New perspectives on the biology of fragile X syndrome.

  title={New perspectives on the biology of fragile X syndrome.},
  author={Tao Wang and Steven M Bray and Stephen T Warren},
  journal={Current opinion in genetics & development},
  volume={22 3},
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 metabotropic glutamate receptors (mGluR1/5) that regulate FMRP. New evidence also… CONTINUE READING


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