Uncovering the molecular mechanism underlying PAK3 mutation pathogenicity in severe cases of intellectual disability: A multi-scale analysis from in vitro studies to knock-in mouse models
Manon Dobrigna, Sandrine Poëa-Guyon, Mathieu Legras, Serge Marty, Catherine Sébrié, Cyrille Vaillend, Glenn Dallerac, Roseline Poirier, Jean-Vianney Barnier · FENS Forum 2024
Neurodevelopmental disorders (NDDs), such as intellectual disability (ID), can arise from genetic and environmental factors. PAK3, a gene crucial for brain development and synaptic plasticity, is involved in X-linked ID. Mutations in the PAK3 gene may also lead to autistic traits, epilepsy and other neurological symptoms. The most severe cases result from missense mutations in the kinase domain, rendering the protein stable but inactive.Our aim is to understand the specific effects of severe PAK3 variants on brain structure and function and assess the precise mechanism underlying severe PAK3-l
ePoster · Neuroscience