG-IIb), also known as MOGS-CDG. MOGS is expressed in the endoplasmic reticulum and is involved in the trimming of N-glycans. We evaluated two siblings with CDG-IIb who presented with multiple...

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PMID: 24716661
DOI: 10.1056/nejmoa1302846

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