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CRISPR-Cas9-mediated therapeutic editing of Rpe65 ameliorates the disease phenotypes in a mouse model of Leber congenital amaurosis
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Jo, Dong Hyun | - |
dc.contributor.author | Song, Dong Woo | - |
dc.contributor.author | Cho, Chang Sik | - |
dc.contributor.author | Kim, Un Gi | - |
dc.contributor.author | Lee, Kyu Jun | - |
dc.contributor.author | Lee, Kihwang | - |
dc.contributor.author | Park, Sung Wook | - |
dc.contributor.author | Kim, Daesik | - |
dc.contributor.author | Kim, Jin Hyoung | - |
dc.contributor.author | Kim, Jin-Soo | - |
dc.contributor.author | Kim, Seokjoong | - |
dc.contributor.author | Kim, Jeong Hun | - |
dc.contributor.author | Lee, Jung Min | - |
dc.date.accessioned | 2023-04-25T07:31:20Z | - |
dc.date.available | 2023-04-25T07:31:20Z | - |
dc.date.created | 2020-04-06 | - |
dc.date.created | 2020-04-06 | - |
dc.date.created | 2020-04-06 | - |
dc.date.issued | 2019-10 | - |
dc.identifier.citation | Science advances, Vol.5 No.10 | - |
dc.identifier.issn | 2375-2548 | - |
dc.identifier.uri | https://hdl.handle.net/10371/191495 | - |
dc.description.abstract | Leber congenital amaurosis (LCA), one of the leading causes of childhood-onset blindness, is caused by autosomal recessive mutations in several genes including RPE65. In this study, we performed CRISPR-Cas9-mediated therapeutic correction of a disease-associated nonsense mutation in Rpe65 in rd12 mice, a model of human LCA. Subretinal injection of adeno-associated virus carrying CRISPR-Cas9 and donor DNA resulted in >1% homology-directed repair and similar to 1.6% deletion of the pathogenic stop codon in Rpe65 in retinal pigment epithelial tissues of rd12 mice. The a- and b-waves of electroretinograms were recovered to levels up to 21.2 +/- 4.1% and 39.8 +/- 3.2% of their wild-type mice counterparts upon bright stimuli after dark adaptation 7 months after injection. There was no definite evidence of histologic perturbation or tumorigenesis during 7 months of observation. Collectively, we present the first therapeutic correction of an Rpe65 nonsense mutation using CRISPR-Cas9, providing new insight for developing therapeutics for LCA. | - |
dc.language | 영어 | - |
dc.publisher | American Association for the Advancement of Science | - |
dc.title | CRISPR-Cas9-mediated therapeutic editing of Rpe65 ameliorates the disease phenotypes in a mouse model of Leber congenital amaurosis | - |
dc.type | Article | - |
dc.identifier.doi | 10.1126/sciadv.aax1210 | - |
dc.citation.journaltitle | Science advances | - |
dc.identifier.wosid | 000494263000004 | - |
dc.identifier.scopusid | 2-s2.0-85074593677 | - |
dc.citation.number | 10 | - |
dc.citation.volume | 5 | - |
dc.description.isOpenAccess | Y | - |
dc.contributor.affiliatedAuthor | Jo, Dong Hyun | - |
dc.contributor.affiliatedAuthor | Kim, Jeong Hun | - |
dc.type.docType | Article | - |
dc.description.journalClass | 1 | - |
dc.subject.keywordPlus | GENE-THERAPY | - |
dc.subject.keywordPlus | VISION | - |
dc.subject.keywordPlus | CELLS | - |
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