{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,13]],"date-time":"2026-01-13T15:11:22Z","timestamp":1768317082284,"version":"3.49.0"},"reference-count":192,"publisher":"MDPI AG","issue":"24","license":[{"start":{"date-parts":[[2025,12,15]],"date-time":"2025-12-15T00:00:00Z","timestamp":1765756800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100012190","name":"Ministry of Science and Higher Education of the Russian Federation","doi-asserted-by":"publisher","award":["Agreement No 075-10-2025-017 from the 27.02.2025 project (GTH-RND-2011)."],"award-info":[{"award-number":["Agreement No 075-10-2025-017 from the 27.02.2025 project (GTH-RND-2011)."]}],"id":[{"id":"10.13039\/501100012190","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Leber congenital amaurosis (LCA) is a severe inherited retinal disorder manifesting at birth or in early infancy, with a subset of cases linked to mutations in the aryl hydrocarbon receptor-interacting protein-like 1 (AIPL1) gene. Initially identified as the disease locus for LCA4, AIPL1 exhibits a retina-specific expression pattern. Its protein product is a unique member of the FKBP family, distinguished by its specific structural features and specialized functions. A wide spectrum of mutations in AIPL1 is associated with varying severities of retinal degeneration, implicating diverse pathogenic mechanisms. While the early onset and rapid progression of AIPL1-related disorders pose a therapeutic challenge, significant progress in gene therapy has unlocked promising avenues for effective treatment. This comprehensive review summarizes current findings to spark interest and pave the way for further studies in the therapy of AIPL1-caused retinal diseases.<\/jats:p>","DOI":"10.3390\/ijms262412066","type":"journal-article","created":{"date-parts":[[2025,12,15]],"date-time":"2025-12-15T15:15:08Z","timestamp":1765811708000},"page":"12066","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Restoring Sight: The Journey of AIPL1 from Discovery to Therapy"],"prefix":"10.3390","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8190-0710","authenticated-orcid":false,"given":"Alima","family":"Galieva","sequence":"first","affiliation":[{"name":"Gene Therapy Department, Center for Translational Medicine, Sirius University of Science and Technology, 354340 Sirius, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6391-5182","authenticated-orcid":false,"given":"Alexander","family":"Karabelsky","sequence":"additional","affiliation":[{"name":"Gene Therapy Department, Center for Translational Medicine, Sirius University of Science and Technology, 354340 Sirius, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5953-8097","authenticated-orcid":false,"given":"Alexander D.","family":"Egorov","sequence":"additional","affiliation":[{"name":"Gene Therapy Department, Center for Translational Medicine, Sirius University of Science and Technology, 354340 Sirius, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,12,15]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"791","DOI":"10.1016\/j.ajo.2007.08.022","article-title":"Leber Congenital Amaurosis-A Model for Efficient Genetic Testing of Heterogeneous Disorders: LXIV Edward Jackson Memorial Lecture","volume":"144","author":"Stone","year":"2007","journal-title":"Am. J. Ophthalmol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1016\/j.survophthal.2004.04.003","article-title":"An Overview of Leber Congenital Amaurosis: A Model to Understand Human Retinal Development","volume":"49","author":"Koenekoop","year":"2004","journal-title":"Surv. Ophthalmol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1080\/13816810802334341","article-title":"Genetic Isolates in Ophthalmic Diseases","volume":"29","author":"Sherwin","year":"2008","journal-title":"Ophthalmic Genet."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1016\/j.jaapos.2009.10.004","article-title":"Leber Congenital Amaurosis: Clinical Correlations with Genotypes, Gene Therapy Trials Update, and Future Directions","volume":"13","author":"Chung","year":"2009","journal-title":"J. Am. Assoc. Pediatr. Ophthalmol. Strabismus"},{"key":"ref_5","unstructured":"(2025, December 03). Leber Congenital Amaurosis. Available online: https:\/\/www.aao.org\/education\/disease-review\/leber-congenital-amaurosis-4."},{"key":"ref_6","doi-asserted-by":"crossref","unstructured":"Sather, R., Ihinger, J., Simmons, M., Lobo, G.P., and Montezuma, S.R. (2024). The Clinical Findings, Pathogenic Variants, and Gene Therapy Qualifications Found in a Leber Congenital Amaurosis Phenotypic Spectrum Patient Cohort. Int. J. Mol. Sci., 25.","DOI":"10.3390\/ijms25021253"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1147","DOI":"10.1136\/bjophthalmol-2016-309975","article-title":"Leber Congenital Amaurosis\/Early-Onset Severe Retinal Dystrophy: Clinical Features, Molecular Genetics and Therapeutic Interventions","volume":"101","author":"Kumaran","year":"2017","journal-title":"Br. J. Ophthalmol."},{"key":"ref_8","unstructured":"(2023, November 17). RetNet-Retinal Information Network. Available online: https:\/\/web.sph.uth.edu\/RetNet\/."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1002\/mgg3.321","article-title":"The Genetic Profile of Leber Congenital Amaurosis in an Australian Cohort","volume":"5","author":"Thompson","year":"2017","journal-title":"Mol. Genet. Genom. Med."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1007\/978-3-319-75402-4_47","article-title":"The Leber Congenital Amaurosis-Linked Protein AIPL1 and Its Critical Role in Photoreceptors","volume":"1074","year":"2018","journal-title":"Retinal Degenerative Diseases"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"2089","DOI":"10.1021\/bi301648q","article-title":"Unique Proline-Rich Domain Regulates the Chaperone Function of AIPL1","volume":"52","author":"Li","year":"2013","journal-title":"Biochemistry"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"648","DOI":"10.1016\/S0140-6736(24)02812-5","article-title":"Gene Therapy in Children with AIPL1-Associated Severe Retinal Dystrophy: An Open-Label, First-in-Human Interventional Study","volume":"405","author":"Michaelides","year":"2025","journal-title":"Lancet"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"108192","DOI":"10.1016\/j.visres.2023.108192","article-title":"Genome Editing, a Superior Therapy for Inherited Retinal Diseases","volume":"206","author":"Yan","year":"2023","journal-title":"Vision Res."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"566","DOI":"10.1007\/s003350020024","article-title":"Comparative Analysis of Aryl-Hydrocarbon Receptor Interacting Protein-like 1 (Aipl1), a Gene Associated with Inherited Retinal Disease in Humans","volume":"12","author":"Sohocki","year":"2001","journal-title":"Mamm. Genome"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"628","DOI":"10.1007\/s00239-023-10124-1","article-title":"Molecular Evolution of Aryl Hydrocarbon Receptor Signaling Pathway Genes","volume":"91","author":"Bhalla","year":"2023","journal-title":"J. Mol. Evol."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"45962","DOI":"10.1038\/srep45962","article-title":"Aipl1 Is Required for Cone Photoreceptor Function and Survival through the Stability of Pde6c and Gc3 in Zebrafish","volume":"7","author":"Iribarne","year":"2017","journal-title":"Sci. Rep."