Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia
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DOI: 10.1038/s41467-021-24705-5
Abstract: Approximately half of genetic disease-associated mutations cause aberrant splicing. However, a widely applicable therapeutic strategy to splicing diseases is yet to be developed. Here, we analyze the mechanism whereby IKBKAP-familial dysautonomia (FD) exon 20 inclusion… read more here.
Keywords: therapeutic manipulation; small molecule; familial dysautonomia; manipulation ikbkap ... See more keywords