AGAP1-associated endolysosomal trafficking abnormalities link gene-environment interactions in a neurodevelopmental disorder with incomplete penetrance
Sara A. Lewis, Somayeh Bakhtiari, Jacob Forstrom, Allan Bayat, Frédéric Bilan, Gwenaël Le Guyader, Ebba Alkhunaizi, Hilary J. Vernon, Sergio R. Padilla-Lopez, Michael C. Kruer
The paper describes three patients with AGAP1 deletion variants and uses a Drosophila model to identify endolysosomal trafficking defects and stress response abnormalities linked to neurodevelopmental disorders.
Disease Models & Mechanisms · Jul 20, 2023Peer-reviewedGenetics