Publications

  • Wang HH*, Wang Z, Lin LL, Verma SK, Gniadzik S, Wang H, Li ZJ, Jiang L, Kuyumcu-Martinez MN, Sun S*, Qi L*. “Functional rescue of a disease-linked ERAD pathway mutation via alternative splicing.” EMBO Journal. 2026 Mar 20. 2026 May;45(9):3230-3251. (*Co-corresponding authors)

  • Wang HH, Biunno I, Sun S, Qi L. “SEL1L-HRD1-mediated ERAD in mammals.” (Review) Nat Cell Biol. 2025 Jul;27(7):1063-1073.  

  • Wang HH*, Lin LL*, Li JZ*, Wei X, Askander O, Cappuccio G, Hashem MO, Huber L, Munnich A, Alqahtani M, Pang Q, Burmeister M, Lu Y, Poirier K, Besmond C, Sun S, Brunetti-Pierri N, Alkuraya FS, Qi L. “Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders.” The Journal of Clinical Investigation. 2024 Jan 16;134(2):e170054. (*Co-first authors)

‍ ‍Highlighted in: Umphred-Wilson K, Adoro S. Hypomorphic human SEL1L and HRD1 variants uncouple multiplayered ER-associated degradation machinery. The Journal of Clinical Investigation. 2024 Jan 16;134(2):e175448.

‍ ‍Media coverage: Molecular Physiology and Biological Physics Researchers Identify Protein Variants Affecting Human Neurodevelopment. Medicine in Motion News (UVA). December 6,2023.

  • Weis D*, Lin LL*, Wang HH*, Li JZ, Kusikova K, Ciznar P, Wolf HM, Less-Piller A, Wang Z, Wei X, Weis S, Skalicka K, Hrckova G, Danisovic L, Soltysova A, Yang TT, Feichtinger R, Mayr HA, Qi L. “Biallelic Cys141Tyr Variant of SEL1L is associated with neurodevelopmental disorders, agammaglobulinemia, and premature death.” The Journal of Clinical Investigation. 2024 Jan 16;134(2):e170882.(*Co-first authors)

  • Wang H, Guo Y, Lu H, Luo Y3, Hu W, Liang W, Garcia-Barrio MT, Chang L, Schwendeman A, Zhang J, Chen YE. “Krüppel-like factor 14 deletion in myeloid cells accelerates atherosclerotic lesion development.” Cardiovascular Research. 2022 Jan 29;118(2):475-488.

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