Depdc5 knockdown causes mTOR-dependent motor hyperactivity in zebrafish.

ABSTRACT:

Objective

DEPDC5 was identified as a major genetic cause of focal epilepsy with deleterious mutations found in a wide range of inherited forms of focal epilepsy, associated with malformation of cortical development in certain cases. Identification of frameshift, truncation, and deletion mutations implicates haploinsufficiency of DEPDC5 in the etiology of focal epilepsy. DEPDC5 is a component of the GATOR1 complex, acting as a negative regulator of mTOR signaling.

Methods

Zebrafish represents a vertebrate model suitable for genetic analysis and drug screening in epilepsy-related disorders. In this study, we defined the expression of depdc5 during development and established an epilepsy model with reduced Depdc5 expression.

Results

Here we report a

SUBMITTER: de Calbiac H 

PROVIDER: S-EPMC5945968 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature