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Cryptic splicing in synaptic and membrane excitability genes links TDP-43 loss to neuronal dysfunction.

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Title: Cryptic splicing in synaptic and membrane excitability genes links TDP-43 loss to neuronal dysfunction.
Authors: Guo C; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA., Chen K; F.M. Kirby Neurobiology Center, Boston Children's Hospital, and Department of Neurobiology, Harvard Medical School, Boston, MA 02115, USA., Vatsavayai S; Memory and Aging Center, Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.; Department of Pathology, University of California, San Francisco, San Francisco, CA 94158, USA., Akiyama T; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA., Liu C; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA., Zeng Y; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA., Sianto O; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA., Yang E; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA., Bombosch J; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA., Powell R; F.M. Kirby Neurobiology Center, Boston Children's Hospital, and Department of Neurobiology, Harvard Medical School, Boston, MA 02115, USA., Zhen S; F.M. Kirby Neurobiology Center, Boston Children's Hospital, and Department of Neurobiology, Harvard Medical School, Boston, MA 02115, USA., Mekhoubad S; Trace Neuroscience, South San Francisco, CA 94080, USA., Morrie RD; Trace Neuroscience, South San Francisco, CA 94080, USA., Miller G; Trace Neuroscience, South San Francisco, CA 94080, USA., Ilic D; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin 13125, Germany., Boll M; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin 13125, Germany., Parnell E; Department of Neuroscience, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.; Northwestern University Center for Autism and Neurodevelopment, Chicago, IL 60611, USA., Penzes P; Department of Neuroscience, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.; Northwestern University Center for Autism and Neurodevelopment, Chicago, IL 60611, USA.; Department of Psychiatry and Behavioral Sciences, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA., Lipstein N; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin 13125, Germany., Green EM; Trace Neuroscience, South San Francisco, CA 94080, USA., Petrucelli L; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.; Neurobiology of Disease Graduate Program, Mayo Graduate School, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.; Department of Neurology, Miller School of Medicine, University of Miami, Miami, FL 33136, USA., Seeley WW; Memory and Aging Center, Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.; Department of Pathology, University of California, San Francisco, San Francisco, CA 94158, USA., Gitler AD; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.; Biohub - San Francisco, San Francisco, CA 94158, USA.; Phil and Penny Knight Initiative for Brain Resilience, Stanford University, Stanford, CA 94305, USA.
Source: Science translational medicine [Sci Transl Med] 2026 Jun 03; Vol. 18 (852), pp. eaeb8517. Date of Electronic Publication: 2026 Jun 03.
Publication Type: Journal Article
Journal Info: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101505086 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1946-6242 (Electronic) Linking ISSN: 19466234 NLM ISO Abbreviation: Sci Transl Med Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Cryptic splicing in synaptic and membrane excitability genes links TDP-43 loss to neuronal dysfunction.
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  Data: <searchLink fieldCode="AU" term="%22Guo+C%22">Guo C</searchLink>; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.<br /><searchLink fieldCode="AU" term="%22Chen+K%22">Chen K</searchLink>; F.M. Kirby Neurobiology Center, Boston Children's Hospital, and Department of Neurobiology, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Vatsavayai+S%22">Vatsavayai S</searchLink>; Memory and Aging Center, Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.; Department of Pathology, University of California, San Francisco, San Francisco, CA 94158, USA.<br /><searchLink fieldCode="AU" term="%22Akiyama+T%22">Akiyama T</searchLink>; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.<br /><searchLink fieldCode="AU" term="%22Liu+C%22">Liu C</searchLink>; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.<br /><searchLink fieldCode="AU" term="%22Zeng+Y%22">Zeng Y</searchLink>; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.<br /><searchLink fieldCode="AU" term="%22Sianto+O%22">Sianto O</searchLink>; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.<br /><searchLink fieldCode="AU" term="%22Yang+E%22">Yang E</searchLink>; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.<br /><searchLink fieldCode="AU" term="%22Bombosch+J%22">Bombosch J</searchLink>; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.<br /><searchLink fieldCode="AU" term="%22Powell+R%22">Powell R</searchLink>; F.M. Kirby Neurobiology Center, Boston Children's Hospital, and Department of Neurobiology, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Zhen+S%22">Zhen S</searchLink>; F.M. Kirby Neurobiology Center, Boston Children's Hospital, and Department of Neurobiology, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Mekhoubad+S%22">Mekhoubad S</searchLink>; Trace Neuroscience, South San Francisco, CA 94080, USA.<br /><searchLink fieldCode="AU" term="%22Morrie+RD%22">Morrie RD</searchLink>; Trace Neuroscience, South San Francisco, CA 94080, USA.<br /><searchLink fieldCode="AU" term="%22Miller+G%22">Miller G</searchLink>; Trace Neuroscience, South San Francisco, CA 94080, USA.<br /><searchLink fieldCode="AU" term="%22Ilic+D%22">Ilic D</searchLink>; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin 13125, Germany.<br /><searchLink fieldCode="AU" term="%22Boll+M%22">Boll M</searchLink>; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin 13125, Germany.<br /><searchLink fieldCode="AU" term="%22Parnell+E%22">Parnell E</searchLink>; Department of Neuroscience, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.; Northwestern University Center for Autism and Neurodevelopment, Chicago, IL 60611, USA.<br /><searchLink fieldCode="AU" term="%22Penzes+P%22">Penzes P</searchLink>; Department of Neuroscience, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.; Northwestern University Center for Autism and Neurodevelopment, Chicago, IL 60611, USA.; Department of Psychiatry and Behavioral Sciences, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.<br /><searchLink fieldCode="AU" term="%22Lipstein+N%22">Lipstein N</searchLink>; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin 13125, Germany.<br /><searchLink fieldCode="AU" term="%22Green+EM%22">Green EM</searchLink>; Trace Neuroscience, South San Francisco, CA 94080, USA.<br /><searchLink fieldCode="AU" term="%22Petrucelli+L%22">Petrucelli L</searchLink>; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.; Neurobiology of Disease Graduate Program, Mayo Graduate School, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.; Department of Neurology, Miller School of Medicine, University of Miami, Miami, FL 33136, USA.<br /><searchLink fieldCode="AU" term="%22Seeley+WW%22">Seeley WW</searchLink>; Memory and Aging Center, Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.; Department of Pathology, University of California, San Francisco, San Francisco, CA 94158, USA.<br /><searchLink fieldCode="AU" term="%22Gitler+AD%22">Gitler AD</searchLink>; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.; Biohub - San Francisco, San Francisco, CA 94158, USA.; Phil and Penny Knight Initiative for Brain Resilience, Stanford University, Stanford, CA 94305, USA.
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  Data: <searchLink fieldCode="JN" term="%22101505086%22">Science translational medicine</searchLink> [Sci Transl Med] 2026 Jun 03; Vol. 18 (852), pp. eaeb8517. <i>Date of Electronic Publication: </i>2026 Jun 03.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22American+Association+for+the+Advancement+of+Science%22">American Association for the Advancement of Science </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101505086 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1946-6242 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2219466234%22">19466234 </searchLink><i>NLM ISO Abbreviation: </i>Sci Transl Med <i>Subsets: </i>MEDLINE
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