Natural History of Cone Disease in the Murine Model of Leber Congenital Amaurosis Due to CEP290 Mutation: Determining the Timing and Expectation of Therapy

BACKGROUND: Mutations in the CEP290 (cilia-centrosomal protein 290 kDa) gene in Leber congenital amaurosis (LCA) cause early onset visual loss but retained cone photoreceptors in the fovea, which is the potential therapeutic target. A cone-only mouse model carrying a Cep290 gene mutation, rd16;Nrl(−...

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書誌詳細
主要な著者: Boye, Shannon E., Huang, Wei-Chieh, Roman, Alejandro J., Sumaroka, Alexander, Boye, Sanford L., Ryals, Renee C., Olivares, Melani B., Ruan, Qing, Tucker, Budd A., Stone, Edwin M., Swaroop, Anand, Cideciyan, Artur V., Hauswirth, William W., Jacobson, Samuel G.
フォーマット: Artigo
言語:Inglês
出版事項: Public Library of Science 2014
主題:
Research Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3966841/
https://ncbi.nlm.nih.gov/pubmed/24671090
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0092928
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