Altered glycan structures: the molecular basis of congenital disorders of glycosylation.

Abstract:

:Congenital disorders of glycosylation (CDG) are a group of diseases that affect glycoprotein biogenesis. Eighteen different types of CDG have been defined genetically. They result from deficiencies in either the biosynthesis of oligosaccharide precursors or specific steps of N-glycan assembly, resulting in the absence or structural alteration of N-glycan chains. These diseases have a broad range of clinical phenotypes and affect nearly every organ system, with special emphasis on normal brain development and the multiple functions of the nervous, hepatic, gastrointestinal and immune systems. Although most of the deficiencies observed in CDG patients are only partial, the severity of the clinical manifestations signifies the relevance of protein N-glycosylation and shows the importance of defined glycan structures.

journal_name

Curr Opin Struct Biol

authors

Freeze HH,Aebi M

doi

10.1016/j.sbi.2005.08.010

subject

Has Abstract

pub_date

2005-10-01 00:00:00

pages

490-8

issue

5

eissn

0959-440X

issn

1879-033X

pii

S0959-440X(05)00158-2

journal_volume

15

pub_type

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