Increased intracellular proteolysis reduces disease severity in an ER stress–associated dwarfism

The short-limbed dwarfism metaphyseal chondrodysplasia type Schmid (MCDS) is linked to mutations in type X collagen, which increase ER stress by inducing misfolding of the mutant protein and subsequently disrupting hypertrophic chondrocyte differentiation. Here, we show that carbamazepine (CBZ), an...

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Detalles Bibliográficos
Autores principales: Mullan, Lorna A., Mularczyk, Ewa J., Kung, Louise H., Forouhan, Mitra, Wragg, Jordan M.A., Goodacre, Royston, Bateman, John F., Swanton, Eileithyia, Briggs, Michael D., Boot-Handford, Raymond P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2017
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5617653/
https://www.ncbi.nlm.nih.gov/pubmed/28920921
http://dx.doi.org/10.1172/JCI93094

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