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Endoplasmic reticulum stress in amelogenesis imperfecta and phenotypic rescue using 4-phenylbutyrate

Inherited diseases caused by genetic mutations can arise due to loss of protein function. Alternatively, mutated proteins may mis-fold, impairing endoplasmic reticulum (ER) trafficking, causing ER stress and triggering the unfolded protein response (UPR). The UPR attempts to restore proteostasis but...

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Detalles Bibliográficos
Autores principales:	Brookes, Steven J., Barron, Martin J., Boot-Handford, Ray, Kirkham, Jennifer, Dixon, Michael J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2014
Materias:	Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3976337/ https://www.ncbi.nlm.nih.gov/pubmed/24362885 http://dx.doi.org/10.1093/hmg/ddt642

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