Ontology highlight
ABSTRACT:
SUBMITTER: Davis PE
PROVIDER: S-EPMC4489948 | biostudies-literature | 2015 Jul
REPOSITORIES: biostudies-literature
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics 20150701 3
Tuberous sclerosis complex (TSC) is a genetic disorder with a high prevalence of autism spectrum disorder (ASD). Tremendous progress in understanding the pathogenesis of TSC has been made in recent years, along with initial trials of medical treatment aimed specifically at the underlying mechanism of the disorder. At the cellular level, loss of TSC1 or TSC2 results in upregulation of the mechanistic target of rapamycin (mTOR) pathway. At the circuitry level, TSC and mTOR play crucial roles in ax ...[more]