Ontology highlight
ABSTRACT:
SUBMITTER: Mookherjee S
PROVIDER: S-EPMC6245950 | biostudies-literature | 2018 Oct
REPOSITORIES: biostudies-literature
Mookherjee Suddhasil S Chen Holly Yu HY Isgrig Kevin K Yu Wenhan W Hiriyanna Suja S Levron Rivka R Li Tiansen T Colosi Peter P Chien Wade W Swaroop Anand A Wu Zhijian Z
Cell reports 20181001 3
Mutations in CEP290 cause ciliogenesis defects, leading to diverse clinical phenotypes, including Leber congenital amaurosis (LCA). Gene therapy for CEP290-associated diseases is hindered by the 7.4 kb CEP290 coding sequence, which is difficult to deliver in vivo. The multi-domain structure of the CEP290 protein suggests that a specific CEP290 domain may complement disease phenotypes. Thus, we constructed AAV vectors with overlapping CEP290 regions and evaluated their impact on photoreceptor deg ...[more]