Branchpoints as potential targets of exon-skipping therapies for genetic disorders

Fukutin (FKTN) c.647+2084G>T creates a pseudo-exon with a premature stop codon, which causes Fukuyama congenital muscular dystrophy (FCMD). We aimed to ameliorate aberrant splicing of FKTN caused by this variant. We screened compounds focusing on splicing regulation using the c.647+2084G>T spl...

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Detalles Bibliográficos
Autores principales: Ohara, Hiroaki, Hosokawa, Motoyasu, Awaya, Tomonari, Hagiwara, Atsuko, Kurosawa, Ryo, Sako, Yukiya, Ogawa, Megumu, Ogasawara, Masashi, Noguchi, Satoru, Goto, Yuichi, Takahashi, Ryosuke, Nishino, Ichizo, Hagiwara, Masatoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society of Gene & Cell Therapy 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10403725/
https://www.ncbi.nlm.nih.gov/pubmed/37547287
http://dx.doi.org/10.1016/j.omtn.2023.07.011

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10403725/
https://www.ncbi.nlm.nih.gov/pubmed/37547287
http://dx.doi.org/10.1016/j.omtn.2023.07.011

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