Reference - Detail
| RRC ID | 52186 |
|---|---|
| Author | Zhang Y, Long C, Li H, McAnally JR, Baskin KK, Shelton JM, Bassel-Duby R, Olson EN. |
| Title | CRISPR-Cpf1 correction of muscular dystrophy mutations in human cardiomyocytes and mice. |
| Journal | Sci Adv |
| Abstract |
Duchenne muscular dystrophy (DMD), caused by mutations in the X-linked dystrophin gene (DMD), is characterized by fatal degeneration of striated muscles. Dilated cardiomyopathy is one of the most common lethal features of the disease. We deployed Cpf1, a unique class 2 CRISPR (clustered regularly interspaced short palindromic repeats) effector, to correct DMD mutations in patient-derived induced pluripotent stem cells (iPSCs) and mdx mice, an animal model of DMD. Cpf1-mediated genomic editing of human iPSCs, either by skipping of an out-of-frame DMD exon or by correcting a nonsense mutation, restored dystrophin expression after differentiation to cardiomyocytes and enhanced contractile function. Similarly, pathophysiological hallmarks of muscular dystrophy were corrected in mdx mice following Cpf1-mediated germline editing. These findings are the first to show the efficiency of Cpf1-mediated correction of genetic mutations in human cells and an animal disease model and represent a significant step toward therapeutic translation of gene editing for correction of DMD. |
| Volume | 3(4) |
| Pages | e1602814 |
| Published | 2017-4-1 |
| DOI | 10.1126/sciadv.1602814 |
| PII | 1602814 |
| PMID | 28439558 |
| PMC | PMC5389745 |
| MeSH | Animals CRISPR-Cas Systems* Dystrophin* / genetics Dystrophin* / metabolism Humans Mice Mice, Inbred mdx Muscular Dystrophy, Animal / genetics Muscular Dystrophy, Animal / metabolism Muscular Dystrophy, Animal / pathology Muscular Dystrophy, Animal / therapy* Muscular Dystrophy, Duchenne / genetics Muscular Dystrophy, Duchenne / metabolism Muscular Dystrophy, Duchenne / pathology Muscular Dystrophy, Duchenne / therapy* Myocytes, Cardiac / metabolism* Myocytes, Cardiac / pathology |
| IF | 13.117 |
| Times Cited | 110 |
| Altmetric score |
オルトメトリクス指標項目
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| The most frequently cited source | X(Twitter) |
| Total number of mentions | 305 |
| Altmetric score changes over past 6months | 3.0 |
| Resource | |
| Human and Animal Cells | HPS0164 |