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- W346864321 startingPage "572" @default.
- W346864321 abstract "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 axonal, dendritic, and synaptic development and function. In this review, we discuss the molecular mechanism underlying TSC, and how this disease results in aberrant neural connectivity at multiple levels in the central nervous system, leading to ASD symptoms. We then review recent advances in mechanism-based treatments of TSC, and the promise that these treatments provide for future mechanism-based treatment of ASD. Because of these recent advances, TSC represents an ideal model for how to make progress in understanding and treating the mechanisms that underlie ASD in general." @default.
- W346864321 created "2016-06-24" @default.
- W346864321 creator A5008873914 @default.
- W346864321 creator A5018957554 @default.
- W346864321 creator A5077316104 @default.
- W346864321 creator A5079691093 @default.
- W346864321 date "2015-05-19" @default.
- W346864321 modified "2023-10-10" @default.
- W346864321 title "Tuberous Sclerosis: A New Frontier in Targeted Treatment of Autism" @default.
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