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
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
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
Rhodopsin-associated retinal dystrophy: Disease mechanisms and therapeutic strategies.
Zhen F et al.
Frontiers in Neuroscience, 2023
CRISPR DNA Base Editing Strategies for Treating Retinitis Pigmentosa Caused by Mutations in Rhodopsin.
Kaukonen M et al.
Genes, 2022
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
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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Coupling of Human Rhodopsin to a Yeast Signaling Pathway Enables Characterization of Mutations Associated with Retinal Disease.
Scott BM et al.
Genetics, 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
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
Influence of Pathogenic Mutations on the Energetics of Translocon-Mediated Bilayer Integration of Transmembrane Helices.
Schlebach JP et al.
The Journal of Membrane Biology, 2015
Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.
Zeitz C et al.
Progress in Retinal and Eye Research, 2015
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
Insights into congenital stationary night blindness based on the structure of G90D rhodopsin.
Singhal A et al.
Embo Reports, 2013
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
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
The green-absorbing Drosophila Rh6 visual pigment contains a blue-shifting amino acid substitution that is conserved in vertebrates.
Salcedo E et al.
The Journal of Biological Chemistry, 2009
Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNB.
Zeitz C et al.
Investigative Ophthalmology & Visual Science, 2008
G protein-coupled receptors disrupted in human genetic disease.
Thompson MD et al.
Methods in Molecular Biology (clifton, N.j.), 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
Vertebrate opsins belonging to different classes vary in constitutively active properties resulting from salt-bridge mutations.
Nickle B et al.
Biochemistry, 2006
Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes.
Neidhardt J et al.
Investigative Ophthalmology & Visual Science, 2006
Structural origins of constitutive activation in rhodopsin: Role of the K296/E113 salt bridge.
Kim JM et al.
Proceedings of the National Academy of Sciences of the United States of America, 2004
The spectrum of human rhodopsin disease mutations through the lens of interspecific variation.
Briscoe AD et al.
Gene, 2004
Opsin activation as a cause of congenital night blindness.
Jin S et al.
Nature Neuroscience, 2003
Constitutively active G protein-coupled receptor mutants: implications on receptor function and drug action.
Cotecchia S et al.
Assay and Drug Development Technologies, 2003
Mutation in rod PDE6 linked to congenital stationary night blindness impairs the enzyme inhibition by its gamma-subunit.
Muradov KG et al.
Biochemistry, 2003
Slow binding of retinal to rhodopsin mutants G90D and T94D.
Gross AK et al.
Biochemistry, 2003
Characterization of rhodopsin congenital night blindness mutant T94I.
Gross AK et al.
Biochemistry, 2003
Unusual thermal and conformational properties of the rhodopsin congenital night blindness mutant Thr-94 --> Ile.
Ramon E et al.
The Journal of Biological Chemistry, 2003
The eye photoreceptor protein rhodopsin. Structural implications for retinal disease.
Garriga P et al.
Febs Letters, 2002
Constitutive "light" adaptation in rods from G90D rhodopsin: a mechanism for human congenital nightblindness without rod cell loss.
Sieving PA et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2001
Confronting complexity: the interlink of phototransduction and retinoid metabolism in the vertebrate retina.
McBee JK et al.
Progress in Retinal and Eye Research, 2001