Associated Papers
Restoring Sight: The Journey of AIPL1 from Discovery to Therapy.
Galieva A et al.
International Journal of Molecular Sciences, 2025
Gene therapy in children with AIPL1-associated severe retinal dystrophy: an open-label, first-in-human interventional study.
Michaelides M et al.
Lancet (london, England), 2025
Retinal Organoids from Induced Pluripotent Stem Cells of Patients with Inherited Retinal Diseases: A Systematic Review.
Lee YJ et al.
Stem Cell Reviews and Reports, 2025
Effective AAV-mediated gene replacement therapy in retinal organoids modeling AIPL1-associated LCA4.
Sai H et al.
Molecular Therapy. Nucleic Acids, 2024
Application of patient-derived induced pluripotent stem cells and organoids in inherited retinal diseases.
Liang Y et al.
Stem Cell Research & Therapy, 2023
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
Retinal Organoids: A Human Model System for Development, Diseases, and Therapies.
Kandoi S et al.
Advances in Experimental Medicine and Biology, 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
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
The ubiquitin-like modifier FAT10 inhibits retinal PDE6 activity and mediates its proteasomal degradation.
Boehm AN et al.
The Journal of Biological Chemistry, 2020
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
Retinal Organoids derived from hiPSCs of an AIPL1-LCA Patient Maintain Cytoarchitecture despite Reduced levels of Mutant AIPL1.
Lukovic D et al.
Scientific Reports, 2020
Generation of a human iPSC line from a patient with Leber congenital amaurosis caused by mutation in AIPL1.
Lukovic D et al.
Stem Cell Research, 2018
AIPL1: A specialized chaperone for the phototransduction effector.
Yadav RP et al.
Cellular Signalling, 2017
The integrity and organization of the human AIPL1 functional domains is critical for its role as a HSP90-dependent co-chaperone for rod PDE6.
Sacristan-Reviriego A et al.
Human Molecular Genetics, 2017
Mouse models of human ocular disease for translational research.
Krebs MP et al.
Plos One, 2017
Molecular findings from 537 individuals with inherited retinal disease.
Ellingford JM et al.
Journal of Medical Genetics, 2016
Aryl Hydrocarbon Receptor-interacting Protein-like 1 Is an Obligate Chaperone of Phosphodiesterase 6 and Is Assisted by the γ-Subunit of Its Client.
Gopalakrishna KN et al.
The Journal of Biological Chemistry, 2016
Extended conformation of the proline-rich domain of human aryl hydrocarbon receptor-interacting protein-like 1: implications for retina disease.
Yadav RP et al.
Journal of Neurochemistry, 2015
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.
Wang X et al.
Journal of Medical Genetics, 2013
Interaction of aryl hydrocarbon receptor-interacting protein-like 1 with the farnesyl moiety.
Majumder A et al.
The Journal of Biological Chemistry, 2013
Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining.
Jacobson SG et al.
Investigative Ophthalmology & Visual Science, 2011
Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India.
Sundaresan P et al.
Molecular Vision, 2009
Leber congenital amaurosis: genes, proteins and disease mechanisms.
den Hollander AI et al.
Progress in Retinal and Eye Research, 2008
Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture.
Stone EM
American Journal of Ophthalmology, 2007