Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia

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...

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Autores principales:	Masahiko Ajiro, Tomonari Awaya, Young Jin Kim, Kei Iida, Masatsugu Denawa, Nobuo Tanaka, Ryo Kurosawa, Shingo Matsushima, Saiko Shibata, Tetsunori Sakamoto, Rolenz Studer, Adrian R. Krainer, Masatoshi Hagiwara
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/41819a0db2e34aa3ab64cc45ca2565eb
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spelling	oai:doaj.org-article:41819a0db2e34aa3ab64cc45ca2565eb2021-12-02T16:43:31ZTherapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia10.1038/s41467-021-24705-52041-1723https://doaj.org/article/41819a0db2e34aa3ab64cc45ca2565eb2021-07-01T00:00:00Zhttps://doi.org/10.1038/s41467-021-24705-5https://doaj.org/toc/2041-1723Familial 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.Masahiko AjiroTomonari AwayaYoung Jin KimKei IidaMasatsugu DenawaNobuo TanakaRyo KurosawaShingo MatsushimaSaiko ShibataTetsunori SakamotoRolenz StuderAdrian R. KrainerMasatoshi HagiwaraNature PortfolioarticleScienceQENNature Communications, Vol 12, Iss 1, Pp 1-12 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Masahiko Ajiro Tomonari Awaya Young Jin Kim Kei Iida Masatsugu Denawa Nobuo Tanaka Ryo Kurosawa Shingo Matsushima Saiko Shibata Tetsunori Sakamoto Rolenz Studer Adrian R. Krainer Masatoshi Hagiwara Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia
description	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.
format	article
author	Masahiko Ajiro Tomonari Awaya Young Jin Kim Kei Iida Masatsugu Denawa Nobuo Tanaka Ryo Kurosawa Shingo Matsushima Saiko Shibata Tetsunori Sakamoto Rolenz Studer Adrian R. Krainer Masatoshi Hagiwara
author_facet	Masahiko Ajiro Tomonari Awaya Young Jin Kim Kei Iida Masatsugu Denawa Nobuo Tanaka Ryo Kurosawa Shingo Matsushima Saiko Shibata Tetsunori Sakamoto Rolenz Studer Adrian R. Krainer Masatoshi Hagiwara
author_sort	Masahiko Ajiro
title	Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia
title_short	Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia
title_full	Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia
title_fullStr	Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia
title_full_unstemmed	Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia
title_sort	therapeutic manipulation of ikbkap mis-splicing with a small molecule to cure familial dysautonomia
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/41819a0db2e34aa3ab64cc45ca2565eb
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Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia

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