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

S, Jacquemont; A, Curie; Portes V, des; MG, Torrioli; E, Berry-Kravis; RJ, Hagerman; FJ, Ramos; K, Cornish; Y, He; C, Paulding; G, Neri; F, Chen; N, Hadjikhani; D, Martinet; J, Meyer; JS, Beckmann; K, Delange; A, Brun; G, Bussy; F, Gasparini; T, Hilse; A, Floesser; J, Branson; G, Bilbe; D, Johns; B, Gomez-Mancilla

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.

Shared by NobleBlocks on Jan 1, 2011 • 12:00 AM UTC

Authors:

Jacquemont S

Curie A

des Portes V

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 ...

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