<i>SEC31A</i> mutation affects ER homeostasis, causing a neurological syndrome

Abstract

We demonstrate through human and <i>Drosophila</i> genetic and in vitro molecular studies, that a severe neurological syndrome is caused by a null mutation in <i>SEC31A</i>, reducing cell viability through enhanced ER-stress response, in line with SEC31A's role in the COP-II complex.