Article
Retinal Organoids derived from hiPSCs of an AIPL1-LCA Patient Maintain Cytoarchitecture despite Reduced levels of Mutant AIPL1.
Scientific reports - 25 Mar 2020
Lukovic Dunja, Artero Castro Ana, Kaya Koray Dogan, Munezero Daniella, Gieser Linn, Davó-Martínez Carlota, Corton Marta, Cuenca Nicolás, Swaroop Anand, Ramamurthy Visvanathan, Ayuso Carmen, Erceg Slaven
Abstract excerpt
Aryl hydrocarbon receptor-interacting protein-like 1 (AIPL1) is a photoreceptor-specific chaperone that stabilizes the effector enzyme of phototransduction, cGMP phosphodiesterase 6 (PDE6). Mutations in the AIPL1 gene cause a severe inherited retinal dystrophy, Leber congenital amaurosis type 4 (LCA4), that manifests as the loss of vision during the first year of life. In this study, we generated...
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