Congenital protein hypoglycosylation diseases

Susan E SparksDepartment of Pediatrics, Levine Children's Hospital at Carolinas Medical Center, Charlotte, NC, USA; Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, NC, USAAbstract: Glycosylation is an essential process by which sugars are attached...

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Bibliographic Details
Main Author: Sparks SE
Format: Article
Language:English
Published: Dove Medical Press 2012-07-01
Series:The Application of Clinical Genetics
Online Access:http://www.dovepress.com/congenital-protein-hypoglycosylation-diseases-a10305
Description
Summary:Susan E SparksDepartment of Pediatrics, Levine Children's Hospital at Carolinas Medical Center, Charlotte, NC, USA; Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, NC, USAAbstract: 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 glycosylation and disorders of combined N- and O-linked glycosylation.Keywords: congenital disorders of glycosylation, dystroglycanopathies, hypoglycosylation, glycoproteins
ISSN:1178-704X