Associated Papers
Geographic and Phenotypic Variability in RHO-Associated Retinopathy: Evidence From a Chinese Cohort and Global Literature.
Hang C et al.
American Journal of Ophthalmology, 2025
Structure of human green cone opsin yields insights into mechanisms underlying the rapid decay of its active, signaling state.
Yao W et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Aggregation of the Constitutively Active K296E Rhodopsin Mutant Contributes to Retinal Degeneration.
Vasudevan S et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2025
Aggregation of the constitutively active K296E rhodopsin mutant contributes to retinal degeneration.
Vasudevan S et al.
Biorxiv : the Preprint Server for Biology, 2025
Differential pathogenetic mechanisms of mutations in helix 2 and helix 6 of rhodopsin.
Bighinati A et al.
International Journal of Biological Macromolecules, 2024
RHO Variants and Autosomal Dominant Retinitis Pigmentosa: Insights from the Italian Genetic Landscape.
Trastulli G et al.
Genes, 2024
Dark continuous noise from mutant G90D-rhodopsin predominantly underlies congenital stationary night blindness.
Chai Z et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
Disease modeling and pharmacological rescue of autosomal dominant retinitis pigmentosa associated with RHO copy number variation.
Kandoi S et al.
Elife, 2024
Disease modeling and pharmacological rescue of autosomal dominant Retinitis Pigmentosa associated with RHO copy number variation.
Kandoi S et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Rhodopsin-associated retinal dystrophy: Disease mechanisms and therapeutic strategies.
Zhen F et al.
Frontiers in Neuroscience, 2023
Congenital Stationary Night Blindness: Clinical and Genetic Features.
Kim AH et al.
International Journal of Molecular Sciences, 2022
Molecular basis for variations in the sensitivity of pathogenic rhodopsin variants to 9-cis-retinal.
Roushar FJ et al.
The Journal of Biological Chemistry, 2022
CRISPR DNA Base Editing Strategies for Treating Retinitis Pigmentosa Caused by Mutations in Rhodopsin.
Kaukonen M et al.
Genes, 2022
FRET sensors reveal the retinal entry pathway in the G protein-coupled receptor rhodopsin.
Tian H et al.
Iscience, 2022
Dimeric Rhodopsin R135L Mutant-Transducin-like Complex Sheds Light on Retinitis Pigmentosa Misfunctions.
Guérin DMA et al.
The Journal of Physical Chemistry. B, 2021
Systematic profiling of temperature- and retinal-sensitive rhodopsin variants by deep mutational scanning.
McKee AG et al.
The Journal of Biological Chemistry, 2021
Variants identified by next-generation sequencing cause endoplasmic reticulum stress in Rhodopsin-associated retinitis pigmentosa.
Wang Y et al.
Bmc Ophthalmology, 2021
Structural aspects of rod opsin and their implication in genetic diseases.
Fanelli F et al.
Pflugers Archiv : European Journal of Physiology, 2021
Stationary and Progressive Phenotypes Caused by the p.G90D Mutation in Rhodopsin Gene.
Kobal N et al.
International Journal of Molecular Sciences, 2021
Disruption of Hydrogen-Bond Network in Rhodopsin Mutations Cause Night Blindness.
Katayama K et al.
Journal of Molecular Biology, 2020
A Conserved Proline Hinge Mediates Helix Dynamics and Activation of Rhodopsin.
Pope AL et al.
Structure (london, England : 1993), 2020
Light Dynamics of the Retinal-Disease-Relevant G90D Bovine Rhodopsin Mutant.
Kubatova N et al.
Angewandte Chemie (international Ed. in English), 2020
Retinal degeneration in mice expressing the constitutively active G90D rhodopsin mutant.
Colozo AT et al.
Human Molecular Genetics, 2020
Probing biophysical sequence constraints within the transmembrane domains of rhodopsin by deep mutational scanning.
Penn WD et al.
