Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056.

@article{Jacquemont2011EpigeneticMO,
  title={Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056.},
  author={S{\'e}bastien Jacquemont and A. Curie and Vincent des Portes and Maria Giulia Torrioli and Elizabeth M. Berry-Kravis and Randi J. Hagerman and F. J. Hidalgo Ramos and Kim Cornish and Yunsheng He and Charles A Paulding and Giovanni Neri and Erwei Song and Nouchine Hadjikhani and Danielle Martinet and Joanne Meyer and Jacques S. Beckmann and Karine Delange and Amandine Le Brun and G{\'e}rald Bussy and Fabrizio Gasparini and Talita Hilse and Annette Floesser and Janice M Branson and Graeme Bilbe and Donald Johns and Baltazar Gomez-Mancilla},
  journal={Science translational medicine},
  year={2011},
  volume={3 64},
  pages={64ra1}
}
Fragile X syndrome (FXS) is an X-linked condition associated with intellectual disability and behavioral problems. It is caused by expansion of a CGG repeat in the 5' untranslated region of the fragile X mental retardation 1 (FMR1) gene. This mutation is associated with hypermethylation at the FMR1 promoter and resultant transcriptional silencing. FMR1 silencing has many consequences, including up-regulation of metabotropic glutamate receptor 5 (mGluR5)-mediated signaling. mGluR5 receptor… CONTINUE READING
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Epigenetic modification of the FMR 1 gene in fragile X syndrome is associated with differential response to the mGluR 5 antagonist AFQ 056

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