Diseases associated with N-glycosylation of proteins

Stable Identifier
Homo sapiens
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Congenital disorders of glycosylation (CDGs) are a group of autosomal recessive disorders caused by enzymatic defects in the synthesis and processing of asparagine (N)-linked glycans or oligosaccharides on glycoproteins. These glycoconjugates play critical roles in processes such as metabolism, cell recognition and adhesion, cell migration, protease resistance, host defense, and antigenicity. CDGs are divided into 2 main groups: type I CDGs comprise defects in the assembly of the dolichol lipid-linked oligosaccharide (LLO) chain and its transfer to the nascent protein, whereas type II CDGs comprise defects in the trimming and processing of protein-bound glycans (Marquardt & Denecke 2003, Grunewald et al. 2002, Hennet 2012, Cylwik et al. 2013).

Literature References
PubMed ID Title Journal Year
23730680 Congenital disorders of glycosylation. Part I. Defects of protein N-glycosylation

Chrostek, L, Naklicki, M, Cylwik, B, Gruszewska, E

Acta Biochim. Pol. 2013
12756558 Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies

Denecke, J, Marquardt, T

Eur. J. Pediatr. 2003
12409504 Congenital disorders of glycosylation: a review

Grunewald, S, Matthijs, G, Jaeken, J

Pediatr. Res. 2002
22343051 Diseases of glycosylation beyond classical congenital disorders of glycosylation

Hennet, T

Biochim. Biophys. Acta 2012
Name Identifier Synonyms
congenital disorder of glycosylation DOID:5212 carbohydrate-deficient glycoprotein syndrome
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