Topic: cytosolic C-terminal fragment

Developmental and Epileptic Encephalopathy 9 (DEE9) is a debilitating neurological condition with no effective cure characterized by epilepsy, intellectual disability and autism. DEE9 is due to mutations in the X-chromosome gene PCDH19 that encodes protocadherin-19 (PCDH19), a cell adhesion molecule. We recently reported that PCDH19 undergoes an activity-dependent proteolytic cleavage that generates a cytosolic C-terminal fragment (CTF), which goes in the nucleus and regulates the expression of a subset of immediate early genes in primary hippocampal neurons.The aim of this project is to inves