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

• Main Authors: Hiroaki Ohara (Author), Motoyasu Hosokawa (Author), Tomonari Awaya (Author), Atsuko Hagiwara (Author), Ryo Kurosawa (Author), Yukiya Sako (Author), Megumu Ogawa (Author), Masashi Ogasawara (Author), Satoru Noguchi (Author), Yuichi Goto (Author), Ryosuke Takahashi (Author), Ichizo Nishino (Author), Masatoshi Hagiwara (Author)
• Format: Book
• Published: Elsevier, 2023-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...