Article
A transgenic mouse expressing CHMP2Bintron5 mutant in neurons develops histological and behavioural features of amyotrophic lateral sclerosis and frontotemporal dementia.
Human molecular genetics - 1 Aug 2016
Vernay Aurélia, Therreau Ludivine, Blot Béatrice, Risson Valérie, Dirrig-Grosch Sylvie, Waegaert Robin, Lequeu Thiebault, Sellal François, Schaeffer Laurent, Sadoul Rémy, Loeffler Jean-Philippe, René Frédérique
Abstract excerpt
Mutations in the charged multivesicular body protein 2B (CHMP2B) are associated with frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), and with a mixed ALS-FTD syndrome. To model this syndrome, we generated a transgenic mouse line expressing the human CHMP2Bintron5 mutant in a neuron-specific manner. These mice developed a dose-dependent disease phenotype. A longitudinal study revealed...
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