Article

Targeted Reactivation of <i>FMR1</i> Transcription in Fragile X Syndrome Embryonic Stem Cells

2018-04-07

Abstract excerpt

<h4>ABSTRACT</h4> Fragile X Syndrome (FXS) is the most common inherited cause of intellectual disability and autism. It results from expansion of a CGG nucleotide repeat in the 5’ untranslated region of FMR1. Large expansions elicit repeat and promoter hyper-methylation, heterochromatin formation, FMR1 transcriptional silencing, and loss of the Fragile X protein, FMRP. Efforts aimed at correcting the sequelae r...

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Literature Corpus work: e94ac6b7-1081-5df3-898f-63d9eb8a3db0
DOI: 10.1101/286732

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