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Congenital protein hypoglycosylation diseases

Authors Sparks S

Received 8 February 2012

Accepted for publication 12 April 2012

Published 5 July 2012 Volume 2012:5 Pages 43—54


Review by Single anonymous peer review

Peer reviewer comments 4

Susan E Sparks

Department 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, USA

Abstract: 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

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