XBP1 signalling is essential for alleviating mutant protein aggregation in ER-stress related skeletal disease.

The unfolded protein response (UPR) is a conserved cellular response to the accumulation of proteinaceous material in endoplasmic reticulum (ER), active both in health and disease to alleviate cellular stress and improve protein folding. Multiple epiphyseal dysplasia (EDM5) is a genetic skeletal con...

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Bibliographic Details
Main Authors: Katarzyna A Piróg, Ella P Dennis, Claire L Hartley, Robert M Jackson, Jamie Soul, Jean-Marc Schwartz, John F Bateman, Raymond P Boot-Handford, Michael D Briggs
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2019-07-01
Series:PLoS Genetics
Online Access:https://doi.org/10.1371/journal.pgen.1008215