Retinal Organoids from an AIPL1 CRISPR/Cas9 Knockout Cell Line Successfully Recapitulate the Molecular Features of LCA4 Disease

Retinal Organoids from an AIPL1 CRISPR/Cas9 Knockout Cell Line Successfully Recapitulate the Molecular Features of LCA4 Disease

Aryl hydrocarbon receptor-interacting protein-like 1 (AIPL1) is expressed in photoreceptors where it facilitates the assembly of phosphodiesterase 6 (PDE6) which hydrolyses cGMP within the phototransduction cascade. Genetic variations in <i>AIPL1</i> cause type 4 Leber congenital amauros...

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Bibliographic Details
Main Authors: Pedro R. L. Perdigão, Bethany Ollington, Hali Sai, Amy Leung, Almudena Sacristan-Reviriego, Jacqueline van der Spuy
Format: Article
Language:English
Published: MDPI AG 2023-03-01
Series:International Journal of Molecular Sciences
Subjects:
AIPL1
CRISPR/Cas9 gene editing
inherited retinal dystrophy
Leber congenital amaurosis
retinal organoid
Online Access:https://www.mdpi.com/1422-0067/24/6/5912

Internet

https://www.mdpi.com/1422-0067/24/6/5912

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