Article
In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations.
Cell reports - 11 Jul 2017
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
Abstract excerpt
Mutations in CEP290, a transition zone protein in primary cilia, cause diverse ciliopathies, including Leber congenital amaurosis (LCA) and Joubert-syndrome and related disorders (JSRD). We examined cilia biogenesis and function in cells derived from CEP290-LCA and CEP290-JSRD patients. CEP290 protein was reduced in LCA fibroblasts with no detectable impact on cilia; however, optic cups derived from induced...
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