A centronuclear myopathy-causing mutation in dynamin-2 disrupts neuronal morphology and excitatory synaptic transmission in a murine model of the disease.
Jorge Arriagada-DiazCarolina Flores-MuñozBárbara Gómez-SotoMarjorie Labraña-AllendeMichelle Mattar-AraosLorena Prado-VegaFernando HinostrozaIvana GajardoMaría José Guerra-FernándezJorge A BevilacquaAna M CárdenasMarc BitounAlvaro O ArdilesArlek M González-JamettPublished in: Neuropathology and applied neurobiology (2023)
Our findings suggest that the Dnm2 p.R465W mutation perturbs the synaptic and cognitive function in a CNM mouse model and support the idea that Dnm2 plays a key role in regulating neuronal morphology and excitatory synaptic transmission in the hippocampus.