Article
Activation of mTOR ameliorates fragile X premutation rCGG repeat-mediated neurodegeneration.
PloS one - 1 Jan 2013
Lin Yunting, Tang Chengyuan, He Hua, Duan Ranhui
Abstract excerpt
Fragile X associated tremor/ataxia syndrome (FXTAS) is a late onset neurodegenerative disorder caused by aberrant expansion of CGG repeats in 5' UTR of FMR1 gene. The elevated mRNA confers a toxic gain-of-function thought to be the critical event of pathogenesis. Expressing rCGG90 repeats of the human FMR1 5'UTR in Drosophila is sufficient to induce neurodegeneration. Rapamycin has been demonstrated to attenuate...
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