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 splicing...

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Bibliografiske detaljer

Principais autores:	Hiroaki Ohara, Motoyasu Hosokawa, Tomonari Awaya, Atsuko Hagiwara, Ryo Kurosawa, Yukiya Sako, Megumu Ogawa, Masashi Ogasawara, Satoru Noguchi, Yuichi Goto, Ryosuke Takahashi, Ichizo Nishino, Masatoshi Hagiwara
Format:	Artigo
Sprog:	Inglês
Udgivet:	Elsevier 2023-09-01
Serier:	Molecular Therapy: Nucleic Acids
Fag:	MT: Oligonucleotides: Therapies and Applications branchpoint muscular dystrophy exon-skipping therapy splicing regulatory elements antisense oligonucleotide
Online adgang:	http://www.sciencedirect.com/science/article/pii/S2162253123001828
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