Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Retinoid-Isomerohydrolase

Das RPE65-Gen kodiert ein Enzym, welches an der Regeneration des Pigmentepithels der Retina beteiligt ist. Mutationen verursachen autosomal rezessive Lebersche kongenitale Amaurose Typ 2.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Lebersche kongenitale Amaurose 02
RPE65

Referenzen:

1.

Båvik CO et. al. (1992) Characterization of a plasma retinol-binding protein membrane receptor expressed in the retinal pigment epithelium.

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2.

Narfström K et. al. (1989) The Briard dog: a new animal model of congenital stationary night blindness.

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3.

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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4.

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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5.

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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6.

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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7.

Marlhens F et. al. (1997) Mutations in RPE65 cause Leber's congenital amaurosis.

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8.

Gu SM et. al. (1997) Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy.

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9.

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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10.

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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11.

Redmond TM et. al. (1998) Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle.

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12.

Grimm C et. al. (2000) Protection of Rpe65-deficient mice identifies rhodopsin as a mediator of light-induced retinal degeneration.

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13.

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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14.

Thompson DA et. al. (2000) Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.

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15.

Acland GM et. al. (2001) Gene therapy restores vision in a canine model of childhood blindness.

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16.

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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17.

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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18.

Felius J et. al. (2002) Clinical course and visual function in a family with mutations in the RPE65 gene.

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19.

Van Hooser JP et. al. (2002) Recovery of visual functions in a mouse model of Leber congenital amaurosis.

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20.

Rohrer B et. al. (2003) Correlation of regenerable opsin with rod ERG signal in Rpe65-/- mice during development and aging.

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21.

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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22.

Remé CE et. al. (2003) The dangers of seeing light in the dark.

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23.

Woodruff ML et. al. (2003) Spontaneous activity of opsin apoprotein is a cause of Leber congenital amaurosis.

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24.

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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25.

Xue L et. al. (2004) A palmitoylation switch mechanism in the regulation of the visual cycle.

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26.

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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27.

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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28.

Moiseyev G et. al. (2005) RPE65 is the isomerohydrolase in the retinoid visual cycle.

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29.

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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30.

Wenzel A et. al. (2007) RPE65 is essential for the function of cone photoreceptors in NRL-deficient mice.

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31.

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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32.

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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33.

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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Update: 26. September 2018