Epigenetic Modification of the FMR1 Gene in Fragile X Syndrome Is Associated with Differential Response to the mGluR5 Antagonist AFQ056

Jacquemont, Sébastien; Curie, Aurore; des Portes, Vincent; Giulia Torrioli, Maria; Berry‐Kravis, Elizabeth; J. Hagerman, Randi; J. Ramos, Feliciano; Cornish, Kim; He, Yunsheng; Paulding, Charles; Neri, Giovanni; Chen, Fei; Hadjikhani, Nouchine; Martinet, Danielle; Meyer, Joanne; Beckmann, J.; Karine, Delange; Amandine, Brun; Bussy, Gérald; Gasparini, F.; Hilse, Talita; Floesser, Annette; Branson, Janice; Bilbe, Graeme; R. Johns, Donald; Gomez‐Mancilla, Baltazar

doi:10.1126/scitranslmed.3001708

Public

Epigenetic Modification of the FMR1 Gene in Fragile X Syndrome Is Associated with Differential Response to the mGluR5 Antagonist AFQ056

Published in Science Translational Medicine • Jan 5, 2011

Authors:

Sébastien Jacquemont

Aurore Curie

Vincent des Portes

Abstract

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 ...

Subject

Fragile X syndrome

Metabotropic glutamate receptor 5

FMR1

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