Protease-dependent defects in N-cadherin processing drive PMM2-CDG pathogenesis

The genetic bases for the congenital disorders of glycosylation (CDG) continue to expand, but how glycosylation defects cause patient phenotypes remains largely unknown. Here, we combined developmental phenotyping and biochemical studies in a potentially new zebrafish model (pmm2(sa10150)) of PMM2-C...

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Detalles Bibliográficos
Autores principales: Klaver, Elsenoor J., Dukes-Rimsky, Lynn, Kumar, Brijesh, Xia, Zhi-Jie, Dang, Tammie, Lehrman, Mark A., Angel, Peggi, Drake, Richard R., Freeze, Hudson H., Steet, Richard, Flanagan-Steet, Heather
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8783681/
https://www.ncbi.nlm.nih.gov/pubmed/34784297
http://dx.doi.org/10.1172/jci.insight.153474

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8783681/
https://www.ncbi.nlm.nih.gov/pubmed/34784297
http://dx.doi.org/10.1172/jci.insight.153474

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