Small molecule treatment alleviates photoreceptor cilia defects in LCA5-deficient human retinal organoids

Small molecule treatment alleviates photoreceptor cilia defects in LCA5-deficient human retinal organoids

Abstract Bialleleic pathogenic variants in LCA5 cause one of the most severe forms of Leber congenital amaurosis, an early-onset retinal disease that results in severe visual impairment. Here, we report the use of gene editing to generate isogenic LCA5 knock-out (LCA5 KO) induced pluripotent stem ce...

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Main Authors: Dimitra Athanasiou, Tess A. V. Afanasyeva, Niuzheng Chai, Kalliopi Ziaka, Katarina Jovanovic, Rosellina Guarascio, Karsten Boldt, Julio C. Corral-Serrano, Naheed Kanuga, Ronald Roepman, Rob W. J. Collin, Michael E. Cheetham
Format: Article
Language:English
Published: BMC 2025-02-01
Series:Acta Neuropathologica Communications
Subjects:
Retinal dystrophy
LCA
LCA5
Stem cell
Organoid
Gene editing
Online Access:https://doi.org/10.1186/s40478-025-01943-y
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https://doi.org/10.1186/s40478-025-01943-y

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