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Article

ER procollagen storage defect without coupled unfolded protein response drives precocious arthritis.

Life science alliance - 1 Sept 2024

Yammine Kathryn M, Mirda Abularach Sophia, Kim Seo-Yeon, Bikovtseva Agata A, Lilianty Jinia, Butty Vincent L, Schiavoni Richard P, Bateman John F, Lamandé Shireen R, Shoulders Matthew D

Abstract excerpt

Collagenopathies are a group of clinically diverse disorders caused by defects in collagen folding and secretion. For example, mutations in the gene encoding collagen type-II, the primary collagen in cartilage, can lead to diverse chondrodysplasias. One example is the Gly1170Ser substitution in procollagen-II, which causes precocious osteoarthritis. Here, we biochemically and mechanistically characterize an...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38981683
DOI: 10.26508/lsa.202402842
PMCID: PMC11234256

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