Collagen misfolding mutations: the contribution of the unfolded protein response to the molecular pathology.

ABSTRACT: Mutations in collagen genes cause a broad range of connective tissue pathologies. Structural mutations that impact procollagen assembly or triple helix formation and stability are a common and important mutation class. How misfolded procollagens engage with the cellular proteostasis machinery and whether they can elicit a cytotoxic unfolded protein response (UPR) is a topic of considerable research interest. Such interest is well justified since modulating the UPR could offer a new approach to treat collagenopathies for which there are no current disease mechanism-targeting therapies. This review scrutinizes the evidence underpinning the view that endoplasmic reticulum stress and chronic UPR activation contributes significantly to the pathophysiology of the collagenopathies. While there is

SUBMITTER: Bateman JF 

PROVIDER: S-EPMC8977234 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature