Article
New perspectives on the biology of fragile X syndrome.
Current opinion in genetics & development - 1 Jun 2012
Wang Tao, Bray Steven M, Warren Stephen T
Abstract excerpt
Fragile X syndrome (FXS) is a trinucleotide repeat disorder caused by a CGG repeat expansion in FMR1, and loss of its protein product FMRP. Recent studies have provided increased support for the role of FMRP in translational repression via ribosomal stalling and the microRNA pathway. In neurons, particular focus has been placed on identifying the signaling pathways such as PI3K and mTOR downstream of group 1...
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