Associated Papers
Rhodopsin molecular evolution from mouse to human phenylalanine 88 to leucine substitution enhances thermal stability and post-activation decay.
Wang F et al.
Scientific Reports, 2026
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
Insights into rhodopsin molecular evolution from mice with "humanized" Phe-88 to Leu substitution.
Wang F et al.
Research Square, 2025
Small-Molecule Ligands of Rhodopsin and Their Therapeutic Potential in Retina Degeneration.
Pashandi Z et al.
International Journal of Molecular Sciences, 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
In vivo adenine base editing ameliorates Rho-associated autosomal dominant retinitis pigmentosa.
Hu S et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025
Aggregation of the constitutively active K296E rhodopsin mutant contributes to retinal degeneration.
Vasudevan S et al.
Biorxiv : the Preprint Server for Biology, 2025
Phosphodiesterase 5 expression in photoreceptors rescues retinal degeneration induced by deregulation of membrane guanylyl cyclase.
Dizhoor AM et al.
The Journal of Biological Chemistry, 2025
Atypical Leber Hereditary Optic Neuropathy (LHON) Associated with a Novel MT-CYB:m.15309T>C(Ile188Thr) Variant.
Petrovic Pajic S et al.
Genes, 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
G protein-coupled receptor (GPCR) gene variants and human genetic disease.
Thompson MD et al.
Critical Reviews in Clinical Laboratory Sciences, 2024
The mechanism of genetically inherited night blindness.
Fain GL
Proceedings of the National Academy of Sciences of the United States of America, 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
Aggregation of rhodopsin mutants in mouse models of autosomal dominant retinitis pigmentosa.
Vasudevan S et al.
Nature Communications, 2024
Molecular mechanisms and evolutionary robustness of a color switch in proteorhodopsins.
Mao J et al.
Science Advances, 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
Correlation between the Serum Concentration of Vitamin A and Disease Severity in Patients Carrying p.G90D in RHO, the Most Frequent Gene Associated with Dominant Retinitis Pigmentosa: Implications for Therapy with Vitamin A.
Krašovec T et al.
International Journal of Molecular Sciences, 2023
Rhodopsin-associated retinal dystrophy: Disease mechanisms and therapeutic strategies.
Zhen F et al.
Frontiers in Neuroscience, 2023
Gene Therapy for Rhodopsin Mutations.
Lewin AS et al.
Cold Spring Harbor Perspectives in Medicine, 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
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
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
Differential Aggregation Properties of Mutant Human and Bovine Rhodopsin.
Vasudevan S et al.
Biochemistry, 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
Ligand channel in pharmacologically stabilized rhodopsin.
Mattle D et al.
Proceedings of the National Academy of Sciences of the United States of America, 2018
Phenotypic characterization of P23H and S334ter rhodopsin transgenic rat models of inherited retinal degeneration.
LaVail MM et al.
Experimental Eye Research, 2018
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 and molecular bases of rod photoreceptor morphogenesis and disease.
Wensel TG et al.
Progress in Retinal and Eye Research, 2016
Structural role of the T94I rhodopsin mutation in congenital stationary night blindness.
Singhal A et al.
Embo Reports, 2016
Characterization of Ribozymes Targeting a Congenital Night Blindness Mutation in Rhodopsin Mutation.
Conley SM et al.
Advances in Experimental Medicine and Biology, 2016
Phospholipid Bicelles Improve the Conformational Stability of Rhodopsin Mutants Associated with Retinitis Pigmentosa.
Dong X et al.
Biochemistry, 2015
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