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SEL1L-HRD1 endoplasmic reticulum-associated degradation controls STING-mediated innate immunity by limiting the size of the activable STING pool.
Ji Y, Luo Y, Wu Y, Sun Y, Zhao L, Xue Z, Sun M, Wei X, He Z, Wu SA, Lin LL, Lu Y, Chang L, Chen F, Chen S, Qian W, Xu X, Chen S, Pan D, Zhou Z, Xia S, Hu CA, Liang T, Qi L. Ji Y, et al. Among authors: lin ll. Nat Cell Biol. 2023 May;25(5):726-739. doi: 10.1038/s41556-023-01138-4. Epub 2023 May 4. Nat Cell Biol. 2023. PMID: 37142791 Free PMC article.
Endoplasmic reticulum-associated degradation is required for nephrin maturation and kidney glomerular filtration function.
Yoshida S, Wei X, Zhang G, O'Connor CL, Torres M, Zhou Z, Lin L, Menon R, Xu X, Zheng W, Xiong Y, Otto E, Tang CA, Hua R, Verma R, Mori H, Zhang Y, Hu CA, Liu M, Garg P, Hodgin JB, Sun S, Bitzer M, Qi L. Yoshida S, et al. J Clin Invest. 2021 Apr 1;131(7):e143988. doi: 10.1172/JCI143988. J Clin Invest. 2021. PMID: 33591954 Free PMC article.
Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders.
Wang HH, Lin LL, Li ZJ, Wei X, Askander O, Cappuccio G, Hashem MO, Hubert L, Munnich A, Alqahtani M, Pang Q, Burmeister M, Lu Y, Poirier K, Besmond C, Sun S, Brunetti-Pierri N, Alkuraya FS, Qi L. Wang HH, et al. Among authors: lin ll. J Clin Invest. 2024 Jan 16;134(2):e170054. doi: 10.1172/JCI170054. J Clin Invest. 2024. PMID: 37943610 Free PMC article.
Biallelic Cys141Tyr variant of SEL1L is associated with neurodevelopmental disorders, agammaglobulinemia, and premature death.
Weis D, Lin LL, Wang HH, Li ZJ, Kusikova K, Ciznar P, Wolf HM, Leiss-Piller A, Wang Z, Wei X, Weis S, Skalicka K, Hrckova G, Danisovic L, Soltysova A, Yang TT, Feichtinger RG, Mayr JA, Qi L. Weis D, et al. Among authors: lin ll. J Clin Invest. 2024 Jan 16;134(2):e170882. doi: 10.1172/JCI170882. J Clin Invest. 2024. PMID: 37943617 Free PMC article.
675 results