},{"key":"ref_17","doi-asserted-by":"crossref","unstructured":"Lyons, L.A., Creighton, E.K., Alhaddad, H., Beale, H.C., Grahn, R.A., Rah, H.C., Maggs, D.J., Helps, C.R., and Gandolfi, B. (2016). Whole Genome Sequencing in Cats, Identifies New Models for Blindness in AIPL1 and Somite Segmentation in HES7. BMC Genom., 17.","DOI":"10.1186\/s12864-016-2595-4"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"17520","DOI":"10.1038\/s41598-020-74516-9","article-title":"Clinical and Functional Analyses of AIPL1 Variants Reveal Mechanisms of Pathogenicity Linked to Different Forms of Retinal Degeneration","volume":"10","author":"Le","year":"2020","journal-title":"Sci. Rep."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1006\/geno.1999.5810","article-title":"Localization of Retina\/Pineal-Expressed Sequences: Identification of Novel Candidate Genes for Inherited Retinal Disorders","volume":"58","author":"Sohocki","year":"1999","journal-title":"Genomics"},{"key":"ref_20","unstructured":"Sohocki, M., Blackshaw, S., Cepko, C., Sullivan, L., and Daiger, S. (1999, January 19\u201323). Human Aryl-hydrocarbon Interacting Protein-like 1 Gene (AIPL1), a Candidate for Inherited Retinal Disorders: Mapping to 17p13, Characterization and Mutation Testing. Proceedings of the ASHG Annual Meeting 65, San Francisco, CA, USA."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1159\/000015556","article-title":"Expression Map of Human Chromosome Region 17p13. 3, Spanning the RP13 Dominant Retinitis Pigmentosa Locus, the Miller-Dieker Lissencephaly Syndrome (MDLS)","volume":"88","author":"McHale","year":"2000","journal-title":"Cytogenet. Cell Genet."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1038\/71732","article-title":"Mutations in a New Photoreceptor-Pineal Gene on 17p Cause Leber Congenital Amaurosis","volume":"24","author":"Sohocki","year":"2000","journal-title":"Nat. Genet."},{"key":"ref_23","unstructured":"(2025, November 21). AIPL1 AIP like 1 HSP90 Co-Chaperone [Homo Sapiens (Human)]-Gene-NCBI, Available online: https:\/\/www.ncbi.nlm.nih.gov\/gene\/23746."},{"key":"ref_24","first-page":"2481","article-title":"Alternative Splicing in AIPL1\u2014Implications On Function And The Mutational Spectrum","volume":"45","author":"Janke","year":"2004","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_25","doi-asserted-by":"crossref","unstructured":"Farkas, M.H., Grant, G.R., White, J.A., Sousa, M.E., Consugar, M.B., and Pierce, E.A. (2013). Transcriptome Analyses of the Human Retina Identify Unprecedented Transcript Diversity and 3.5 Mb of Novel Transcribed Sequence via Significant Alternative Splicing and Novel Genes. BMC Genom., 14.","DOI":"10.1186\/1471-2164-14-486"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"7784","DOI":"10.1167\/iovs.15-18092","article-title":"Investigation of Aberrant Splicing Induced by AIPL1 Variations as a Cause of Leber Congenital Amaurosis","volume":"56","author":"Bellingham","year":"2015","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_27","first-page":"3101","article-title":"Alternative Splicing of LCA Gene AIPL1 Is Conserved in Mammals","volume":"46","author":"Janke","year":"2005","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1006\/mgme.2000.3001","article-title":"Prevalence of AIPL1 Mutations in Inherited Retinal Degenerative Disease","volume":"70","author":"Sohocki","year":"2000","journal-title":"Mol. Genet. Metab."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"4465","DOI":"10.1093\/hmg\/ddx334","article-title":"The Integrity and Organization of the Human AIPL1 Functional Domains Is Critical for Its Role as a HSP90-Dependent Co-Chaperone for Rod PDE6","volume":"26","author":"Bellingham","year":"2017","journal-title":"Hum. Mol. Genet."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"E6536","DOI":"10.1073\/pnas.1704782114","article-title":"Unique Structural Features of the AIPL1\u2013FKBP Domain That Support Prenyl Lipid Binding and Underlie Protein Malfunction in Blindness","volume":"114","author":"Yadav","year":"2017","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"2878","DOI":"10.1167\/iovs.07-1576","article-title":"The Leber Congenital Amaurosis Protein AIPL1 Functions as Part of a Chaperone Heterocomplex","volume":"49","author":"Evans","year":"2008","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1530\/JOE-11-0054","article-title":"AIP and Its Interacting Partners","volume":"210","author":"Trivellin","year":"2011","journal-title":"J. Endocrinol."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"4535","DOI":"10.1038\/s41467-021-24781-7","article-title":"Retinoblastoma from Human Stem Cell-Derived Retinal Organoids","volume":"12","author":"Norrie","year":"2021","journal-title":"Nat. Commun."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1093\/hmg\/11.7.823","article-title":"The Leber Congenital Amaurosis Gene Product AIPL1 Is Localized Exclusively in Rod Photoreceptors of the Adult Human Retina","volume":"11","author":"Chapple","year":"2002","journal-title":"Hum. Mol. Genet."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"5396","DOI":"10.1167\/iovs.03-0686","article-title":"The Expression of the Leber Congenital Amaurosis Protein AIPL1 Coincides with Rod and Cone Photoreceptor Development","volume":"44","author":"Kim","year":"2003","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1016\/j.exer.2008.07.016","article-title":"Rod Photoreceptor Differentiation in Fetal and Infant Human Retina","volume":"87","author":"Hendrickson","year":"2008","journal-title":"Exp. Eye Res."},{"key":"ref_37","first-page":"2039","article-title":"Spatial and Temporal Expression of AIPL1 and NUB1 Protein in Human Retina","volume":"44","author":"Spuy","year":"2003","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1007\/978-1-4614-3209-8_6","article-title":"AIPL1 Protein and Its Indispensable Role in Cone Photoreceptor Function and Survival","volume":"801","author":"Kolandaivelu","year":"2014","journal-title":"Adv. Exp. Med. Biol."},{"key":"ref_39","first-page":"542","article-title":"Predominant Rod Photoreceptor Degeneration in Leber Congenital Amaurosis","volume":"11","author":"Munro","year":"2005","journal-title":"Mol. Vis."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"1029","DOI":"10.1001\/archopht.122.7.1029","article-title":"The Phenotype of Leber Congenital Amaurosis in Patients With AIPL1 Mutations","volume":"122","author":"Dharmaraj","year":"2004","journal-title":"Arch. Ophthalmol."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"e67","DOI":"10.1136\/jmg.2005.035121","article-title":"Identification of Mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 Genes in Patients with Juvenile Retinitis Pigmentosa","volume":"42","author":"Booij","year":"2005","journal-title":"J. Med. Genet."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"1076","DOI":"10.1093\/hmg\/ddp571","article-title":"The Leber Congenital Amaurosis Protein, AIPL1, Is Needed for the Viability and Functioning of Cone Photoreceptor Cells","volume":"19","author":"Kirschman","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1038\/ng1386","article-title":"Identification and Characterization of Rod-Derived Cone Viability Factor","volume":"36","author":"Lorentz","year":"2004","journal-title":"Nat. Genet."