Recombinant Human Retinoid isomerohydrolase (RPE65)

1. Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants in two unrelated Japanese patients. PMID: 29681726
2. Autosomal dominant retinal dystrophy resembling choroideremia can arise from a heterozygous mutation in RPE65. It may manifest with mild disease or be non-penetrant. Awareness of these unusual presentations can facilitate targeted molecular investigation. PMID: 27307694
3. By using whole-exome sequencing analysis, three RPE65 mutations were identified in two Japanese patients with leber congenital amaurosis (LCA). This approach would be useful for identification of disease-causing mutations of LCA. PMID: 25495949
4. RPE65 variants are the most prevalent causes of Leber congenital amaurosis in Denmark. PMID: 26626312
5. Hypomorphic mutations of RPE65 are associated with mild disease in childhood with preservation of good visual acuity into adulthood; they may in rare cases be associated with a flecked retina appearance similar to fundus albipunctatus. PMID: 26906952
6. Influx of T lymphocytes was associated with retinal pigment epithelium and choroidal thinning and diminished expression of RPE65 mRNA, an essential enzyme of the visual cycle. PMID: 26392743
7. These data also help define minimal requirements of chromophore for photoreceptor survival in vivo and may be useful in assessing a beneficial therapeutic dose for RPE65 gene therapy in humans. PMID: 25972377
8. three Leber congenital amaurosis -associated RPE65 mutants (R91W, Y249C and R515W) undergo rapid proteasomal degradation mediated by the 26 S proteasome non-ATPase regulatory subunit 13. PMID: 25752820
9. Studies indicate that patients with retinol isomerase RPE65R91W mutation have useful cone-mediated vision in the first decade of life, suggesting partial activity of the mutant RPE65R91W protein. PMID: 26427430
10. Data show that 4-phenylbutyrate (PBA) displayed a significant synergistic effect on the low temperature-mediated rescue of the mutant isomerase activity of RPE65. PMID: 26427455
11. Expressions of MDSC, FOXP3+TILs, and CTLA-4 are relative stable after nCRT PMID: 26364624
12. We showed that miR-410 directly regulates predicted target genes OTX2 and RPE65. PMID: 25351180
13. Studies indicate that patients consistently reported improvement in their vision following delivery of recombinant adenoassociated virus (rAAV) that carried retinal pigment epithelium 65 protein (REP65) gene. PMID: 25286304
14. All RPE65-mutant observers have consistent and substantial losses in temporal acuity and sensitivity compared with normal observers. PMID: 25257057
15. when an amino-terminal fragment (Met(1)-Arg(33)) of the N170K/K297G double mutant of hRPE65 was replaced with the corresponding cRPE65 fragment, the isomerohydrolase activity was further increased to a level similar to that of cRPE65. PMID: 25112876
16. We identified a novel LCA-related homozygous RPE65 mutation associated with a severe clinical presentation including an early and severe cone dysfunction. PMID: 24771178
17. properties of disease causing RPE65 with regard to molecular pathogenic mechanism PMID: 24849605
18. These results strongly suggest that causal mutations in RPE65 are responsible for retinal dystrophy in the affected individuals of consanguineous Pakistani families. PMID: 23878505
19. These results indicate that the non-viral delivery of hRPE65 vectors can result in persistent, therapeutically efficacious gene expression in the retinal pigment epithelium . PMID: 23335596
20. the RPE65-LCA patients had higher variability in kinetic field extent. VA variability in RPE65-LCA fell within reported results for retinitis pigmentosa. PMID: 23341016
21. Compound heterozygous missense mutations in the RPE65 gene, Leu67Arg and Tyr368Cys, are related to a relatively mild Leber congenital amaurosis phenotype in Chinese patients. PMID: 22509104
22. Gene therapy for Leber congenital amaurosis caused by RPE65 mutations is sufficiently safe and substantially efficacious in the extrafoveal retina. PMID: 21911650
23. These data suggest that cone RPE65 supports human diurnal vision, potentially enhancing our strategies for treating Leber congenital amaurosis Type 2. PMID: 22171060
24. Dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement. PMID: 21654732
