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

Brian Joseph, Kelly A. Marshall, Peter Harley, Jacob R. Mann, Francesco Alessandrini, Carlos G. Vanoye, Wanhao Chi, Mercedes Prudencio, Dina Simkin, Tzu‐Ting Kao, Reshma R. Desai, Matthew J. Keuss, Simone Barattucci, Matteo Zanovello, Puja R. Mehta, Jean-Marc DeKeyser, Francesco Limone, Jonathan Lee, Anna‐Leigh Brown, Marcel F. Leyton-Jaimes, Leslie A. Nash, Irune Guerra San Juan, Eleonora Aronica, Brian J. Wainger, Mala M. Shah, Anand Goswami, Neil A. Shneider, Dennis W. Dickson, Juan Burrone, Chaolin Zhang, Hynek Wichterle, Leonard Petrucelli, Jonathan K. Watts, Alfred L. George, Pietro Fratta, Kevin Eggan, Evangelos Kiskinis

2025Nature Neuroscience14 citationsDOIOpen Access PDF

Topics & Concepts

NeuroscienceFrontotemporal dementiaAmyotrophic lateral sclerosisInduced pluripotent stem cellMotor neuronSpinal cordPremovement neuronal activityBiologyChemistryNeuronNeurodegenerationTARDBPRNA splicingSodium channelAmyloid precursor proteinCellular neurosciencePotassium channelCell biologyEndoplasmic reticulumAlternative splicingCerebral cortexMicrostimulationNeurotrophinIon channelMotor cortexSomaAmyotrophic Lateral Sclerosis ResearchRNA Research and SplicingGenetic Neurodegenerative Diseases
TDP-43-dependent mis-splicing of KCNQ2 triggers intrinsic neuronal hyperexcitability in ALS/FTD | Litcius