Article
Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutations.
Molecular therapy : the journal of the American Society of Gene Therapy - 4 Aug 2021
Dulla Kalyan, Slijkerman Ralph, van Diepen Hester C, Albert Silvia, Dona Margo, Beumer Wouter, Turunen Janne J, Chan Hee Lam, Schulkens Iris A, Vorthoren Lars, den Besten Cathaline, Buil Levi, Schmidt Iris, Miao Jiayi, Venselaar Hanka, Zang Jingjing, Neuhauss Stephan C F, Peters Theo, Broekman Sanne, Pennings Ronald, Kremer Hannie, Platenburg Gerard, Adamson Peter, de Vrieze Erik, van Wijk Erwin
Abstract excerpt
Mutations in USH2A are among the most common causes of syndromic and non-syndromic retinitis pigmentosa (RP). The two most recurrent mutations in USH2A, c.2299delG and c.2276G > T, both reside in exon 13. Skipping exon 13 from the USH2A transcript presents a potential treatment modality in which the resulting transcript is predicted to encode a slightly shortened usherin protein. Morpholino-induced skipping of...
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