Article
The mGluR5 antagonist AFQ056 does not affect methylation and transcription of the mutant FMR1 gene in vitro.
BMC medical genetics - 7 Mar 2012
Tabolacci Elisabetta, Pirozzi Filomena, Gomez-Mancilla Baltazar, Gasparini Fabrizio, Neri Giovanni
Abstract excerpt
BACKGROUND: Fragile X syndrome (FXS), the leading cause of inherited mental retardation, is due to expansion and methylation of a CGG sequence in the FMR1 gene, which result in its silencing and consequent absence of FMRP protein. This absence causes loss of repression of metabotropic glutamate receptor 5 (mGluR5)-mediated pathways resulting in the behavioral and cognitive impairments associated with FXS. In a...
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