Spontaneous activity of opsin apoprotein is a cause of Leber congenital amaurosis.
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Lentiviral gene transfer of RPE65 rescues survival and function of cones in a mouse model of Leber congenital amaurosisOpsin activation of transduction in the rods of dark-reared Rpe65 knockout miceHaploinsufficiency of RanBP2 is neuroprotective against light-elicited and age-dependent degeneration of photoreceptor neuronsCellular mechanisms underlying the pharmacological induction of phosphenesPharmacological and rAAV gene therapy rescue of visual functions in a blind mouse model of Leber congenital amaurosis.Retina, retinol, retinal and the natural history of vitamin A as a light sensorConstitutively active rhodopsin and retinal diseaseIdentification of a common non-apoptotic cell death mechanism in hereditary retinal degenerationCalcium homeostasis and cone signaling are regulated by interactions between calcium stores and plasma membrane ion channelsFunctional consequences of progressive cone dystrophy-associated mutations in the human cone photoreceptor cyclic nucleotide-gated channel CNGA3 subunitNonvisual light responses in the Rpe65 knockout mouse: rod loss restores sensitivity to the melanopsin system.Visual Cycle Modulation as an Approach toward Preservation of Retinal IntegrityMeckelin 3 is necessary for photoreceptor outer segment development in rat Meckel syndromeCalcium-induced calcium release contributes to synaptic release from mouse rod photoreceptorsEarly receptor current of wild-type and transducin knockout mice: photosensitivity and light-induced Ca2+ releaseRetinal pathways influence temporal niche.Human cone photoreceptor dependence on RPE65 isomeraseBax-induced apoptosis in Leber's congenital amaurosis: a dual role in rod and cone degeneration.A functional kinase homology domain is essential for the activity of photoreceptor guanylate cyclase 1Rpe65 as a modifier gene for inherited retinal degenerationDeletion of GRK1 causes retina degeneration through a transducin-independent mechanism.GAP-independent termination of photoreceptor light response by excess gamma subunit of the cGMP-phosphodiesterase.Phototransduction in mouse rods and cones.Intrinsically photosensitive retinal ganglion cells detect light with a vitamin A-based photopigment, melanopsinLeber congenital amaurosis due to RPE65 mutations and its treatment with gene therapyLecithin-retinol acyltransferase is essential for accumulation of all-trans-retinyl esters in the eye and in the liver.Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.Differential proteomics and functional research following gene therapy in a mouse model of Leber congenital amaurosisQLT091001, a 9-cis-retinal analog, is well-tolerated by retinas of mice with impaired visual cycles.Gene therapy rescues cone structure and function in the 3-month-old rd12 mouse: a model for midcourse RPE65 leber congenital amaurosisA novel form of transducin-dependent retinal degeneration: accelerated retinal degeneration in the absence of rod transducinCone opsin determines the time course of cone photoreceptor degeneration in Leber congenital amaurosis.Altered expression of β-galactosidase-1-like protein 3 (Glb1l3) in the retinal pigment epithelium (RPE)-specific 65-kDa protein knock-out mouse model of Leber's congenital amaurosisG protein-coupled receptor rhodopsin.Functional EF-hands in neuronal calcium sensor GCAP2 determine its phosphorylation state and subcellular distribution in vivo, and are essential for photoreceptor cell integrityThe significance of G protein-coupled receptor crystallography for drug discovery.Improvement in rod and cone function in mouse model of Fundus albipunctatus after pharmacologic treatment with 9-cis-retinal.Metabolism of carotenoids and retinoids related to vision.Mouse model of human RPE65 P25L hypomorph resembles wild type under normal light rearing but is fully resistant to acute light damage.Rescue of the Stargardt phenotype in Abca4 knockout mice through inhibition of vitamin A dimerization.
P2860
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P2860
Spontaneous activity of opsin apoprotein is a cause of Leber congenital amaurosis.
description
2003 nî lūn-bûn
@nan
2003年の論文
@ja
2003年学术文章
@wuu
2003年学术文章
@zh
2003年学术文章
@zh-cn
2003年学术文章
@zh-hans
2003年学术文章
@zh-my
2003年学术文章
@zh-sg
2003年學術文章
@yue
2003年學術文章
@zh-hant
name
Spontaneous activity of opsin apoprotein is a cause of Leber congenital amaurosis.
@en
Spontaneous activity of opsin apoprotein is a cause of Leber congenital amaurosis.
@nl
type
label
Spontaneous activity of opsin apoprotein is a cause of Leber congenital amaurosis.
@en
Spontaneous activity of opsin apoprotein is a cause of Leber congenital amaurosis.
@nl
prefLabel
Spontaneous activity of opsin apoprotein is a cause of Leber congenital amaurosis.
@en
Spontaneous activity of opsin apoprotein is a cause of Leber congenital amaurosis.
@nl
P2093
P356
P1433
P1476
Spontaneous activity of opsin apoprotein is a cause of Leber congenital amaurosis.
@en
P2093
Hae Yun Chung
Michael L Woodruff
T Michael Redmond
Zhongyan Wang
P2888
P304
P356
10.1038/NG1246
P407
P577
2003-09-21T00:00:00Z
P5875
P6179
1002130621