Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

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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