Article

Partial FMRP expression is sufficient to normalize neuronal hyperactivity in Fragile X neurons

2019-04-13

Abstract excerpt

Fragile X Syndrome (FXS) is the most common genetic form of intellectual disability caused by a CGG repeat expansion in the 5’-UTR of the Fragile X mental retardation gene FMR1 , triggering epigenetic silencing and the subsequent absence of the protein, FMRP. Reactivation of FMR1 represents an attractive therapeutic strategy targeting the genetic root cause of FXS. However, largely missing in the FXS field is an...

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Literature Corpus work: e530ae06-4639-5993-8680-95c607fc96f5
DOI: 10.1101/608331

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