Associated Papers
Restoring Sight: The Journey of AIPL1 from Discovery to Therapy.
Galieva A et al.
International Journal of Molecular Sciences, 2025
Adenine base editor correction of pathogenic variations associated with inherited retinal dystrophy in patient iPSC and retinal organoids.
Leung A et al.
Molecular Therapy. Nucleic Acids, 2025
Retinal Organoids from an AIPL1 CRISPR/Cas9 Knockout Cell Line Successfully Recapitulate the Molecular Features of LCA4 Disease.
Perdigão PRL et al.
International Journal of Molecular Sciences, 2023
Investigation of PTC124-mediated translational readthrough in a retinal organoid model of AIPL1-associated Leber congenital amaurosis.
Leung A et al.
Stem Cell Reports, 2022
Clinical and functional analyses of AIPL1 variants reveal mechanisms of pathogenicity linked to different forms of retinal degeneration.
Sacristan-Reviriego A et al.
Scientific Reports, 2020
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