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Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia
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 is specifically promoted by a...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8302731/ https://www.ncbi.nlm.nih.gov/pubmed/34301951 http://dx.doi.org/10.1038/s41467-021-24705-5 |