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RLBP1 gene geographical area-related mutation is associated with retinitis punctata albescens.
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we provide evidence for an allosteric modulation of the enzymatic activity by 11-cis retinoids. This regulation is independent from cellular retinaldehyde-binding protein (CRALBP), the major cis-retinoid binding protein.
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These results show that joint tests of main effects and gene-gene interaction reveal associations at some novel loci that were missed when considering main effects alone.
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We conclude that the expression of Rlbp1 and Rdh5 critically depends on functional Mitf in the RPE and suggest that MITF has an important role in controlling retinoid processing in the RPE.
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Different mutations in RLBP1 are correlated with quite different morphological and functional characteristics outlines the complexity of the protein.
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RLBP1 gene is upregulated in patients with reactive retinal astrocytic tumors.
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Patients with retinitis punctata albescens (RPA) show variable degrees of foveal cone death, even at an early stage. This finding has implications for future treatment.
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The two RLBP1 genotypes presented a phenotypical and electrophysiological expression of progressive retinal disease similar to that previously described in homozygotes for the c.700C>T (p.R234W) RLBP1 mutation.
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The clinical characteristics of a Japanese patient with a homozygous R234W mutation in RLBP1 are very similar to that of Swedish patients with Bothnia dystrophy.
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Identification of autoantibodies specific for two retinal antigens (CRALBP and S-Ag) supports the concept of an autoimmunological origin of the disease.
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The R234W mutation reveals impaired 11-cis-retinal release through stabilization of the ligand complex.
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mutations in RLBP1 are responsible for fundus albipunctatus in the affected individuals of these consanguineous Pakistani families.
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In the RLBP1-Bothnia dystrophy phenotype, a loss of function and thinning of the central macula are found, indicating early damage of the cone photoreceptors in this disease of the visual cycle.
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Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1
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the M225K mutation abolishes and the R233W mutation tightens retinoid binding and both impair CRALBP function in the visual cycle as an 11-cis-retinol acceptor and as a substrate carrier.
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Trp-165, Met-208, Met-222, Met-225, and Trp-244 are components of the CRALBP ligand binding cavity.
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Patients with a clinical presentation of RPA (retinitis punctata albescens) can have genetically different mutations.
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Only eight RLBP1 mutations have been reported to date, and here we describe two novel mutations.
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Cellular retinaldehyde binding protein 1 (CRALBP) inhibits the reduction of 11-cis-retinal stronger than the oxidation of 11-cis-retinol, in accord with its higher affinity for 11-cis-retinal.
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A novel mutation in RLBP1 gene was found in a Japanese patient with retinitis punctata albescens. Degenerative changes of the outer retina were detected by optical coherence tomography
