Creation of a novel humanized dystrophic mouse model of Duchenne muscular dystrophy and application of a CRISPR/Cas9 gene editing therapy
CS Young, E Mokhonova, M Quinonez… - Journal of …, 2017 - content.iospress.com
CS Young, E Mokhonova, M Quinonez, AD Pyle, MJ Spencer
Journal of neuromuscular diseases, 2017•content.iospress.comDuchenne 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 …
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 …
Abstract
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.
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