Article
The intellectual disability protein RAB39B selectively regulates GluA2 trafficking to determine synaptic AMPAR composition.
Nature communications - 18 Mar 2015
Mignogna Maria Lidia, Giannandrea Maila, Gurgone Antonia, Fanelli Francesca, Raimondi Francesco, Mapelli Lisa, Bassani Silvia, Fang Huaqiang, Van Anken Eelco, Alessio Massimo, Passafaro Maria, Gatti Silvia, Esteban José A, Huganir Richard, D'Adamo Patrizia
Abstract excerpt
RAB39B is a member of the RAB family of small GTPases that controls intracellular vesicular trafficking in a compartment-specific manner. Mutations in the RAB39B gene cause intellectual disability comorbid with autism spectrum disorder and epilepsy, but the impact of RAB39B loss of function on synaptic activity is largely unexplained. Here we show that protein interacting with C-kinase 1 (PICK1) is a downstream...
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