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Article

CRISPR-Cas9-mediated therapeutic editing of Rpe65 ameliorates the disease phenotypes in a mouse model of Leber congenital amaurosis.

Science advances - 1 Oct 2019

Jo Dong Hyun, Song Dong Woo, Cho Chang Sik, Kim Un Gi, Lee Kyu Jun, Lee Kihwang, Park Sung Wook, Kim Daesik, Kim Jin Hyoung, Kim Jin-Soo, Kim Seokjoong, Kim Jeong Hun, Lee Jung Min

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 31692906
DOI: 10.1126/sciadv.aax1210
PMCID: PMC6821465

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