In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations

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 and related disorders (JSRD). We examined cilia biogenesis and function in cells derived from CEP290-LCA and CEP290-JSRD patients. CEP290 prote...

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Bibliographic Details
Main Authors: Hiroko Shimada, Quanlong Lu, Christine Insinna-Kettenhofen, Kunio Nagashima, Milton A. English, Elizabeth M. Semler, Jacklyn Mahgerefteh, Artur V. Cideciyan, Tiansen Li, Brian P. Brooks, Meral Gunay-Aygun, Samuel G. Jacobson, Tiziana Cogliati, Christopher J. Westlake, Anand Swaroop
Format: Article
Language:English
Published: Elsevier 2017-07-01
Series:Cell Reports
Subjects:
ciliopathies
LCA
Joubert syndrome
retinal degeneration
organoid
iPSC
Hedgehog signaling
ciliogenesis
ciliary transition zone
primary cilia
Online Access:http://www.sciencedirect.com/science/article/pii/S2211124717308598

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