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ER procollagen storage defect without coupled unfolded protein response drives precocious arthritis.
Yammine KM, Abularach SM, Kim SY, Bikovtseva AA, Lilianty J, Butty VL, Schiavoni RP, Bateman JF, Lamandé SR, Shoulders MD. Yammine KM, et al. bioRxiv [Preprint]. 2024 Mar 9:2023.10.19.562780. doi: 10.1101/2023.10.19.562780. bioRxiv. 2024. Update in: Life Sci Alliance. 2024 Jul 9;7(9):e202402842. doi: 10.26508/lsa.202402842 PMID: 37905055 Free PMC article. Updated. Preprint.
Human cartilage model of the precocious osteoarthritis-inducing COL2A1 p.Arg719Cys reveals pathology-driving matrix defects and a failure of the ER proteostasis network to recognize the defective procollagen-II.
Yammine KM, Abularach SM, Xiong M, Kim SY, Bikovtseva AA, Butty VL, Schiavoni RP, Bateman JF, Lamandé SR, Shoulders MD. Yammine KM, et al. bioRxiv [Preprint]. 2024 Nov 9:2024.11.07.622468. doi: 10.1101/2024.11.07.622468. bioRxiv. 2024. PMID: 39574595 Free PMC article. Preprint.