Congenital protein hypoglycosylation diseases.
Ontology highlight
ABSTRACT:
SUBMITTER: Sparks SE
PROVIDER: S-EPMC3681192 | biostudies-other | 2012
REPOSITORIES: biostudies-other
Publications
Congenital protein hypoglycosylation diseases.
The application of clinical genetics 20120705
Glycosylation is an essential process by which sugars are attached to proteins and lipids. Complete lack of glycosylation is not compatible with life. Because of the widespread function of glycosylation, inherited disorders of glycosylation are multisystemic. Since the identification of the first defect on N-linked glycosylation in the 1980s, there are over 40 different congenital protein hypoglycosylation diseases. This review will include defects of N-linked glycosylation, O-linked glycosylati ...[more]
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