Article
The intellectual disability PAK3 R67C mutation impacts cognitive functions and adult hippocampal neurogenesis.
Human molecular genetics - 29 Jul 2020
Castillon Charlotte, Gonzalez Laurine, Domenichini Florence, Guyon Sandrine, Da Silva Kevin, Durand Christelle, Lestaevel Philippe, Vaillend Cyrille, Laroche Serge, Barnier Jean-Vianney, Poirier Roseline
Abstract excerpt
The link between mutations associated with intellectual disability (ID) and the mechanisms underlying cognitive dysfunctions remains largely unknown. Here, we focused on PAK3, a serine/threonine kinase whose gene mutations cause X-linked ID. We generated a new mutant mouse model bearing the missense R67C mutation of the Pak3 gene (Pak3-R67C), known to cause moderate to severe ID in humans without other clinical...
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