AIPL1 Antibody

1. This review summarizes important recent advances in understanding the mechanisms underlying normal function of AIPL1 and the protein perturbations caused by pathogenic mutations PMID: 28939106
2. 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 PMID: 28739921
3. 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. PMID: 28973376
4. 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. PMID: 25799540
5. The authors established a transgenic mouse model for cone-rod dystrophy carrying human AIPL1 gene with deletion in the C-terminal proline-rich region. PMID: 25274777
6. 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. PMID: 25596619
7. Mutations in the AIPL1 and RDH12 genes associated with leber congenital amaurosis in two Turkish families. PMID: 25148430
8. In this chapter, using results obtained from multiple lines of animal models, we discuss the role for AIPL1 in photoreceptors. PMID: 24664679
9. 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. PMID: 23418749
10. Patients with mutations in AIPL1 may present with Leber congenital amaurosis and residual ERGs (electroretinography) characterized by slow insensitive scotopic responses. PMID: 21900377
11. 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. PMID: 20702822
12. AIPL1 is needed for the proper functioning and survival of cone photoreceptors. PMID: 20042464
13. Variations of macular microstructures were observed among LCA (Leber congenital amaurosis) patients with different genotypes. PMID: 19959640
14. Phenotype-genotype correlations of AIPL1-associated Leber's congenital amaurosis (LCA) PMID: 11548141
15. AIPL1 performs a function essential to the maintenance of rod photoreceptor function PMID: 11929855
16. The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1 in the retina. PMID: 12374762
17. Interacts with and aids in processing of farnesylated proteins in the retina. PMID: 14555765
18. interaction between NUB1 and AIPL1 is affected in patients with Leber congenital amaurosis PMID: 15081406
19. Plays role in cytosolic stability and/or nuclear transport of NUB1 during regulation of cell cyle during photoreceptor development. PMID: 15180275
20. The phenotype of LCA (Leber congenital amaurosis) in patients with AIPL1 mutations is relatively severe, with a maculopathy in most patients and keratoconus and cataract in a large subset. PMID: 15249368
21. Data show that aryl hydrocarbon receptor-interacting protein-like 1 (AIPL1) can modulate protein translocation and act in a chaperone-like manner and suggest that AIPL1 is an important modulator of NEDD8 ultimate buster protein 1 (NUB1) cellular function. PMID: 15347646
22. aryl hydrocarbon interacting protein-like 1 (AIPL1) mutations may have a role in inherited retinal dystrophies PMID: 15469903
23. 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. PMID: 18408180

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HGNC: 359

OMIM: 604392

KEGG: hsa:23746

STRING: 9606.ENSP00000370521

UniGene: Hs.279887