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1038\/mt.2009.28","article-title":"Functional Cone Rescue by RdCVF Protein in a Dominant Model of Retinitis Pigmentosa","volume":"17","author":"Yang","year":"2009","journal-title":"Mol. Ther."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"d2023","DOI":"10.2741\/krizaj","article-title":"Calcium Regulation in Photoreceptors","volume":"7","author":"Krizaj","year":"2002","journal-title":"Front. Biosci."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"11788","DOI":"10.1073\/pnas.0812781106","article-title":"High cGMP Synthetic Activity in Carp Cones","volume":"106","author":"Takemoto","year":"2009","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_47","first-page":"4144","article-title":"The Leber Congenital Amaurosis (LCA) Protein, AIPL1, Is Essential for Cone Photoreceptor Cells","volume":"50","author":"Michalovicz","year":"2009","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"2099","DOI":"10.1093\/hmg\/ddp133","article-title":"Gene Therapy for Retinitis Pigmentosa and Leber Congenital Amaurosis Caused by Defects in AIPL1: Effective Rescue of Mouse Models of Partial and Complete Aipl1","volume":"18","author":"Tan","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"A417","DOI":"10.1136\/esmoopen-2018-EACR25.982","article-title":"NUB1 as a Prognostic Marker in Breast Cancer: A Retrospective, Integrated Genomic, Transcriptomic, and Protein Analysis","volume":"3","author":"Tan","year":"2018","journal-title":"Proceedings of the ESMO Open"},{"key":"ref_50","unstructured":"Tan, K.-L. (2017). Translational Relevance of AIPL1 and NUB1 in Cancer. [Ph.D. Thesis, University of Oxford]."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"16282","DOI":"10.1074\/jbc.M116.737593","article-title":"Aryl Hydrocarbon Receptor-Interacting Protein-like 1 Is an Obligate Chaperone of Phosphodiesterase 6 and Is Assisted by the \u03b3-Subunit of Its Client","volume":"291","author":"Gopalakrishna","year":"2016","journal-title":"J. Biol. Chem."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1111\/jnc.13223","article-title":"Extended Conformation of the Proline-Rich Domain of Human Aryl Hydrocarbon Receptor-Interacting Protein-like 1: Implications for Retina Disease","volume":"135","author":"Yadav","year":"2015","journal-title":"J. Neurochem."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1016\/j.cellsig.2017.09.014","article-title":"AIPL1: A Specialized Chaperone for the Phototransduction Effector","volume":"40","author":"Yadav","year":"2017","journal-title":"Cell. Signal."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1016\/j.jmb.2010.06.066","article-title":"Charge-Rich Regions Modulate the Anti-Aggregation Activity of Hsp90","volume":"401","author":"Wayne","year":"2010","journal-title":"J. Mol. Biol."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"15795","DOI":"10.1074\/jbc.RA119.010666","article-title":"Interaction of the TPR-Domain of Aryl Hydrocarbon Receptor-Interacting Protein-like 1 with the Regulatory P [Gamma] Subunit of Phosphodiesterase 6","volume":"294","author":"Yadav","year":"2019","journal-title":"J. Biol. Chem."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1038\/s41586-024-07487-w","article-title":"Accurate Structure Prediction of Biomolecular Interactions with AlphaFold 3","volume":"630","author":"Abramson","year":"2024","journal-title":"Nature"},{"key":"ref_57","doi-asserted-by":"crossref","unstructured":"Ziaka, K., and van der Spuy, J. (2022). The Role of Hsp90 in Retinal Proteostasis and Disease. Biomolecules, 12.","DOI":"10.3390\/biom12070978"},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"2097","DOI":"10.1021\/bi301649m","article-title":"The FKBP-Type Domain of the Human Aryl Hydrocarbon Receptor-Interacting Protein Reveals an Unusual Hsp90 Interaction","volume":"52","author":"Linnert","year":"2013","journal-title":"Biochemistry"},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1016\/j.str.2022.12.014","article-title":"Unique Interface and Dynamics of the Complex of HSP90 with a Specialized Cochaperone AIPL1","volume":"31","author":"Srivastava","year":"2023","journal-title":"Structure"},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"7010","DOI":"10.1038\/s41467-022-34773-w","article-title":"Cryo-EM Structure of the Agonist-Bound Hsp90-XAP2-AHR Cytosolic Complex","volume":"13","author":"Gruszczyk","year":"2022","journal-title":"Nat. Commun."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"101620","DOI":"10.1016\/j.jbc.2022.101620","article-title":"Molecular Insights into the Maturation of Phosphodiesterase 6 by the Specialized Chaperone Complex of HSP90 with AIPL1","volume":"298","author":"Yadav","year":"2022","journal-title":"J. Biol. Chem."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"21320","DOI":"10.1074\/jbc.M113.476242","article-title":"Interaction of Aryl Hydrocarbon Receptor-Interacting Protein-like 1 with the Farnesyl Moiety","volume":"288","author":"Majumder","year":"2013","journal-title":"J. Biol. Chem."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"13897","DOI":"10.1073\/pnas.0404197101","article-title":"Leber Congenital Amaurosis Linked to AIPL1: A Mouse Model Reveals Destabilization of cGMP Phosphodiesterase","volume":"101","author":"Ramamurthy","year":"2004","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1007\/s12104-018-9856-x","article-title":"NMR Resonance Assignments of the TPR Domain of Human Aryl Hydrocarbon Receptor-Interacting Protein-like 1 (AIPL1)","volume":"13","author":"Yu","year":"2019","journal-title":"Biomol. NMR Assign."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"e970499","DOI":"10.4161\/21690693.2014.970499","article-title":"Unreported Intrinsic Disorder in Proteins: Building Connections to the Literature on IDPs","volume":"2","author":"Uversky","year":"2014","journal-title":"Intrinsically Disord. Proteins"},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"670","DOI":"10.1093\/hmg\/ddu487","article-title":"Viral-Mediated Vision Rescue of a Novel AIPL1 Cone-Rod Dystrophy Model","volume":"24","author":"Ku","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"1002","DOI":"10.1093\/hmg\/ddt496","article-title":"AIPL1, a Protein Linked to Blindness, Is Essential for the Stability of Enzymes Mediating cGMP Metabolism in Cone Photoreceptor Cells","volume":"23","author":"Kolandaivelu","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"ref_68","unstructured":"Parise, B. (2014). Splicing Pattern of Aryl Hydrocarbon Interacting Protein like 1 (AIPL1) in Relation to Centromere Protein F. [Ph.D. Thesis, Justus Liebig University Giessen]."},{"key":"ref_69","doi-asserted-by":"crossref","unstructured":"Hidalgo-De-Quintana, J., Schwarz, N., Meschede, I.P., Stern-Schneider, G., Powner, M.B., Morrison, E.E., Futter, C.E., Wolfrum, U., Cheetham, M.E., and Van Der Spuy, J. (2015). The Leber Congenital Amaurosis Protein AIPL1 and EB Proteins Co-Localize at the Photoreceptor Cilium. PLoS ONE, 10.","DOI":"10.1371\/journal.pone.0121440"},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1007\/978-1-4615-0067-4_35","article-title":"Functional Studies of AIPL1: Potential Role of AIPL1 in Cell Cycle Exit and\/or Differentiation of Photoreceptors","volume":"533","author":"LaVail","year":"2003","journal-title":"Retinal Degenerations: Mechanisms and Experimental Therapy"},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"2723","DOI":"10.1093\/hmg\/11.22.2723","article-title":"The Inherited Blindness Associated Protein AIPL1 Interacts with the Cell Cycle Regulator Protein NUB1","volume":"11","author":"Akey","year":"2002","journal-title":"Hum. Mol. Genet."