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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.
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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  Data: Functional rescue of a disease-linked ERAD pathway mutation via alternative splicing.
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  Data: <searchLink fieldCode="AU" term="%22Wang+HH%22">Wang HH</searchLink>; Department of Molecular Physiology and Biological Physics, University of Virginia School of Medicine, Charlottesville, VA, USA. kma8py@virginia.edu.<br /><searchLink fieldCode="AU" term="%22Wang+Z%22">Wang Z</searchLink>; Department of Molecular Physiology and Biological Physics, University of Virginia School of Medicine, Charlottesville, VA, USA.<br /><searchLink fieldCode="AU" term="%22Lin+LL%22">Lin LL</searchLink>; Department of Molecular Physiology and Biological Physics, University of Virginia School of Medicine, Charlottesville, VA, USA.<br /><searchLink fieldCode="AU" term="%22Verma+SK%22">Verma SK</searchLink>; Department of Molecular Physiology and Biological Physics, University of Virginia School of Medicine, Charlottesville, VA, USA.<br /><searchLink fieldCode="AU" term="%22Gniadzik+W%22">Gniadzik W</searchLink>; Department of Neuroscience, Center for Brain Immunology and Glia (BIG), University of Virginia School of Medicine, Charlottesville, VA, USA.<br /><searchLink fieldCode="AU" term="%22Wang+H%22">Wang H</searchLink>; Department of Molecular Physiology and Biological Physics, University of Virginia School of Medicine, Charlottesville, VA, USA.<br /><searchLink fieldCode="AU" term="%22Li+ZJ%22">Li ZJ</searchLink>; Department of Molecular Physiology and Biological Physics, University of Virginia School of Medicine, Charlottesville, VA, USA.<br /><searchLink fieldCode="AU" term="%22Whitestone+E%22">Whitestone E</searchLink>; Department of Molecular Physiology and Biological Physics, University of Virginia School of Medicine, Charlottesville, VA, USA.<br /><searchLink fieldCode="AU" term="%22Jiang+L%22">Jiang L</searchLink>; Department of Neuroscience, Center for Brain Immunology and Glia (BIG), University of Virginia School of Medicine, Charlottesville, VA, USA.<br /><searchLink fieldCode="AU" term="%22Kuyumcu-Martinez+MN%22">Kuyumcu-Martinez MN</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Sun+S%22">Sun S</searchLink>; Department of Pharmacology, University of Virginia School of Medicine, Charlottesville, VA, USA. bjk5fz@virginia.edu.<br /><searchLink fieldCode="AU" term="%22Qi+L%22">Qi L</searchLink>; Department of Molecular Physiology and Biological Physics, University of Virginia School of Medicine, Charlottesville, VA, USA. xvr2hm@virginia.edu.
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  Data: <searchLink fieldCode="JN" term="%228208664%22">The EMBO journal</searchLink> [EMBO J] 2026 May; Vol. 45 (9), pp. 3230-3251. <i>Date of Electronic Publication: </i>2026 Mar 20.
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        Value: 10.1038/s44318-026-00757-5
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              Text: 2026 May
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