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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ISSN:1946-6242
DOI:10.1126/scitranslmed.aeb8517