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- W2035852054 abstract "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 suggests that loss of FMRP causes presynaptic dysfunction and abnormal adult neurogenesis. In addition, studies on FXS stem cells especially induced pluripotent stem (iPS) cells and new sequencing efforts hold out promise for deeper understanding of the silencing process and mutation spectrum of FMR1." @default.
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- W2035852054 date "2012-06-01" @default.
- W2035852054 modified "2023-10-12" @default.
- W2035852054 title "New perspectives on the biology of fragile X syndrome" @default.
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- W2035852054 doi "https://doi.org/10.1016/j.gde.2012.02.002" @default.
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