DPAGT1-CDG: Functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress

Pathogenic mutations in DPAGT1 are manifested as two possible phenotypes: congenital disorder of glycosylation DPAGT1-CDG (also known as CDG-Ij), and limb-girdle congenital myasthenic syndrome (CMS) with tubular aggregates. UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosamine phosphotransf...

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Dades bibliogràfiques
Publicat a:PLoS One
Autors principals: Yuste-Checa, Patricia, Vega, Ana I., Martín-Higueras, Cristina, Medrano, Celia, Gámez, Alejandra, Desviat, Lourdes R., Ugarte, Magdalena, Pérez-Cerdá, Celia, Pérez, Belén
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2017
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5491010/
https://ncbi.nlm.nih.gov/pubmed/28662078
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0179456
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