Article
A zebrafish model of congenital disorders of glycosylation with phosphomannose isomerase deficiency reveals an early opportunity for corrective mannose supplementation.
Disease models & mechanisms - 1 Jan 2013
Chu Jaime, Mir Alexander, Gao Ningguo, Rosa Sabrina, Monson Christopher, Sharma Vandana, Steet Richard, Freeze Hudson H, Lehrman Mark A, Sadler Kirsten C
Abstract excerpt
Individuals with congenital disorders of glycosylation (CDG) have recessive mutations in genes required for protein N-glycosylation, resulting in multi-systemic disease. Despite the well-characterized biochemical consequences in these individuals, the underlying cellular defects that contribute to CDG are not well understood. Synthesis of the lipid-linked oligosaccharide (LLO), which serves as the sugar donor for...
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