Abstract:Tuberous Sclerosis Complex (TSC) is an autosomal dominant disorder that results in intellectual disability and, in about 50% of patients, autism spectrum disorder. The protein products that are altered in TSC (TSC1 and TSC2) form a complex to inhibit the mammalian target of rapamycin (mTORC1) pathway. This pathway has been shown to affect the process of mRNA translation through its action on ribosomal protein S6 and 4-elongation binding protein 1. It is thought that mutations in the TSC proteins lead to upregu… Show more
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