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. 2001 Oct 15;359(Pt 2):249–254. doi: 10.1042/0264-6021:3590249

Congenital disorders of glycosylation type I leads to altered processing of N-linked glycans, as well as underglycosylation.

P Mills 1, K Mills 1, P Clayton 1, A Johnson 1, D Whitehouse 1, B Winchester 1
PMCID: PMC1222142  PMID: 11583570

Abstract

The N-linked glycans on transferrin and alpha(1)-antitrypsin from patients with congenital disorders of glycosylation type I have increased fucosylation and branching relative to normal controls. The elevated levels of monofucosylated biantennary glycans are probably due to increased alpha-(1-->6) fucosylation. The presence of bi- and trifucosylated triantennary and tetra-antennary glycans indicated that peripheral alpha-(1-->3), as well as core alpha-(1-->6), fucosylation is increased. Altered processing was observed on both the fully and underglycosylated glycoforms.

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Selected References

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