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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Detalles Bibliográficos
Autores principales: Chu, Jaime, Mir, Alexander, Gao, Ningguo, Rosa, Sabrina, Monson, Christopher, Sharma, Vandana, Steet, Richard, Freeze, Hudson H., Lehrman, Mark A., Sadler, Kirsten C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Limited 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3529342/
https://www.ncbi.nlm.nih.gov/pubmed/22899857
http://dx.doi.org/10.1242/dmm.010116

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3529342/
https://www.ncbi.nlm.nih.gov/pubmed/22899857
http://dx.doi.org/10.1242/dmm.010116

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