Ontology highlight
ABSTRACT:
SUBMITTER: Jo DH
PROVIDER: S-EPMC6821465 | biostudies-literature | 2019 Oct
REPOSITORIES: biostudies-literature
Jo Dong Hyun DH Song Dong Woo DW Cho Chang Sik CS Kim Un Gi UG Lee Kyu Jun KJ Lee Kihwang K Park Sung Wook SW Kim Daesik D Kim Jin Hyoung JH Kim Jin-Soo JS Kim Seokjoong S Kim Jeong Hun JH Lee Jung Min JM
Science advances 20191030 10
Leber congenital amaurosis (LCA), one of the leading causes of childhood-onset blindness, is caused by autosomal recessive mutations in several genes including <i>RPE65</i>. In this study, we performed CRISPR-Cas9-mediated therapeutic correction of a disease-associated nonsense mutation in <i>Rpe65</i> in <i>rd12</i> 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 ~1.6% deletion of the path ...[more]