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TDP-43-dependent mis-splicing of KCNQ2 triggers intrinsic neuronal hyperexcitability in ALS/FTD.

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Title: TDP-43-dependent mis-splicing of KCNQ2 triggers intrinsic neuronal hyperexcitability in ALS/FTD.
Authors: Joseph BJ; Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA, USA.; Departments of Pathology & Cell Biology, Neuroscience, and Neurology, Columbia University Irving Medical Center, New York, NY, USA.; Departments of Systems Biology, Biochemistry and Molecular Biophysics, Columbia University, New York, NY, USA., Marshall KA; The Ken & Ruth Davee Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA., Harley P; UCL Queen Square Motor Neuron Disease Centre and Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, UK., Mann JR; The Ken & Ruth Davee Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA., Alessandrini F; The Ken & Ruth Davee Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA., Vanoye CG; Department of Pharmacology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA., Chi W; The Ken & Ruth Davee Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA., Prudencio M; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA., Simkin D; The Ken & Ruth Davee Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA., Kao TT; Department of Neurology, Center for Motor Neuron Biology and Disease, Eleanor and Lou Gehrig ALS Center, Columbia University, New York, NY, USA., Desai RR; Department of Pharmacology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA., Keuss MJ; UCL Queen Square Motor Neuron Disease Centre and Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, UK., Barattucci S; UCL Queen Square Motor Neuron Disease Centre and Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, UK., Zanovello M; UCL Queen Square Motor Neuron Disease Centre and Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, UK., Mehta PR; UCL Queen Square Motor Neuron Disease Centre and Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, UK., DeKeyser JM; Department of Pharmacology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA., Limone F; Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA, USA., Lee J; RNA Therapeutics Institute, UMass Chan Medical School, Worcester, MA, USA., Brown AL; UCL Queen Square Motor Neuron Disease Centre and Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, UK., Leyton-Jaimes MF; Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA, USA., Nash LA; Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA, USA., Juan IGS; Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA, USA., Aronica E; Amsterdam UMC, University of Amsterdam, Department of (Neuro)Pathology, Amsterdam Neuroscience, Amsterdam, The Netherlands., Wainger BJ; Department of Neurology, Mass General Brigham and Harvard Medical School, Boston, MA, USA., Shah M; UCL School of Pharmacy, University College London, London, UK., Goswami A; Department of Neurology, Center for Motor Neuron Biology and Disease, Eleanor and Lou Gehrig ALS Center, Columbia University, New York, NY, USA., Shneider NA; Department of Neurology, Center for Motor Neuron Biology and Disease, Eleanor and Lou Gehrig ALS Center, Columbia University, New York, NY, USA., Dickson DW; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA., Burrone J; Centre for Developmental Neurobiology, MRC Centre for Neurodevelopmental Disorders, Kings College London, London, UK., Zhang C; Departments of Systems Biology, Biochemistry and Molecular Biophysics, Columbia University, New York, NY, USA., Wichterle H; Departments of Pathology & Cell Biology, Neuroscience, and Neurology, Columbia University Irving Medical Center, New York, NY, USA., Petrucelli L; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA., Watts JK; RNA Therapeutics Institute, UMass Chan Medical School, Worcester, MA, USA., George AL Jr; Department of Pharmacology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA., Fratta P; UCL Queen Square Motor Neuron Disease Centre and Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, UK. p.fratta@ucl.ac.uk., Eggan K; Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA, USA. Kevin.Eggan@bmrn.com., Kiskinis E; The Ken & Ruth Davee Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA. evangelos.kiskinis@northwestern.edu.; Department of Neuroscience, Northwestern University Feinberg School of Medicine, Chicago, IL, USA. evangelos.kiskinis@northwestern.edu.
Source: Nature neuroscience [Nat Neurosci] 2025 Dec; Vol. 28 (12), pp. 2476-2492. Date of Electronic Publication: 2025 Oct 31.
Publication Type: Journal Article
Journal Info: Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 9809671 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1726 (Electronic) Linking ISSN: 10976256 NLM ISO Abbreviation: Nat Neurosci Subsets: MEDLINE
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  Data: TDP-43-dependent mis-splicing of KCNQ2 triggers intrinsic neuronal hyperexcitability in ALS/FTD.
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Department of Pharmacology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.<br /><searchLink fieldCode="AU" term="%22Limone+F%22">Limone F</searchLink>; Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Lee+J%22">Lee J</searchLink>; RNA Therapeutics Institute, UMass Chan Medical School, Worcester, MA, USA.<br /><searchLink fieldCode="AU" term="%22Brown+AL%22">Brown AL</searchLink>; UCL Queen Square Motor Neuron Disease Centre and Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Leyton-Jaimes+MF%22">Leyton-Jaimes MF</searchLink>; Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Nash+LA%22">Nash LA</searchLink>; Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Juan+IGS%22">Juan IGS</searchLink>; 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Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.<br /><searchLink fieldCode="AU" term="%22Burrone+J%22">Burrone J</searchLink>; Centre for Developmental Neurobiology, MRC Centre for Neurodevelopmental Disorders, Kings College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Zhang+C%22">Zhang C</searchLink>; Departments of Systems Biology, Biochemistry and Molecular Biophysics, Columbia University, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Wichterle+H%22">Wichterle H</searchLink>; Departments of Pathology & Cell Biology, Neuroscience, and Neurology, Columbia University Irving Medical Center, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Petrucelli+L%22">Petrucelli L</searchLink>; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.<br /><searchLink fieldCode="AU" term="%22Watts+JK%22">Watts JK</searchLink>; RNA Therapeutics Institute, UMass Chan Medical School, Worcester, MA, USA.<br /><searchLink fieldCode="AU" term="%22George+AL+Jr%22">George AL Jr</searchLink>; 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  Data: <searchLink fieldCode="JN" term="%229809671%22">Nature neuroscience</searchLink> [Nat Neurosci] 2025 Dec; Vol. 28 (12), pp. 2476-2492. <i>Date of Electronic Publication: </i>2025 Oct 31.
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