Retinoid isomerohydrolase
The RPE65 gene encodes an enzyme involved in regeneration of visual pigments in the retina. Mutations cause autosomal recessive Leber congenital amaurosis type 2.
Genetests:
Related Diseases:
References:
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Kondo H et al. (2004) A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers.
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Seeliger MW et al. (2001) New views on RPE65 deficiency: the rod system is the source of vision in a mouse model of Leber congenital amaurosis.
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Thompson DA et al. (2002) Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively.
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Felius J et al. (2002) Clinical course and visual function in a family with mutations in the RPE65 gene.
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Van Hooser JP et al. (2002) Recovery of visual functions in a mouse model of Leber congenital amaurosis.
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Rohrer B et al. (2003) Correlation of regenerable opsin with rod ERG signal in Rpe65-/- mice during development and aging.
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7. |
Remé CE et al. (2003) The dangers of seeing light in the dark.
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8. |
Woodruff ML et al. (2003) Spontaneous activity of opsin apoprotein is a cause of Leber congenital amaurosis.
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9. |
Xue L et al. (2004) A palmitoylation switch mechanism in the regulation of the visual cycle.
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10. |
Narfström K et al. (1989) The Briard dog: a new animal model of congenital stationary night blindness.
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11. |
Znoiko SL et al. (2005) Downregulation of cone-specific gene expression and degeneration of cone photoreceptors in the Rpe65-/- mouse at early ages.
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12. |
Moiseyev G et al. (2005) RPE65 is the isomerohydrolase in the retinoid visual cycle.
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13. |
Doyle SE et al. (2006) Nonvisual light responses in the Rpe65 knockout mouse: rod loss restores sensitivity to the melanopsin system.
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14. |
Wenzel A et al. (2007) RPE65 is essential for the function of cone photoreceptors in NRL-deficient mice.
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15. |
Samardzija M et al. (2008) R91W mutation in Rpe65 leads to milder early-onset retinal dystrophy due to the generation of low levels of 11-cis-retinal.
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16. |
Samardzija M et al. (2009) In conditions of limited chromophore supply rods entrap 11-cis-retinal leading to loss of cone function and cell death.
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17. |
Maeda T et al. (2009) Loss of cone photoreceptors caused by chromophore depletion is partially prevented by the artificial chromophore pro-drug, 9-cis-retinyl acetate.
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18. |
Thompson DA et al. (2000) Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.
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19. |
Gu SM et al. (1997) Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy.
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20. |
Wrigstad A et al. (1994) Slowly progressive changes of the retina and retinal pigment epithelium in Briard dogs with hereditary retinal dystrophy. A morphological study.
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21. |
Marlhens F et al. (1997) Mutations in RPE65 cause Leber's congenital amaurosis.
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22. |
Morimura H et al. (1998) Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis.
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23. |
Aguirre GD et al. (1998) Congenital stationary night blindness in the dog: common mutation in the RPE65 gene indicates founder effect.
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24. |
Yzer S et al. (2003) A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population.
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Al-Khayer K et al. (2004) Thirty-year follow-up of a patient with leber congenital amaurosis and novel RPE65 mutations.
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Båvik CO et al. (1992) Characterization of a plasma retinol-binding protein membrane receptor expressed in the retinal pigment epithelium.
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Nicoletti A et al. (1995) Molecular characterization of the human gene encoding an abundant 61 kDa protein specific to the retinal pigment epithelium.
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Hamel CP et al. (1994) The gene for the retinal pigment epithelium-specific protein RPE65 is localized to human 1p31 and mouse 3.
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29. |
Hamel CP et al. (1993) Molecular cloning and expression of RPE65, a novel retinal pigment epithelium-specific microsomal protein that is post-transcriptionally regulated in vitro.
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Redmond TM et al. (1998) Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle.
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Grimm C et al. (2000) Protection of Rpe65-deficient mice identifies rhodopsin as a mediator of light-induced retinal degeneration.
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Van Hooser JP et al. (2000) Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness.
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33. |
Acland GM et al. (2001) Gene therapy restores vision in a canine model of childhood blindness.
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NCBI article
NCBI 6121
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OMIM.ORG article
Omim 180069
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36. |
Orphanet article
Orphanet ID 118376
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Wikipedia article
Wikipedia EN (RPE65)
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Update: Aug. 14, 2020