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"768","DOI":"10.1016\/j.bbrc.2004.03.108","article-title":"Abolished Interaction of NUB1 with Mutant AIPL1 Involved in Leber Congenital Amaurosis","volume":"317","author":"Kanaya","year":"2004","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"ref_73","doi-asserted-by":"crossref","unstructured":"Bett, J.S., Kanuga, N., Richet, E., Schmidtke, G., Groettrup, M., Cheetham, M.E., and van der Spuy, J. (2012). The Inherited Blindness Protein AIPL1 Regulates the Ubiquitin-Like FAT10 Pathway. PLoS ONE, 7.","DOI":"10.1371\/journal.pone.0030866"},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"14402","DOI":"10.1074\/jbc.RA120.013873","article-title":"The Ubiquitin-like Modifier FAT10 Inhibits Retinal PDE6 Activity and Mediates Its Proteasomal Degradation","volume":"295","author":"Boehm","year":"2020","journal-title":"J. Biol. Chem."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"30853","DOI":"10.1074\/jbc.M109.036780","article-title":"AIPL1, a Protein Associated with Childhood Blindness, Interacts with \u03b1-Subunit of Rod Phosphodiesterase (PDE6) and Is Essential for Its Proper Assembly","volume":"284","author":"Kolandaivelu","year":"2009","journal-title":"J. Biol. Chem."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1007\/s12104-017-9730-2","article-title":"NMR Resonance Assignments of the FKBP Domain of Human Aryl Hydrocarbon Receptor-Interacting Protein-like 1 (AIPL1) in Complex with a Farnesyl Ligand","volume":"11","author":"Yu","year":"2017","journal-title":"Biomol. NMR Assign."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"48038","DOI":"10.1074\/jbc.M407871200","article-title":"The Leber Congenital Amaurosis Protein AIPL1 Modulates the Nuclear Translocation of NUB1 and Suppresses Inclusion Formation by NUB1 Fragments","volume":"279","author":"Spuy","year":"2004","journal-title":"J. Biol. Chem."},{"key":"ref_78","first-page":"36407","article-title":"Binding of Aryl Hydrocarbon Receptor (AhR) to AhR-Interacting Protein: The Role of Hsp90","volume":"275","author":"Bell","year":"2000","journal-title":"J. Biol."},{"key":"ref_79","doi-asserted-by":"crossref","unstructured":"van der Spuy, J., and Cheetham, M.E. (2006). The Chaperone Function of the LCA Protein AIPL1, Springer.","DOI":"10.1007\/0-387-32442-9_65"},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1007\/s12177-013-9102-9","article-title":"Structural Studies on AIPL1 and Its Functional Interactions with NUB1 to Identify Key Interacting Residues in LCA4","volume":"5","author":"Muthukumaran","year":"2013","journal-title":"J. Ocul. Biol. Dis. Inform."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"13903","DOI":"10.1073\/pnas.0405160101","article-title":"AIPL1, the Protein That Is Defective in Leber Congenital Amaurosis, Is Essential for the Biosynthesis of Retinal Rod cGMP Phosphodiesterase","volume":"101","author":"Liu","year":"2004","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"12630","DOI":"10.1073\/pnas.2134194100","article-title":"AIPL1, a Protein Implicated in Leber\u2019s Congenital Amaurosis, Interacts with and Aids in Processing of Farnesylated Proteins","volume":"100","author":"Ramamurthy","year":"2003","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1126\/science.175.4023.757","article-title":"Cyclic Nucleotide Phosphodiesterase: High Activity in a Mammalian Photoreceptor","volume":"175","author":"Pannbacker","year":"1972","journal-title":"Science"},{"key":"ref_84","doi-asserted-by":"crossref","unstructured":"Ashok, S., and Ramachandra Rao, S. (2024). Updates on Protein-Prenylation and Associated Inherited Retinopathies. Front. Ophthalmol., 4.","DOI":"10.3389\/fopht.2024.1410874"},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"1190","DOI":"10.1016\/j.ophtha.2009.09.056","article-title":"Visual Acuity in Patients with Leber\u2019s Congenital Amaurosis and Early Childhood-Onset Retinitis Pigmentosa","volume":"117","author":"Walia","year":"2010","journal-title":"Ophthalmology"},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"5653","DOI":"10.1167\/iovs.07-0007","article-title":"Mutation Screening of 299 Spanish Families with Retinal Dystrophies by Leber Congenital Amaurosis Genotyping Microarray","volume":"48","author":"Vallespin","year":"2007","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1167\/iovs.10-6127","article-title":"Human Retinal Disease from AIPL1 Gene Mutations: Foveal Cone Loss with Minimal Macular Photoreceptors and Rod Function Remaining","volume":"52","author":"Jacobson","year":"2011","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_88","doi-asserted-by":"crossref","unstructured":"Tan, M.H., Mackay, D.S., Cowing, J., Tran, H.V., Smith, A.J., Wright, G.A., Dev-Borman, A., Henderson, R.H., Moradi, P., and Russell-Eggitt, I. (2012). Leber Congenital Amaurosis Associated with AIPL1: Challenges in Ascribing Disease Causation, Clinical Findings, and Implications for Gene Therapy. PLoS ONE, 7.","DOI":"10.1371\/journal.pone.0032330"},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1007\/s00439-010-0928-y","article-title":"Potential Involvement of More than One Locus in Trait Manifestation for Individuals with Leber Congenital Amaurosis","volume":"129","author":"Wiszniewski","year":"2011","journal-title":"Hum. Genet."},{"key":"ref_90","doi-asserted-by":"crossref","unstructured":"Li, L., Xiao, X., Li, S., Jia, X., Wang, P., Guo, X., Jiao, X., Zhang, Q., and Hejtmancik, J.F. (2011). Detection of Variants in 15 Genes in 87 Unrelated Chinese Patients with Leber Congenital Amaurosis. PLoS ONE, 6.","DOI":"10.1371\/journal.pone.0019458"},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1016\/j.ajo.2024.06.013","article-title":"Clinical and Molecular Characterization of AIPL1-Associated Leber Congenital Amaurosis\/Early-Onset Severe Retinal Dystrophy","volume":"266","author":"Zhang","year":"2024","journal-title":"Am. J. Ophthalmol."