Grant: Project Grant

All cells including nerve cells in the brain are highly compartmentalized, and proteins move between the compartments in small membrane bound transport carriers. This process called membrane trafficking controls the levels of proteins and allows the proteins to function at their proper cellular location. Membrane trafficking is highly regulated and alterations in proteins that control membrane trafficking are a feature of many human diseases including neurodegenerative disorders. We have identified an exciting new link between a protein that regulates membrane trafficking and a rare but devastating neurological disease involving profound intellectual impairment coupled to epilepsy. The studies described in this proposal will provide new insight into how alterations in membrane trafficking lead to neurological disease.