R01 AG089640/AG/NIA NIH HHS/United States[Grants and Funding] - Search Results

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SEL1L-HRD1 interaction is required to form a functional HRD1 ERAD complex.

Lin LL, Wang HH, Pederson B, Wei X, Torres M, Lu Y, Li ZJ, Liu X, Mao H, Wang H, Zhou LE, Zhao Z, Sun S, Qi L. Lin LL, et al. Nat Commun. 2024 Feb 16;15(1):1440. doi: 10.1038/s41467-024-45633-0. Nat Commun. 2024. PMID: 38365914 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. 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. J Clin Invest. 2024 Jan 16;134(2):e170882. doi: 10.1172/JCI170882. J Clin Invest. 2024. PMID: 37943617 Free PMC article.

Purkinje cell-specific deficiency in SEL1L-hrd1 endoplasmic reticulum-associated degradation causes progressive cerebellar ataxia in mice.

Torres M, Pederson B, Wang H, Lin LL, Wang HH, Bugarin-Lapuz A, Zhao Z, Qi L. Torres M, et al. JCI Insight. 2024 Nov 8;9(21):e174725. doi: 10.1172/jci.insight.174725. JCI Insight. 2024. PMID: 39352758 Free PMC article.

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