},{"key":"ref_92","doi-asserted-by":"crossref","unstructured":"Huang, H., Chen, Y., Chen, H., Ma, Y., Chiang, P.W., Zhong, J., Liu, X., Wu, J., and Su, Y. (2018). Systematic Evaluation of a Targeted Gene Capture Sequencing Panel for Molecular Diagnosis of Retinitis Pigmentosa. PLoS ONE, 13.","DOI":"10.1371\/journal.pone.0185237"},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"5618","DOI":"10.1167\/iovs.10-6543","article-title":"Evaluation of Italian Patients with Leber Congenital Amaurosis Due to AIPL1 Mutations Highlights the Potential Applicability of Gene Therapy","volume":"52","author":"Testa","year":"2011","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"8166","DOI":"10.1167\/iovs.11-8298","article-title":"Residual Electroretinograms in Young Leber Congenital Amaurosis Patients with Mutations of AIPL1","volume":"52","author":"Pennesi","year":"2011","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_95","doi-asserted-by":"crossref","unstructured":"Sahli, E., \u00c7avdarl\u0131, B., Kiziltunc, P.B., and Atilla, H. (2025). Clinical and Genetic Profile of Patients with Leber\u2019s Congenital Amaurosis. Acta Ophthalmol. (Copenh.), 103.","DOI":"10.1111\/aos.16928"},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"112","DOI":"10.12998\/wjcc.v3.i2.112","article-title":"Review and Update on the Molecular Basis of Leber Congenital Amaurosis","volume":"3","author":"Zenteno","year":"2015","journal-title":"World J. Clin. Cases"},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1016\/j.molbrainres.2004.10.011","article-title":"Retinal Degeneration in Aipl1-Deficient Mice: A New Genetic Model of Leber Congenital Amaurosis","volume":"132","author":"Dyer","year":"2004","journal-title":"Mol. Brain Res."},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"8322","DOI":"10.1073\/pnas.88.19.8322","article-title":"Identification of a Nonsense Mutation in the Rod Photoreceptor cGMP Phosphodiesterase Beta-Subunit Gene of the Rd Mouse","volume":"88","author":"Pittler","year":"1991","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1016\/1350-9462(94)90004-3","article-title":"The Rd Mouse Story: Seventy Years of Research on an Animal Model of Inherited Retinal Degeneration","volume":"13","author":"Farber","year":"1994","journal-title":"Prog. Retin. Eye Res."},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"4644","DOI":"10.1167\/iovs.12-9611","article-title":"Long-Term Characterization of Retinal Degeneration in Rd1 and Rd10 Mice Using Spectral Domain Optical Coherence Tomography","volume":"53","author":"Pennesi","year":"2012","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1038\/ng0693-130","article-title":"Recessive Mutations in the Gene Encoding the \u03b2\u2013Subunit of Rod Phosphodiesterase in Patients with Retinitis Pigmentosa","volume":"4","author":"McLaughlin","year":"1993","journal-title":"Nat. Genet."},{"key":"ref_102","first-page":"89","article-title":"Biochemical Function of the LCA Linked Protien, Aryl Hydrocarbon Receptor Interacting Protein Like-1 (AIPL1). Role of AIPL1 in Retina","volume":"6","author":"Schwartz","year":"2007","journal-title":"Adv. Exp. Med. Biol."},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1016\/j.ajhg.2009.06.016","article-title":"Homozygosity Mapping Reveals PDE6C Mutations in Patients with Early-Onset Cone Photoreceptor Disorders","volume":"85","author":"Thiadens","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"ref_104","first-page":"164","article-title":"Mechanistic Studies of AIPL1-Rod cGMP Phosphodiesterase (PDE6) Interaction","volume":"49","author":"Liu","year":"2008","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_105","first-page":"2317","article-title":"Screening of NUB1 in Patients With Leber Congenital Amaurosis","volume":"44","author":"Preising","year":"2003","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"642","DOI":"10.1016\/j.molonc.2014.01.007","article-title":"NF\u03baB and STAT3 Synergistically Activate the Expression of FAT10, a Gene Counteracting the Tumor Suppressor P53","volume":"8","author":"Choi","year":"2014","journal-title":"Mol. Oncol."},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1016\/j.exer.2013.03.015","article-title":"Phosphodiesterase Inhibition Induces Retinal Degeneration, Oxidative Stress and Inflammation in Cone-Enriched Cultures of Porcine Retina","volume":"111","author":"Sequedo","year":"2013","journal-title":"Exp. Eye Res."},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"S28","DOI":"10.1038\/sj.ijir.3901212","article-title":"Characteristics of Photoreceptor PDE (PDE6): Similarities and Differences to PDE5","volume":"16","author":"Cote","year":"2004","journal-title":"Int. J. Impot. Res."},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1006\/exer.2002.1155","article-title":"Cell Death in Retinitis Pigmentosa: Gap Junctions and the \u2018Bystander\u2019 Effect","volume":"74","author":"Ripps","year":"2002","journal-title":"Exp. Eye Res."},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1002\/bies.20382","article-title":"Why Photoreceptors Die (and Why They Don\u2019t)","volume":"28","author":"Fain","year":"2006","journal-title":"BioEssays"},{"key":"ref_111","doi-asserted-by":"crossref","unstructured":"Newton, F., and Megaw, R. (2020). Mechanisms of Photoreceptor Death in Retinitis Pigmentosa. Genes, 11.","DOI":"10.3390\/genes11101120"},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"2299","DOI":"10.1093\/hmg\/ddx121","article-title":"Two Pathways of Rod Photoreceptor Cell Death Induced by Elevated cGMP","volume":"26","author":"Wang","year":"2017","journal-title":"Hum. Mol. Genet."},{"key":"ref_113","doi-asserted-by":"crossref","unstructured":"Arango-Gonzalez, B., Trifunovi\u0107, D., Sahaboglu, A., Kranz, K., Michalakis, S., Farinelli, P., Koch, S., Koch, F., Cottet, S., and Janssen-Bienhold, U. (2014). Identification of a Common Non-Apoptotic Cell Death Mechanism in Hereditary Retinal Degeneration. PLoS ONE, 9.","DOI":"10.1371\/journal.pone.0112142"},{"key":"ref_114","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1007\/s12035-008-8045-9","article-title":"Photoreceptor Cell Death Mechanisms in Inherited Retinal Degeneration","volume":"38","author":"Kustermann","year":"2008","journal-title":"Mol. Neurobiol."},{"key":"ref_115","doi-asserted-by":"crossref","first-page":"14598","DOI":"10.1073\/pnas.1206937109","article-title":"Receptor Interacting Protein Kinase Mediates Necrotic Cone but Not Rod Cell Death in a Mouse Model of Inherited Degeneration","volume":"109","author":"Murakami","year":"2012","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_116","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1016\/j.bbadis.2004.06.012","article-title":"Purification, Characterisation and Intracellular Localisation of Aryl Hydrocarbon Interacting Protein-like 1 (AIPL1) and Effects of Mutations Associated with Inherited Retinal Dystrophies","volume":"1690","author":"Gallon","year":"2004","journal-title":"Biochim. Biophys. Acta BBA-Mol. Basis Dis."},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"2164","DOI":"10.1093\/hmg\/ddt613","article-title":"Hsp90 Inhibition Protects against Inherited Retinal Degeneration","volume":"23","author":"Aguila","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"ref_118","doi-asserted-by":"crossref","unstructured":"Alibrandi, S., Scimone, C., Abate, G., Scalinci, S.Z., Sidoti, A., and Donato, L. (2025). Computational Evidence for Digenic Contribution of AIPL1 and BBS2 Rare Variants in Inherited Retinal Dystrophy. Int. J. Mol. Sci., 26.","DOI":"10.3390\/ijms26199430"},{"key":"ref_119","doi-asserted-by":"crossref","unstructured":"Wang, L., Zhang, J., Chen, N., Wang, L., Zhang, F., Ma, Z., Li, G., and Yang, L. (2018). Application of Whole Exome and Targeted Panel Sequencing in the Clinical Molecular Diagnosis of 319 Chinese Families with Inherited Retinal Dystrophy And. Genes, 9.","DOI":"10.3390\/genes9070360"},{"key":"ref_120","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1038\/gim.2014.138","article-title":"Genotype\u2013Phenotype Correlation and Mutation Spectrum in a Large Cohort of Patients with Inherited Retinal Dystrophy Revealed by next-Generation Sequencing","volume":"17","author":"Huang","year":"2015","journal-title":"Genet. Med."