25. The structural features of the retina and retinal pigment epithelium in postmortem donor eyes of a 56-year-old patient with a homozygous missense RPE65 mutation correlate the pathology with the patient's visual function. PMID: 21931134
26. found that the aromatic lipophilic spin traps such as N-tert-butyl-alpha-phenylnitrone (PBN), 2,2-dimethyl-4-phenyl-2H-imidazole-1-oxide (DMPIO), and nitrosobenzene (NB) strongly inhibit RPE65 isomerohydrolase activity in vitro PMID: 21736383
27. This is the first reported association between compound heterozygous RPE65 mutations and fundus albipunctatus, indicative of a mutation-specific phenotypic effect in this gene. PMID: 21211845
28. To describe in detail the features of Severe Early Childhood Onset Retinal Dystrophy (SECORD) and differentiate it from Lebers congenital amaurosis, caused by RPE65 mutation. PMID: 20811047
29. Congenital loss of chromophore production due to RPE65-deficiency together with progressive photoreceptor degeneration cause severe and progressive loss of vision. PMID: 20399883
30. oxidative stress during the visual cycle results in cleavage of RPE65 PMID: 20510285
31. FATP1 inhibits 11-cis retinol formation via interaction with the visual cycle retinoid isomerase RPE65 and lecithin:retinol acyltransferase PMID: 20356843
32. Variations of macular microstructures were observed among LCA (Leber congenital amaurosis) patients with different genotypes. PMID: 19959640
33. Loss of charge at the E417Q position of RPE65 may represent a mechanism by which the E417Q mutation causes blindness in Leber congenital amaurosis patients. PMID: 20043869
34. Studies demonstrated improvements in rod and cone visual function in patients with RPE65-LCA administered rAAV2-CBSB-hRPE65. PMID: 19806502
35. RPE65 is not inherently 11-cis-specific and can produce both 11- and 13-cis isomers, supporting a carbocation (or radical cation) mechanism for isomerization. PMID: 19920137
36. retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively PMID: 11727200
37. RPE65 mutations present in compound heterozygous form cause severe visual compromise. PMID: 11786058
38. multiplex PCR follwed by sequencing to screen for mutations in the 14 exons of the RPE65 gene in early-childhood-onset autosomal recessive retinitis pigmentosa and Leber's congenital amaurosis patients PMID: 12357075
39. The RPE65 mutations K303X and Y431C in compound heterozygous form cause progressive visual compromise that starts in childhood and advances to severe visual loss by the fourth decade of life. PMID: 14962443
40. Gene therapy with this protein to cure Leber congenital amaurosis; Gene therapy in Rpe65(-/-) mice at advanced-disease stages show some success PMID: 15837919
41. conserved glutamic acid and histidine residues are essential for the isomerohydrolase activity of RPE65 and its stability PMID: 16198348
42. AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 mutations may have roles in juvenile retinitis pigmentosa PMID: 16272259
43. We identified and characterised an endemic form of early onset rod-cone dystrophy in a consanguineous population from northeastern Tunisia, due to the prevalence of a single RPE65 mutation. PMID: 16518657
44. mutations may result in critical structural alterations of RPE65 protein, disrupt its membrane association, and consequently impair its isomerohydrolase activity, leading to retinal degeneration PMID: 16754667
45. The results demand critical consideration of the human disease mechanism and the therapeutic approach in patients with mutations in the putative visual cycle gene RDH12. PMID: 17197551
46. Testing confirms the diagnosis at the molecular level and allows for a more precise prognosis of the possible future clinical evolution PMID: 17651254
47. RPE65 gene mutations represented a significant cause of LCA in the Italian population, whereas GUCY2D and CEP290 mutations had a lower frequency than that found in other reports. PMID: 17724218
48. Early cone photoreceptor losses in RPE65-LCA suggest that robust RPE65-based visual chromophore production is important for cones. PMID: 17848510
49. RPE65 from the cone-dominant chicken RPE possesses significantly higher specific retinol isomerohydrolase activity, when compared with RPE65 from rod-dominant species PMID: 18216020
50. Mutations in the RPE65 gene are rare in patients with leber congenital amaurosis PMID: 18484312

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HGNC: 10294

OMIM: 180069

KEGG: hsa:6121

STRING: 9606.ENSP00000262340

UniGene: Hs.2133