In vitro modeling using ciliopathy patient-derived cells reveals distinct cilia dysfunctions caused by CEP290 mutations

Mutations in CEP290, a transition zone protein in primary cilia, cause diverse ciliopathies, including Leber congenital amaurosis (LCA) and Joubert syndrome related disorders (JSRD). We examined cilia biogenesis and function in cells derived from CEP290-LCA and CEP290-JSRD patients. CEP290 protein w...

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Publicado no:Cell Rep
Main Authors: Shimada, Hiroko, Lu, Quanlong, Insinna-Kettenhofen, Christine, Nagashima, Kunio, English, Milton A., Semler, Elizabeth M., Mahgerefteh, Jacklyn, Cideciyan, Artur V., Li, Tiansen, Brooks, Brian P., Gunay-Aygun, Meral, Jacobson, Samuel G., Cogliati, Tiziana, Westlake, Christopher J., Swaroop, Anand
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5553702/
https://ncbi.nlm.nih.gov/pubmed/28700940
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.celrep.2017.06.045
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