Science Advances, 2020
Characterizing variants of unknown significance in rhodopsin: A functional genomics approach.
Wan A et al.
Human Mutation, 2019
Heterozygous RHO p.R135W missense mutation in a large Han-Chinese family with retinitis pigmentosa and different refractive errors.
Wu Y et al.
Bioscience Reports, 2019
Coupling of Human Rhodopsin to a Yeast Signaling Pathway Enables Characterization of Mutations Associated with Retinal Disease.
Scott BM et al.
Genetics, 2019
Mks6 mutations reveal tissue- and cell type-specific roles for the cilia transition zone.
Lewis WR et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2019
The molecular and cellular basis of rhodopsin retinitis pigmentosa reveals potential strategies for therapy.
Athanasiou D et al.
Progress in Retinal and Eye Research, 2018
Target 5000: Target Capture Sequencing for Inherited Retinal Degenerations.
Dockery A et al.
Genes, 2017
Effects of Pathogenic Variations in the Human Rhodopsin Gene (hRHO) on the Predicted Accessibility for a Lead Candidate Ribozyme.
Froebel BR et al.
Investigative Ophthalmology & Visual Science, 2017
The mutation p.E113K in the Schiff base counterion of rhodopsin is associated with two distinct retinal phenotypes within the same family.
Reiff C et al.
Scientific Reports, 2016
Structural role of the T94I rhodopsin mutation in congenital stationary night blindness.
Singhal A et al.
Embo Reports, 2016
Biology and therapy of inherited retinal degenerative disease: insights from mouse models.
Veleri S et al.
Disease Models & Mechanisms, 2015
A truncated form of rod photoreceptor PDE6 β-subunit causes autosomal dominant congenital stationary night blindness by interfering with the inhibitory activity of the γ-subunit.
Manes G et al.
Plos One, 2014
Constitutively active rhodopsin and retinal disease.
Park PS
Advances in Pharmacology (san Diego, Calif.), 2014
Constitutively active rhodopsin mutants causing night blindness are effectively phosphorylated by GRKs but differ in arrestin-1 binding.
Vishnivetskiy SA et al.
Cellular Signalling, 2013
Insights into congenital stationary night blindness based on the structure of G90D rhodopsin.
Singhal A et al.
Embo Reports, 2013
[Mutation analysis of pathogenic genes in a Henan family affected with congenital stationary night blindness].
Wang FY et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2012
Model of Abnormal Chromophore-Protein Interaction for Е181К Rhodopsin Mutation: Computer Molecular Dynamics Study.
Feldman T et al.
The Open Biochemistry Journal, 2012
Analysis of disease-linked rhodopsin mutations based on structure, function, and protein stability calculations.
Rakoczy EP et al.
Journal of Molecular Biology, 2011
Molecular mechanisms of rhodopsin retinitis pigmentosa and the efficacy of pharmacological rescue.
Krebs MP et al.
Journal of Molecular Biology, 2010
1 rhodopsin mutations in congenital night blindness.
McAlear SD et al.
Advances in Experimental Medicine and Biology, 2010
Constitutive activation of G protein-coupled receptors and diseases: insights into mechanisms of activation and therapeutics.
Tao YX
Pharmacology & Therapeutics, 2008
Phenotype-genotype correlations in autosomal dominant retinitis pigmentosa caused by RHO, D190N.
Tsui I et al.
Current Eye Research, 2008
Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNB.
Zeitz C et al.
Investigative Ophthalmology & Visual Science, 2008
Atomistic insights into rhodopsin activation from a dynamic model.
Tikhonova IG et al.
Journal of the American Chemical Society, 2008
Comparison of the retinitis pigmentosa mutations in rhodopsin with a functional map of the C5a receptor.
Hagemann IS et al.
Vision Research, 2006
Light and inherited retinal degeneration.
Paskowitz DM et al.
The British Journal of Ophthalmology, 2006