Article
Use of antisense oligonucleotides to correct the splicing error in ISCU myopathy patient cell lines.
Human molecular genetics - 1 Dec 2016
Holmes-Hampton Gregory P, Crooks Daniel R, Haller Ronald G, Guo Shuling, Freier Susan M, Monia Brett P, Rouault Tracey A
Abstract excerpt
ISCU myopathy is an inherited disease that primarily affects individuals of northern Swedish descent who share a single point mutation in the fourth intron of the ISCU gene. The current study shows correction of specific phenotypes associated with disease following treatment with an antisense oligonucleotide (ASO) targeted to the site of the mutation. We have shown that ASO treatment diminished aberrant splicing...
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