DEPDC5 as a potential therapeutic target for epilepsy
Kenneth A Myers, Ingrid E Scheffer
EXPERT OPINION ON THERAPEUTIC TARGETS | TAYLOR & FRANCIS LTD | Published : 2017
INTRODUCTION: Dishevelled, Egl-10 and Pleckstrin (DEP) domain-containing protein 5 (DEPDC5) is a protein subunit of the GTPase-activating proteins towards Rags 1 (GATOR1) complex. GATOR1 is a recently identified modulator of mechanistic target of rapamycin (mTOR) activity. mTOR is a key regulator of cell proliferation and metabolism; disruption of the mTOR pathway is implicated in focal epilepsy, both acquired and genetic. Tuberous sclerosis is the prototypic mTOR genetic syndrome with epilepsy, however GATOR1 gene mutations have recently been shown to cause lesional and non-lesional focal epilepsy. Areas covered: This review summarizes the mTOR pathway, including regulators and downstream e..View full abstract
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Awarded by NHMRC
K. A. Myers receives funding from a Citizens United for Research in Epilepsy Taking Flight Award. I. E. Scheffer is funded by an NHMRC Program Grant (628952) and holds an NHMRC Practitioner Fellowship (1006110).