A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl−/H+-Exchanger, Causes Early-Onset Neurodegeneration
Maya M. Polovitskaya, Carlo Barbini, Diego Martinelli, Frederike L. Harms, F. Sessions Cole, Paolo Calligari, Gianfranco Bocchinfuso, Lorenzo Stella, Andrea Ciolfi, Marcello Niceta, Teresa Rizza, Marwan Shinawi, Kathleen Sisco, Jessika Johannsen, Jonas Denecke, Rosalba Carrozzo, Daniel Wegner, Kerstin Kutsche, Marco Tartaglia, Thomas J. Jentsch
Topics & Concepts
NeurodegenerationMutationGain of functionEncoding (memory)Function (biology)GeneticsBiologyNeuroscienceMedicineInternal medicineGeneDiseaseNeuroscience and Neuropharmacology ResearchIon channel regulation and functionCalcium signaling and nucleotide metabolism