A zebrafish model of congenital disorders of glycosylation with phosphomannose isomerase deficiency reveals an early opportunity for corrective mannose supplementation

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 C...

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Main Authors: Chu, Jaime, Mir, Alexander, Gao, Ningguo, Rosa, Sabrina, Monson, Christopher, Sharma, Vandana, Steet, Richard, Freeze, Hudson H., Lehrman, Mark A., Sadler, Kirsten C.
Format: Artigo
Sprog:Inglês
Udgivet: The Company of Biologists Limited 2013
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3529342/
https://ncbi.nlm.nih.gov/pubmed/22899857
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/dmm.010116
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