A centronuclear myopathy-causing mutation in dynamin-2 disrupts neuronal morphology and excitatory synaptic transmission in a murine model of the disease.

Jorge Arriagada-Diaz,Carolina Flores-Muñoz,Bárbara Gómez-Soto,Marjorie Labraña-Allende,Michelle Mattar-Araos,Lorena Prado-Vega,Fernando Hinostroza,Ivana Gajardo,María José Guerra-Fernández,Jorge A Bevilacqua,Ana M Cárdenas,Marc Bitoun,Alvaro O Ardiles,Arlek M Gonzalez-Jamett

Neuropathology and applied neurobiology（2023）

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摘要

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.

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关键词

centronuclear myopathy, dendritic arborisation, dendritic spines, dynamin-2, neuronal morphology, synaptic transmission

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