| Literature DB >> 21115397 |
Dan Ehninger1, Alcino J Silva.
Abstract
Tuberous sclerosis (TSC) is a genetic disorder caused by heterozygous mutations in the TSC1 or TSC2 genes and is associated with autism spectrum disorders (ASD) in 20-60% of cases. In addition, altered TSC/mTOR signaling is emerging as a feature common to a subset of ASD. Recent findings, in animal models, show that restoration of the underlying molecular defect can improve neurological dysfunction in several of these models, even if treatment is initiated in adult animals, suggesting that pathophysiological processes in the mature brain contribute significantly to the overall neurological phenotype in these models. These findings suggest that windows for therapeutic intervention in ASD could be wider than thought previously. Published by Elsevier Ltd.Entities:
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Year: 2010 PMID： 21115397 PMCID： PMC3075964 DOI： 10.1016/j.molmed.2010.10.002
Source DB: PubMed Journal: Trends Mol Med ISSN： 1471-4914 Impact factor: 11.951