| Clinical and functional analyses of AIPL1 variants reveal mechanisms of pathogenicity linked to different forms of retinal degeneration. | Clinical and functional analyses of AIPL1 variants reveal mechanisms of pathogenicity linked to different forms of retinal degeneration.
Sacristan-Reviriego A, Le HM, Georgiou M, Meunier I, Bocquet B, Roux AF, Prodromou C, Bainbridge J, Michaelides M, van der Spuy J., Free PMC Article | 03/13/2021 |
| A Novel AIPL1 Nonsense Mutation: Case Report of Three Siblings Diagnosed with Leber Congenital Amaurosis. | A Novel AIPL1 Nonsense Mutation: Case Report of Three Siblings Diagnosed with Leber Congenital Amaurosis.
Gumus E, Ozgur A. | 01/30/2021 |
| Retinal Organoids derived from hiPSCs of an AIPL1-LCA Patient Maintain Cytoarchitecture despite Reduced levels of Mutant AIPL1. | Retinal Organoids derived from hiPSCs of an AIPL1-LCA Patient Maintain Cytoarchitecture despite Reduced levels of Mutant AIPL1.
Lukovic D, Artero Castro A, Kaya KD, Munezero D, Gieser L, Davó-Martínez C, Corton M, Cuenca N, Swaroop A, Ramamurthy V, Ayuso C, Erceg S., Free PMC Article | 11/28/2020 |
| Pathogenic variants of AIPL1, MERTK, GUCY2D, and FOXE3 in Pakistani families with clinically heterogeneous eye diseases. | Pathogenic variants of AIPL1, MERTK, GUCY2D, and FOXE3 in Pakistani families with clinically heterogeneous eye diseases.
Rashid M, Qasim M, Ishaq R, Bukhari SA, Sajid Z, Ashfaq UA, Haque A, Ahmed ZM., Free PMC Article | 11/21/2020 |
| This study sheds new light on the versatility of tetratricopeptide repeat domain (TPR) domains in protein folding by describing a novel TPR-protein binding partner, Pgamma, and revealing that this subunit imparts AIPL1 selectivity for its client. | Interaction of the tetratricopeptide repeat domain of aryl hydrocarbon receptor-interacting protein-like 1 with the regulatory Pγ subunit of phosphodiesterase 6.
Yadav RP, Boyd K, Yu L, Artemyev NO., Free PMC Article | 06/6/2020 |
| Mutation in the AIPL1 gene is associated with Leber congenital amaurosis 4. | A new novel nonsense mutation in AIPL1 in a LCA4 family.
Wan L, Xiang L, Wang H, Shi Y, Jiang D, Hao F, Huang L. | 05/16/2020 |
| Two novel compound heterozygous AIPL1 variants were detected in two patients with cone-rod dystrophy | [Identification of AIPL1 gene variants in two Chinese families with Cone-rod dystrophy].
Wang L, Hao P, Ying M, Han R, Wang Y, Gao J, Yuan X, Li X. | 11/23/2019 |
| AIPL1 functions as a photoreceptor-specific molecular co-chaperone that interacts specifically with the molecular chaperones HSP90 and HSP70 to facilitate the correct folding and assembly of the retinal cGMP phosphodiesterase (PDE6) holoenzyme. The absence of AIPL1 leads to a dramatic degeneration of rod and cone cells and a complete loss of any light-dependent electrical response. Review. | The Leber Congenital Amaurosis-Linked Protein AIPL1 and Its Critical Role in Photoreceptors.
Sacristan-Reviriego A, van der Spuy J. | 05/11/2019 |
| This review summarizes important recent advances in understanding the mechanisms underlying normal function of AIPL1 and the protein perturbations caused by pathogenic mutations | AIPL1: A specialized chaperone for the phototransduction effector.
Yadav RP, Artemyev NO., Free PMC Article | 06/16/2018 |
| findings offer critical insights into the mechanisms that underlie AIPL1 function in health and disease, and highlight the structural and functional diversity of the FKBPs | Unique structural features of the AIPL1-FKBP domain that support prenyl lipid binding and underlie protein malfunction in blindness.
Yadav RP, Gakhar L, Yu L, Artemyev NO., Free PMC Article | 05/26/2018 |
| Authors characterized the functional deficits of AIPL1 variations, some of which induce aberrant pre-mRNA AIPL1 splicing leading to the production of alternative AIPL1 isoforms and investigated the ability of the AIPL1 variants to mediate an interaction with HSP90 and modulate the rod cGMP PDE6 stability and activity. | 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, Bellingham J, Prodromou C, Boehm AN, Aichem A, Kumaran N, Bainbridge J, Michaelides M, van der Spuy J., Free PMC Article | 03/24/2018 |
| Findings suggest that AIPL1 function in retinal photoreceptor cells is not related to the role of EB proteins in microtubule dynamics or primary ciliogenesis, but their association may be related to a specific role in the retinal photoreceptors. | The Leber congenital amaurosis protein AIPL1 and EB proteins co-localize at the photoreceptor cilium.
