| First Author | Young CS | Year | 2017 |
| Journal | J Neuromuscul Dis | Volume | 4 |
| Issue | 2 | Pages | 139-145 |
| PubMed ID | 28505980 | Mgi Jnum | J:280218 |
| Mgi Id | MGI:6369129 | Doi | 10.3233/JND-170218 |
| Citation | Young CS, et al. (2017) Creation of a Novel Humanized Dystrophic Mouse Model of Duchenne Muscular Dystrophy and Application of a CRISPR/Cas9 Gene Editing Therapy. J Neuromuscul Dis 4(2):139-145 |
| abstractText | Duchenne muscular dystrophy is caused by mutations in DMD which disrupt the reading frame. Therapeutic strategies that restore DMD's reading frame, such as exon skipping and CRISPR/Cas9, need to be tested in the context of the human DMD sequence in vivo. We have developed a novel dystrophic mouse model by using CRISPR/Cas9 to delete exon 45 in the human DMD gene in hDMD mice, which places DMD out-of-frame. We have utilized this model to demonstrate that our clinically-relevant CRISPR/Cas9 platform, which targets deletion of human DMD exons 45-55, can be directly applied in vivo to restore dystrophin. |
