A zebrafish model of PMM2-CDG reveals altered neurogenesis and a substrate-accumulation mechanism for N-linked glycosylation deficiency

Congenital disorder of glycosylation (PMM2-CDG) results from mutations in pmm2, which encodes the phosphomannomutase (Pmm) that converts mannose-6-phosphate (M6P) to mannose-1-phosphate (M1P). Patients have wide-spectrum clinical abnormalities associated with impaired protein N-glycosylation. Althou...

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Autores principales: Cline, Abigail, Gao, Ningguo, Flanagan-Steet, Heather, Sharma, Vandana, Rosa, Sabrina, Sonon, Roberto, Azadi, Parastoo, Sadler, Kirsten C., Freeze, Hudson H., Lehrman, Mark A., Steet, Richard
Formato: Artigo
Lenguaje:Inglês
Publicado: The American Society for Cell Biology 2012
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Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3484097/
https://ncbi.nlm.nih.gov/pubmed/22956764
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1091/mbc.E12-05-0411
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