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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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Pubblicato in:PLoS Genet
Autori principali: Piróg, Katarzyna A., Dennis, Ella P., Hartley, Claire L., Jackson, Robert M., Soul, Jamie, Schwartz, Jean-Marc, Bateman, John F., Boot-Handford, Raymond P., Briggs, Michael D.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2019
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6625722/
https://ncbi.nlm.nih.gov/pubmed/31260448
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1008215
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