},{"key":"ref_121","doi-asserted-by":"crossref","first-page":"3642","DOI":"10.1167\/iovs.14-15972","article-title":"Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort","volume":"56","author":"Wang","year":"2015","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_122","doi-asserted-by":"crossref","first-page":"876","DOI":"10.1089\/dna.2014.2554","article-title":"Genome-Wide Homozygosity Mapping in Families with Leber Congenital Amaurosis Identifies Mutations in AIPL1 and RDH12 Genes","volume":"33","author":"Tarlan","year":"2014","journal-title":"DNA Cell Biol."},{"key":"ref_123","doi-asserted-by":"crossref","first-page":"932","DOI":"10.1136\/bjophthalmol-2019-314281","article-title":"Genetic and Clinical Findings in a Chinese Cohort with Leber Congenital Amaurosis and Early Onset Severe Retinal Dystrophy","volume":"104","author":"Xu","year":"2020","journal-title":"Br. J. Ophthalmol."},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"E1709","DOI":"10.1002\/humu.21336","article-title":"Genetic Screening of LCA in Belgium: Predominance of CEP290 and Identification of Potential Modifier Alleles in AHI1 of CEP290-Related Phenotypes","volume":"31","author":"Coppieters","year":"2010","journal-title":"Hum. Mutat."},{"key":"ref_125","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1097\/00006982-200510000-00016","article-title":"Evaluation of Genotype\u2013Phenotype Associations in Leber Congenital Amaurosis","volume":"25","author":"Galvin","year":"2005","journal-title":"Retina"},{"key":"ref_126","first-page":"1","article-title":"AIPL1 Implicated in the Pathogenesis of Two Cases of Autosomal Recessive Retinal Degeneration","volume":"20","author":"Li","year":"2014","journal-title":"Mol. Vis."},{"key":"ref_127","doi-asserted-by":"crossref","unstructured":"Rashid, M., Qasim Id, M., Ishaq, R., Bukhari, S.A., Sajid, Z., Ashfaq, U.A., Haque, A., and Ahmed, Z.M. (2020). Pathogenic Variants of AIPL1, MERTK, GUCY2D, and FOXE3 in Pakistani Families with Clinically Heterogeneous Eye Diseases. PLoS ONE, 15.","DOI":"10.1371\/journal.pone.0239748"},{"key":"ref_128","doi-asserted-by":"crossref","first-page":"862","DOI":"10.1016\/j.ophtha.2014.11.019","article-title":"Preserved Outer Retina in AIPL1 Leber\u2019s Congenital Amaurosis: Implications for Gene Therapy","volume":"122","author":"Aboshiha","year":"2015","journal-title":"Ophthalmology"},{"key":"ref_129","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1016\/j.ajo.2024.06.014","article-title":"Update on \u201cCell Therapy\u201d Clinics Offering Treatments of Ocular Conditions Using Direct-To-Consumer Marketing Websites in the US","volume":"267","author":"Kalavar","year":"2024","journal-title":"Am. J. Ophthalmol."},{"key":"ref_130","first-page":"1429","article-title":"Molecular Characterization of Leber Congenital Amaurosis in Koreans","volume":"14","author":"Seong","year":"2008","journal-title":"Mol. Vis."},{"key":"ref_131","doi-asserted-by":"crossref","unstructured":"Zobor, D., Br\u00fchwiler, B., Zrenner, E., Weisschuh, N., and Kohl, S. (2023). Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort. Int. J. Mol. Sci., 24.","DOI":"10.3390\/ijms24108915"},{"key":"ref_132","doi-asserted-by":"crossref","first-page":"3087","DOI":"10.1016\/j.visres.2003.08.008","article-title":"Analysis of Three Genes in Leber Congenital Amaurosis in Indonesian Patients","volume":"43","author":"Sitorus","year":"2003","journal-title":"Vision Res."},{"key":"ref_133","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1016\/S0014-4835(02)00304-4","article-title":"Mutation Screening of Pakistani Families with Congenital Eye Disorders","volume":"76","author":"Khaliq","year":"2003","journal-title":"Exp. Eye Res."},{"key":"ref_134","unstructured":"Dev Borman, A. (2016). A Genotype-Phenotype Study of Childhood Onset Retinal Dystrophies. [Ph.D. Thesis, University College London]."},{"key":"ref_135","doi-asserted-by":"crossref","first-page":"13187","DOI":"10.1038\/srep13187","article-title":"Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies","volume":"5","author":"Beryozkin","year":"2015","journal-title":"Sci. Rep."},{"key":"ref_136","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1080\/13816810.2019.1666878","article-title":"A New Novel Nonsense Mutation in AIPL1 in a LCA4 Family","volume":"40","author":"Wan","year":"2019","journal-title":"Ophthalmic Genet."},{"key":"ref_137","doi-asserted-by":"crossref","first-page":"3029","DOI":"10.1007\/s00417-024-06450-9","article-title":"Clinical and Genetic Studies for a Cohort of Patients with Leber Congenital Amaurosis","volume":"262","author":"Zhou","year":"2024","journal-title":"Graefes Arch. Clin. Exp. Ophthalmol."},{"key":"ref_138","doi-asserted-by":"crossref","first-page":"5426","DOI":"10.1038\/s41598-020-62047-2","article-title":"Retinal Organoids Derived from hiPSCs of an AIPL1-LCA Patient Maintain Cytoarchitecture despite Reduced Levels of Mutant AIPL1","volume":"10","author":"Lukovic","year":"2020","journal-title":"Sci. Rep."},{"key":"ref_139","doi-asserted-by":"crossref","unstructured":"Weisschuh, N., Feldhaus, B., Khan, M.I., Cremers, F.P.M., Kohl, S., Wissinger, B., and Zobor, D. (2018). Molecular and Clinical Analysis of 27 German Patients with Leber Congenital Amaurosis. PLoS ONE, 13.","DOI":"10.1101\/428177"},{"key":"ref_140","doi-asserted-by":"crossref","first-page":"1219","DOI":"10.1038\/s41598-018-38007-2","article-title":"Molecular Genetic Analysis Using Targeted NGS Analysis of 677 Individuals with Retinal Dystrophy","volume":"9","author":"Jespersgaard","year":"2019","journal-title":"Sci. Rep."},{"key":"ref_141","unstructured":"Tan, M.H. (2011). Development of Gene Therapy for the Treatment of Retinal Dystrophies Caused by Mutations in AIPL1, University College London."},{"key":"ref_142","doi-asserted-by":"crossref","first-page":"5684","DOI":"10.1167\/iovs.07-0207","article-title":"An Assessment of the Apex Microarray Technology in Genotyping Patients with Leber Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy","volume":"48","author":"Henderson","year":"2007","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_143","first-page":"1081","article-title":"Identification of AIPL1 Gene Variants in Two Chinese Families with Cone-Rod Dystrophy","volume":"36","author":"Wang","year":"2019","journal-title":"Honghua Yi Xue Yi Chuan Xue Za Zhi"},{"key":"ref_144","doi-asserted-by":"crossref","first-page":"2187","DOI":"10.1016\/j.stemcr.2022.08.005","article-title":"Investigation of PTC124-Mediated Translational Readthrough in a Retinal Organoid Model of AIPL1-Associated Leber Congenital Amaurosis","volume":"17","author":"Leung","year":"2022","journal-title":"Stem Cell Rep."