SEC31A mutation affects ER homeostasis, causing a neurological syndrome.
Daniel HalperinRotem KadirYonatan PerezMax DrabkinYuval YogevOhad WormserErez M BermanEkaterina EremenkoBarak RotblatZamir ShorerLibe GradsteinIlan ShelefRuth BirkUri AbduHagit FlusserOhad S BirkPublished in: Journal of medical genetics (2018)
We demonstrate through human and Drosophila genetic and in vitro molecular studies, that a severe neurological syndrome is caused by a null mutation in SEC31A, reducing cell viability through enhanced ER-stress response, in line with SEC31A's role in the COP-II complex.