Hidalgo-de-Quintana J, Schwarz N, Meschede IP, Stern-Schneider G, Powner MB, Morrison EE, Futter CE, Wolfrum U, Cheetham ME, van der Spuy J., Free PMC Article | 02/27/2016 |
| The authors established a transgenic mouse model for cone-rod dystrophy carrying human AIPL1 gene with deletion in the C-terminal proline-rich region. | Viral-mediated vision rescue of a novel AIPL1 cone-rod dystrophy model.
Ku CA, Chiodo VA, Boye SL, Hayes A, Goldberg AF, Hauswirth WW, Ramamurthy V., Free PMC Article | 07/25/2015 |
| Gene therapy based approach may be worthy of consideration in a small group of selected patients with preserved outer retinal structure in AIPL1 Leber's congenital amaurosis. | Preserved outer retina in AIPL1 Leber's congenital amaurosis: implications for gene therapy.
Aboshiha J, Dubis AM, van der Spuy J, Nishiguchi KM, Cheeseman EW, Ayuso C, Ehrenberg M, Simonelli F, Bainbridge JW, Michaelides M. | 06/20/2015 |
| Mutations in the AIPL1 and RDH12 genes associated with leber congenital amaurosis in two Turkish families. | Genome-wide homozygosity mapping in families with leber congenital amaurosis identifies mutations in AIPL1 and RDH12 genes.
Yücel-Yılmaz D, Tarlan B, Kıratlı H, Ozgül RK. | 01/31/2015 |
| In this chapter, using results obtained from multiple lines of animal models, we discuss the role for AIPL1 in photoreceptors. | AIPL1 protein and its indispensable role in cone photoreceptor function and survival.
Kolandaivelu S, Ramamurthy V. | 07/26/2014 |
| The unique proline-rich domain of AIPL1 is important for its chaperone function as its truncation severely affects the ability of AIPL1 to bind non-native proteins. | Unique proline-rich domain regulates the chaperone function of AIPL1.
Li J, Zoldak G, Kriehuber T, Soroka J, Schmid FX, Richter K, Buchner J. | 02/15/2014 |
| implicate FAT10 in retinal cell biology and Leber congenital amaurosis pathogenesis, and reveal a new role of AIPL1 in regulating the FAT10 pathway. | The inherited blindness protein AIPL1 regulates the ubiquitin-like FAT10 pathway.
Bett JS, Kanuga N, Richet E, Schmidtke G, Groettrup M, Cheetham ME, van der Spuy J., Free PMC Article | 08/4/2012 |
| Patients with mutations in AIPL1 may present with Leber congenital amaurosis and residual ERGs (electroretinography) characterized by slow insensitive scotopic responses. | Residual electroretinograms in young Leber congenital amaurosis patients with mutations of AIPL1.
Pennesi ME, Stover NB, Stone EM, Chiang PW, Weleber RG., Free PMC Article | 01/7/2012 |
| AIPL1-Leber congenital amaurosis (LCA), unlike some other forms of LCA with equally severe visual disturbance, shows profound loss of foveal as well as extrafoveal photoreceptors. | Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining.
Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka A, Roman AJ, Swider M, Schwartz SB, Banin E, Stone EM. | 02/12/2011 |
| Observational study of genetic testing. (HuGE Navigator) | Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
Booij JC, Bakker A, Kulumbetova J, Moutaoukil Y, Smeets B, Verheij J, Kroes HY, Klaver CC, van Schooneveld M, Bergen AA, Florijn RJ. | 12/5/2010 |
| AIPL1 is needed for the proper functioning and survival of cone photoreceptors. | The Leber congenital amaurosis protein, AIPL1, is needed for the viability and functioning of cone photoreceptor cells.
Kirschman LT, Kolandaivelu S, Frederick JM, Dang L, Goldberg AF, Baehr W, Ramamurthy V., Free PMC Article | 06/14/2010 |
| Variations of macular microstructures were observed among LCA (Leber congenital amaurosis) patients with different genotypes. | Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis.
Pasadhika S, Fishman GA, Stone EM, Lindeman M, Zelkha R, Lopez I, Koenekoop RK, Shahidi M., Free PMC Article | 05/31/2010 |
| AIPL1 may cooperate with both Hsp70 and Hsp90 within retina-specific chaperone heterocomplex, and specialized role of AIPL1 in photoreceptors may therefore be facilitated by these molecular chaperones. | The Leber congenital amaurosis protein AIPL1 functions as part of a chaperone heterocomplex.
Hidalgo-de-Quintana J, Evans RJ, Cheetham ME, van der Spuy J., Free PMC Article | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesMutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India.
Sundaresan P, Vijayalakshmi P, Thompson S, Ko AC, Fingert JH, Stone EM. The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations.
Dharmaraj S, Leroy BP, Sohocki MM, Koenekoop RK, Perrault I, Anwar K, Khaliq S, Devi RS, Birch DG, De Pool E, Izquierdo N, Van Maldergem L, Ismail M, Payne AM, Holder GE, Bhattacharya SS, Bird AC, Kaplan J, Maumenee IH. | 03/13/2008 |