},{"key":"ref_145","doi-asserted-by":"crossref","first-page":"3052","DOI":"10.1167\/iovs.05-0111","article-title":"Genotyping Microarray (Disease Chip) for Leber Congenital Amaurosis: Detection of Modifier Alleles","volume":"46","author":"Zernant","year":"2005","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_146","doi-asserted-by":"crossref","first-page":"4284","DOI":"10.1167\/iovs.07-0068","article-title":"Clinical and Molecular Genetics of Leber\u2019s Congenital Amaurosis: A Multicenter Study of Italian Patients","volume":"48","author":"Simonelli","year":"2007","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_147","doi-asserted-by":"crossref","first-page":"1071","DOI":"10.1038\/ejhg.2015.241","article-title":"Comprehensive Genotyping Reveals RPE65 as the Most Frequently Mutated Gene in Leber Congenital Amaurosis in Denmark","volume":"24","author":"Astuti","year":"2015","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_148","doi-asserted-by":"crossref","first-page":"2608","DOI":"10.1167\/iovs.09-3734","article-title":"Differential Macular Morphology in Patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-Related Leber Congenital Amaurosis","volume":"51","author":"Pasadhika","year":"2010","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_149","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1016\/S0008-4182(01)80018-1","article-title":"Leber\u2019s Congenital Amaurosis with Anterior Keratoconus in Pakistani Families Is Caused by the Trp278X Mutation in the AIPL1 Gene on 17p","volume":"36","author":"Damji","year":"2001","journal-title":"Can. J. Ophthalmol."},{"key":"ref_150","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1001\/archophthalmol.2010.309","article-title":"Genotype-Phenotype Correlation for Leber Congenital Amaurosis in Northern Pakistan","volume":"128","author":"McKibbin","year":"2010","journal-title":"Arch. Ophthalmol."},{"key":"ref_151","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1080\/15513815.2019.1644687","article-title":"A Novel AIPL1 Nonsense Mutation: Case Report of Three Siblings Diagnosed with Leber Congenital Amaurosis","volume":"39","author":"Gumus","year":"2020","journal-title":"Fetal Pediatr. Pathol."},{"key":"ref_152","doi-asserted-by":"crossref","first-page":"1179","DOI":"10.1007\/s12325-021-02036-7","article-title":"Epidemiology of Mutations in the 65-kDa Retinal Pigment Epithelium (RPE65) Gene-Mediated Inherited Retinal Dystrophies: A Systematic Literature Review","volume":"39","author":"Sallum","year":"2022","journal-title":"Adv. Ther."},{"key":"ref_153","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1002\/humu.20010","article-title":"Leber Congenital Amaurosis: Comprehensive Survey of the Genetic Heterogeneity, Refinement of the Clinical Definition, and Genotype-Phenotype Correlations as a Strategy for Molecular Diagnosis","volume":"23","author":"Hanein","year":"2004","journal-title":"Hum. Mutat."},{"key":"ref_154","doi-asserted-by":"crossref","first-page":"980","DOI":"10.1136\/bjo.87.8.980","article-title":"An Unusual Retinal Vascular Morphology in Connection with a Novel AIPL1 Mutation in Leber\u2019s Congenital Amaurosis","volume":"87","author":"Heegaard","year":"2003","journal-title":"Br. J. Ophthalmol."},{"key":"ref_155","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1111\/cge.13159","article-title":"Genetic Profile and Mutation Spectrum of Leber Congenital Amaurosis in a Larger Indian Cohort Using High Throughput Targeted Re-Sequencing","volume":"93","author":"Srikrupa","year":"2018","journal-title":"Clin. Genet."},{"key":"ref_156","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1002\/humu.9485","article-title":"Spectrum of NPHP6\/CEP290 Mutations in Leber Congenital Amaurosis and Delineation of the Associated Phenotype","volume":"28","author":"Perrault","year":"2007","journal-title":"Hum. Mutat."},{"key":"ref_157","doi-asserted-by":"crossref","first-page":"556","DOI":"10.1086\/507318","article-title":"Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis","volume":"79","author":"Hollander","year":"2006","journal-title":"Am. J. Hum. Genet."},{"key":"ref_158","doi-asserted-by":"crossref","first-page":"5136","DOI":"10.1093\/hmg\/ddt367","article-title":"Non-Exomic and Synonymous Variants in ABCA4 Are an Important Cause of Stargardt Disease","volume":"22","author":"Braun","year":"2013","journal-title":"Hum. Mol. Genet."},{"key":"ref_159","doi-asserted-by":"crossref","first-page":"1167","DOI":"10.1167\/iovs.05-0848","article-title":"Microarray-Based Mutation Detection and Phenotypic Characterization of Patients with Leber Congenital Amaurosis","volume":"47","author":"Yzer","year":"2006","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_160","doi-asserted-by":"crossref","unstructured":"Tatour, Y., and Ben-Yosef, T. (2020). Syndromic Inherited Retinal Diseases: Genetic, Clinical and Diagnostic Aspects. Diagnostics, 10.","DOI":"10.3390\/diagnostics10100779"},{"key":"ref_161","doi-asserted-by":"crossref","first-page":"1035","DOI":"10.1038\/ng.2356","article-title":"Mutations in NMNAT1 Cause Leber Congenital Amaurosis and Identify a New Disease Pathway for Retinal Degeneration","volume":"44","author":"Koenekoop","year":"2012","journal-title":"Nat. Genet."},{"key":"ref_162","doi-asserted-by":"crossref","first-page":"100827","DOI":"10.1016\/j.preteyeres.2019.100827","article-title":"Progress in Treating Inherited Retinal Diseases: Early Subretinal Gene Therapy Clinical Trials and Candidates for Future Initiatives","volume":"77","author":"Garafalo","year":"2020","journal-title":"Prog. Retin. Eye Res."},{"key":"ref_163","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1006\/exer.1996.0020","article-title":"ARPE-19, A Human Retinal Pigment Epithelial Cell Line with Differentiated Properties","volume":"62","author":"Dunn","year":"1996","journal-title":"Exp. Eye Res."},{"key":"ref_164","doi-asserted-by":"crossref","first-page":"13761","DOI":"10.1038\/s41598-019-50324-8","article-title":"Characterization of Artificially Re-Pigmented ARPE-19 Retinal Pigment Epithelial Cell Model","volume":"9","author":"Hellinen","year":"2019","journal-title":"Sci. Rep."},{"key":"ref_165","first-page":"3744","article-title":"Effects of Culture Medium and Surface Coatings on RPE Cell Differentiation","volume":"54","author":"Nommiste","year":"2013","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_166","first-page":"135","article-title":"Response of Human Retinal Pigment Epithelial Cells to the Effect of the Conditioned Media of Newt Retinal Regenerates","volume":"15","author":"Shafei","year":"2021","journal-title":"Tsitologiya"},{"key":"ref_167","first-page":"1701","article-title":"The Expression of Retinal Cell Markers in Human Retinal Pigment Epithelial Cells and Their Augmentation by the Synthetic Retinoid Fenretinide","volume":"17","author":"Carr","year":"2011","journal-title":"Mol. Vis."},{"key":"ref_168","doi-asserted-by":"crossref","first-page":"972","DOI":"10.1046\/j.1471-4159.2003.01608.x","article-title":"Differentiation of Human Retinal Pigment Epithelial Cells into Neuronal Phenotype by N-(4-Hydroxyphenyl)Retinamide","volume":"84","author":"Chen","year":"2003","journal-title":"J. Neurochem."