Nature Communications (Jul 2021)
Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia
Abstract
Familial dysautonomia is caused by splicing mutation of IKBKAP gene, which induces skipping of exon 20 and subsequent functional loss. Here, the authors report that a synthetic splice modulator RECTAS ameliorates pathogenic exon 20 skipping and shows therapeutic effects in cellular and animal models.