Depdc5 knockdown causes mTOR-dependent motor hyperactivity in zebrafish.

Hortense De CalbiacAdriana DabacanElise MarsanHervé TostivintGabrielle DevienneSaeko IshidaEric LeguernStephanie BaulacRaul C MuresanEdor Kabashi Sorana Ciura

Published in: Annals of clinical and translational neurology (2018)

This study demonstrates that Depdc5 knockdown leads to early-onset phenotypic features related to motor and neuronal hyperactivity. Restoration of phenotypic features by WT but not epilepsy-associated Depdc5 mutants, as well as by mTORC1 inhibition confirm the role of Depdc5 in the mTORC1-dependent molecular cascades, defining this pathway as a potential therapeutic target for DEPDC5-inherited forms of focal epilepsy.

Keyphrases

early onset
late onset
cell proliferation
risk assessment
human health