Retinal Organoids derived from hiPSCs of an AIPL1-LCA Patient Maintain Cytoarchitecture despite Reduced levels of Mutant AIPL1

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 (LCA...

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Bibliografiska uppgifter
I publikationen:Sci Rep
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: Nature Publishing Group UK 2020
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC7096529/
https://ncbi.nlm.nih.gov/pubmed/32214115
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-020-62047-2
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