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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Detaylı Bibliyografya
Yayımlandı:Cell Rep
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2017
Konular:
Article
Online Erişim: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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