Debra Abramov from the Burré Lab has received a NRSA F30 fellowship from the NICHD, to investigate how Munc18-1 mutations disrupt syntaxin-5 stability and general secretory trafficking.
Despite a known genetic cause, no effective treatments exist for Munc18-1 related disorders, which cause intractable epilepsy, severe intellectual disability, and other severe neurologic symptoms in children. The aim of my proposal is to investigate the non-synaptic neuronal deficits that are caused by...