Article

XBP1s-Mediated ER Proteostasis Network Enhancement Can Selectively Improve the Folding and Secretion of an Osteogenesis Imperfecta-Causing Collagen-I Variant

2021-04-16

Abstract excerpt

<h4>ABSTRACT</h4> Osteogenesis imperfecta (OI) is typically caused by autosomal dominant mutations in genes encoding collagen type-I, most commonly resulting in Gly→Ser triple-helical domain substitutions that disrupt collagen folding and/or stability. Here, we test the hypothesis that upregulating the endoplasmic reticulum (ER) proteo-stasis network via the unfolded protein response (UPR) can improve the folding...

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Literature Corpus work: b141310f-a5dd-5a45-8732-d486eb635590
DOI: 10.1101/2021.04.15.439909

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