Single-cut genome editing restores dystrophin expression in a new mouse model of muscular dystrophy
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Single-cut correction of a dystrophin gene mutation with CRISPR/Cas9 restored dystrophin expression in skeletal and cardiac muscles in a mouse model of Duchenne muscular dystrophy.
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Systemic AAV delivery of CRISPR-Cas9 corrected severe muscle dysfunction in ΔEx50 DMD mice, restoring up to 90% dystrophin expression throughout skeletal muscles and heart.
“The severe muscle dysfunction in the ΔEx50 mice was corrected by systemic delivery of adeno-associated virus (AAV) encoding CRISPR-Cas9 genome editing components, restoring up to 90% of dystrophin protein expression throughout skeletal muscles and the heart of ΔEx50 mice.”
From The promise and challenge of therapeutic genome editing (2020) · cites this paper as [48]
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- Authors
- Amoasii, L., Long, C., Li, H., Mireault, A. A., Shelton, J. M., Sanchez-Ortiz, E., McAnally, J. R., Bhattacharyya, S., Schmidt, F., Grimm, D., Hauschka, S. D., Bassel-Duby, R., & Olson, E. N.
- Affiliations
- The University of Texas Southwestern Medical Center (US)
- Department of Molecular Biology, Hamon Center for Regenerative Science and Medicine, Senator Paul D. Wellstone Muscular Dystrophy Cooperative Research Center, University of Texas Southern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390, USA.
- University Hospital Heidelberg (DE)
- University of Washington (US)
- Corresponding author
- Amoasii, Leonela
- Long, Chengzu
- Olson, Eric N.
- ORCID
- Venue
- Science Translational Medicine
- Published
- 2017-11-29
- Volume
- 9
- Issue
- 418
- ISSN
- 1946-6234 (ISSN-L)
- 1946-6242
- PMC
- PMC5749406
- OpenAlex
- W2775147596
- Cited by
- 247
- References
- 51
- Citations by year
- 2026: 10 · 2025: 21 · 2024: 22 · 2023: 25 · 2022: 38 · 2021: 43 · 2020: 40 · 2019: 26 · 2018: 22
- FWCI
- 9.83
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Science Translational Medicine (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- NIH Office of the Director (award316175, HL130253, award316176, HL-077439, DK-099653, AR-067294, U54 HD 087351, award316178, U54 AR-065139, award316179, AR-18860)
- Welch Foundation (award316177, 1-0025)
- Muscular Dystrophy Association (award339199)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › CRISPR and Genetic Engineering
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Muscle Physiology and Disorders
- Health Sciences › Medicine › Genetics › Neurogenetic and Muscular Disorders Research
- Keywords
- Duchenne muscular dystrophy, dystrophin, exon skipping, CRISPR/Cas9 genome editing, single guide RNA, adeno-associated virus delivery, neuromuscular disorders
- MeSH terms
- Gene Editing, Animals, Disease Models, Animal, Exons, Mutation, Dystrophin, Muscle, Skeletal, Muscular Dystrophy, Duchenne, Mice, Clustered Regularly Interspaced Short Palindromic Repeats
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