An Updated Analysis of Exon-Skipping Applicability for Duchenne Muscular Dystrophy Using the UMD-DMD Database
Jamie Leckie, Abdullah Zia, Toshifumi Yokota · 2024
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Description
Jamie Leckie, Abdullah Zia, and Toshifumi Yokota present a 2024 analysis of a gene therapy approach for Duchenne muscular dystrophy. This severe muscle disease comes from faults in the dystrophin gene. One treatment strategy uses short synthetic strands to skip a faulty exon, restoring the gene's reading frame.
Four approved drugs of this kind target three exons, but each helps only patients with certain mutations. The authors used a large mutation database to test every single and double skipping plan in theory. Skipping could apply to over ninety percent of large deletions and small lesions, and to about ninety percent of all mutations. Exon fifty-one was the single most useful target. The results help set priorities for new drug design.
Catalog record
| CREATOR | Jamie Leckie, Abdullah Zia, Toshifumi Yokota |
|---|---|
| YEAR | 2024 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 36 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |