Hyperactive locomotion in a Drosophila model is a functional readout for the synaptic abnormalities underlying fragile X syndrome

@article{Kashima2017HyperactiveLI,
  title={Hyperactive locomotion in a Drosophila model is a functional readout for the synaptic abnormalities underlying fragile X syndrome},
  author={Risa Kashima and Patrick L Redmond and Prajakta Ghatpande and Sougata Roy and Thomas B Kornberg and Thomas Hanke and Stefan Knapp and Giorgio Lagna and Akiko Hata},
  journal={Science Signaling},
  year={2017},
  volume={10}
}
Fragile X syndrome (FXS) is the most common cause of heritable intellectual disability and autism and affects ~1 in 4000 males and 1 in 8000 females. The discovery of effective treatments for FXS has been hampered by the lack of effective animal models and phenotypic readouts for drug screening. FXS ensues from the epigenetic silencing or loss-of-function mutation of the fragile X mental retardation 1 (FMR1) gene, which encodes an RNA binding protein that associates with and represses the… CONTINUE READING

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