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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Bibliografische gegevens
Hoofdauteurs: Chu, Jaime, Mir, Alexander, Gao, Ningguo, Rosa, Sabrina, Monson, Christopher, Sharma, Vandana, Steet, Richard, Freeze, Hudson H., Lehrman, Mark A., Sadler, Kirsten C.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: The Company of Biologists Limited 2013
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Research Article
Online toegang: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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