Functional rescue of a disease-linked ERAD pathway mutation via alternative splicing.
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| Title: | Functional rescue of a disease-linked ERAD pathway mutation via alternative splicing. |
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| Authors: | Wang HH; Department of Molecular Physiology and Biological Physics, University of Virginia School of Medicine, Charlottesville, VA, USA. kma8py@virginia.edu., Wang Z; Department of Molecular Physiology and Biological Physics, University of Virginia School of Medicine, Charlottesville, VA, USA., Lin LL; Department of Molecular Physiology and Biological Physics, University of Virginia School of Medicine, Charlottesville, VA, USA., Verma SK; Department of Molecular Physiology and Biological Physics, University of Virginia School of Medicine, Charlottesville, VA, USA., Gniadzik W; Department of Neuroscience, Center for Brain Immunology and Glia (BIG), University of Virginia School of Medicine, Charlottesville, VA, USA., Wang H; Department of Molecular Physiology and Biological Physics, University of Virginia School of Medicine, Charlottesville, VA, USA., Li ZJ; Department of Molecular Physiology and Biological Physics, University of Virginia School of Medicine, Charlottesville, VA, USA., Whitestone E; Department of Molecular Physiology and Biological Physics, University of Virginia School of Medicine, Charlottesville, VA, USA., Jiang L; Department of Neuroscience, Center for Brain Immunology and Glia (BIG), University of Virginia School of Medicine, Charlottesville, VA, USA., Kuyumcu-Martinez MN; Department of Molecular Physiology and Biological Physics, University of Virginia School of Medicine, Charlottesville, VA, USA.; Robert M. Berne Cardiovascular Research Center, University of Virginia School of Medicine, Charlottesville, VA, USA.; Center for RNA Science and Medicine, University of Virginia School of Medicine, Charlottesville, VA, USA.; Comprehensive Cancer Center, University of Virginia School of Medicine, Charlottesville, VA, USA., Sun S; Department of Pharmacology, University of Virginia School of Medicine, Charlottesville, VA, USA. bjk5fz@virginia.edu., Qi L; Department of Molecular Physiology and Biological Physics, University of Virginia School of Medicine, Charlottesville, VA, USA. xvr2hm@virginia.edu. |
| Source: | The EMBO journal [EMBO J] 2026 May; Vol. 45 (9), pp. 3230-3251. Date of Electronic Publication: 2026 Mar 20. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Nature Publishing Group Country of Publication: England NLM ID: 8208664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2075 (Electronic) Linking ISSN: 02614189 NLM ISO Abbreviation: EMBO J Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1460-2075 |
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| DOI: | 10.1038/s44318-026-00757-5 |
