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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...
Autores principales: | 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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7096529/ https://www.ncbi.nlm.nih.gov/pubmed/32214115 http://dx.doi.org/10.1038/s41598-020-62047-2 |
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