},{"key":"ref_169","doi-asserted-by":"crossref","unstructured":"Gurtsieva, D., Minskaia, E., Zhuravleva, S., Subcheva, E., Sakhibgaraeva, E., Brovin, A., Tumaev, A., and Karabelsky, A. (2024). Engineered AAV2.7m8 Serotype Shows Significantly Higher Transduction Efficiency of ARPE-19 and HEK293 Cell Lines Compared to AAV5, AAV8 and AAV9 Serotypes. Pharmaceutics, 16.","DOI":"10.3390\/pharmaceutics16010138"},{"key":"ref_170","doi-asserted-by":"crossref","first-page":"103987","DOI":"10.1016\/j.isci.2022.103987","article-title":"One-Step Induction of Photoreceptor-like Cells from Human iPSCs by Delivering Transcription Factors","volume":"25","author":"Otsuka","year":"2022","journal-title":"iScience"},{"key":"ref_171","doi-asserted-by":"crossref","unstructured":"Perdig\u00e3o, P.R.L., Ollington, B., Sai, H., Leung, A., Sacristan-Reviriego, A., and van der Spuy, J. (2023). Retinal Organoids from an AIPL1 CRISPR\/Cas9 Knockout Cell Line Successfully Recapitulate the Molecular Features of LCA4 Disease. Int. J. Mol. Sci., 24.","DOI":"10.3390\/ijms24065912"},{"key":"ref_172","first-page":"95","article-title":"Zebrafish Models of Inherited Retinal Dystrophies","volume":"6","author":"Perkins","year":"2022","journal-title":"J. Transl. Genet. Genom."},{"key":"ref_173","doi-asserted-by":"crossref","unstructured":"Iribarne, M., Hyde, D.R., and Masai, I. (2019). TNF\u03b1 Induces M\u00fcller Glia to Transition From Non-Proliferative Gliosis to a Regenerative Response in Mutant Zebrafish Presenting Chronic Photoreceptor Degeneration. Front. Cell Dev. Biol., 7.","DOI":"10.3389\/fcell.2019.00296"},{"key":"ref_174","doi-asserted-by":"crossref","first-page":"103006","DOI":"10.1016\/j.scr.2022.103006","article-title":"Restoring Vision and Rebuilding the Retina by M\u00fcller Glial Cell Reprogramming","volume":"66","author":"Agarwal","year":"2023","journal-title":"Stem Cell Res."},{"key":"ref_175","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1080\/13816810500374359","article-title":"The Mouse\u2019s Eye and Mfrp: Not Quite Human","volume":"25","author":"Sundin","year":"2005","journal-title":"Ophthalmic Genet."},{"key":"ref_176","doi-asserted-by":"crossref","first-page":"4569","DOI":"10.1093\/hmg\/ddr391","article-title":"Gene Therapy Using Self-Complementary Y733F Capsid Mutant AAV2\/8 Restores Vision in a Model of Early Onset Leber Congenital Amaurosis","volume":"20","author":"Ku","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"ref_177","doi-asserted-by":"crossref","first-page":"3081","DOI":"10.1167\/iovs.13-13728","article-title":"Early Alteration of Retinal Neurons in Aipl1\u2212\/\u2212 Animals","volume":"55","author":"Singh","year":"2014","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_178","doi-asserted-by":"crossref","first-page":"102470","DOI":"10.1016\/j.stemcr.2025.102470","article-title":"Human Cone Photoreceptor Transplantation Stimulates Remodeling and Restores Function in AIPL1 Model of End-Stage Leber Congenital Amaurosis","volume":"20","author":"Procyk","year":"2025","journal-title":"Stem Cell Rep."},{"key":"ref_179","doi-asserted-by":"crossref","unstructured":"Kharisova, C.B., Kitaeva, K.V., Solovyeva, V.V., Sufianov, A.A., Sufianova, G.Z., Akhmetshin, R.F., Bulgar, S.N., and Rizvanov, A.A. (2025). Looking to the Future of Viral Vectors in Ocular Gene Therapy: Clinical Review. Biomedicines, 13.","DOI":"10.3390\/biomedicines13020365"},{"key":"ref_180","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1007\/978-3-030-27378-1_16","article-title":"Gene and Cell Therapy for AIPL1-Associated Leber Congenital Amaurosis: Challenges and Prospects","volume":"1185","author":"Perdigao","year":"2019","journal-title":"Retinal Degenerative Diseases"},{"key":"ref_181","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1016\/j.preteyeres.2008.05.003","article-title":"Leber Congenital Amaurosis: Genes, Proteins and Disease Mechanisms","volume":"27","author":"Roepman","year":"2008","journal-title":"Prog. Retin. Eye Res."},{"key":"ref_182","doi-asserted-by":"crossref","first-page":"3","DOI":"10.3410\/B2-3","article-title":"Ocular Immune Privilege Introduction and Context","volume":"2","author":"Zhou","year":"2010","journal-title":"F1000 Biol. Rep."},{"key":"ref_183","doi-asserted-by":"crossref","first-page":"849","DOI":"10.1016\/S0140-6736(17)31868-8","article-title":"Efficacy and Safety of Voretigene Neparvovec (AAV2-hRPE65v2) in Patients with RPE65-Mediated Inherited Retinal Dystrophy: A Randomised, Controlled, Open-Label, Phase 3 Trial","volume":"390","author":"Russell","year":"2017","journal-title":"Lancet"},{"key":"ref_184","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1093\/hmg\/5.5.591","article-title":"Gene Transfer into the Mouse Retina Mediated by an Adeno-Associated Viral Vector","volume":"5","author":"Ali","year":"1996","journal-title":"Hum. Mol. Genet."},{"key":"ref_185","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1007\/978-1-4614-3209-8_86","article-title":"Advances in AAV Vector Development for Gene Therapy in the Retina","volume":"801","author":"Day","year":"2014","journal-title":"Adv. Exp. Med. Biol."},{"key":"ref_186","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1007\/978-3-031-27681-1_20","article-title":"AAV Serotypes and Their Suitability for Retinal Gene Therapy","volume":"1415","author":"Ebner","year":"2023","journal-title":"Adv. Exp. Med. Biol."},{"key":"ref_187","doi-asserted-by":"crossref","first-page":"5785","DOI":"10.1073\/pnas.1821000116","article-title":"AAV Cis-Regulatory Sequences Are Correlated with Ocular Toxicity","volume":"116","author":"Xiong","year":"2019","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_188","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1038\/s41576-019-0205-4","article-title":"Engineering Adeno-Associated Virus Vectors for Gene Therapy","volume":"21","author":"Li","year":"2020","journal-title":"Nat. Rev. Genet."},{"key":"ref_189","doi-asserted-by":"crossref","unstructured":"Galieva, A., Egorov, A., Malogolovkin, A., Brovin, A., and Karabelsky, A. (2024). RNA-Seq Analysis of Trans-Differentiated ARPE-19 Cells Transduced by AAV9-AIPL1 Vectors. Int. J. Mol. Sci., 25.","DOI":"10.3390\/ijms25010197"},{"key":"ref_190","doi-asserted-by":"crossref","first-page":"102148","DOI":"10.1016\/j.omtn.2024.102148","article-title":"Effective AAV-Mediated Gene Replacement Therapy in Retinal Organoids Modeling AIPL1-Associated LCA4","volume":"35","author":"Sai","year":"2024","journal-title":"Mol. Ther. Nucleic Acids"},{"key":"ref_191","unstructured":"(2025, December 04). MeiraGTx Reports Fourth Quarter and Full Year 2024 Financial and Operational Results and Recent Business Updates|MeiraGTx. Available online: https:\/\/investors.meiragtx.com\/news-releases\/news-release-details\/meiragtx-reports-fourth-quarter-and-full-year-2024-financial-and."},{"key":"ref_192","unstructured":"(2025, October 29). MeiraGTx Seeks UK Approval after Gene Therapy Restores Sight in Children Born Blind-Pharmaceutical Technology. Available online: https:\/\/www.pharmaceutical-technology.com\/news\/meiragtx-seeks-uk-approval-after-gene-therapy-restores-sight-in-children-born-blind\/."}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/26\/24\/12066\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,18]],"date-time":"2025-12-18T05:32:06Z","timestamp":1766035926000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/26\/24\/12066"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12,15]]},"references-count":192,"journal-issue":{"issue":"24","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["ijms262412066"],"URL":"https:\/\/doi.org\/10.3390\/ijms262412066","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,12,15]]}}}