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
A Survey of Opsin Localization, Glycosylation, and Light/Chromophore Influence on Degeneration in 26 Rhodopsin-Associated RP Models.
Loewen AD et al.
Investigative Ophthalmology & Visual Science, 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
P23H rhodopsin accumulation causes transient disruptions to synaptic protein levels in rod photoreceptors in a model of retinitis pigmentosa.
Thompson SL et al.
Disease Models & Mechanisms, 2025
A comprehensive map of missense trafficking variants in rhodopsin and their response to pharmacologic correction.
Manian KV et al.
Biorxiv : the Preprint Server for Biology, 2025
Discovery of non-retinoid compounds that suppress the pathogenic effects of misfolded rhodopsin in a mouse model of retinitis pigmentosa.
Ortega JT et al.
Plos Biology, 2025
Expanding the Mutation Spectrum for Inherited Retinal Diseases.
Lynn J et al.
Genes, 2024
P23H rhodopsin aggregation in the ER causes synaptic protein imbalance in rod photoreceptors.
Thompson SL et al.
Biorxiv : the Preprint Server for Biology, 2024
RHO Variants and Autosomal Dominant Retinitis Pigmentosa: Insights from the Italian Genetic Landscape.
Trastulli G et al.
Genes, 2024
Modeling autosomal dominant retinitis pigmentosa by using patient-specific retinal organoids with a class-3 RHO mutation.
Lin X et al.
Experimental Eye Research, 2024
Antisense oligonucleotide therapy for proline-23-histidine autosomal dominant retinitis pigmentosa.
Justin GA et al.
Current Opinion in Ophthalmology, 2023
Rhodopsin-associated retinal dystrophy: Disease mechanisms and therapeutic strategies.
Zhen F et al.
Frontiers in Neuroscience, 2023
Overexpression of Rhodopsin or Its Mutants Leads to Energy Metabolism Dysfunction in 661w Cells.
Liu Y et al.
Investigative Ophthalmology & Visual Science, 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
Genetic, environmental and other risk factors for progression of retinitis pigmentosa.
Huang ZY et al.
International Journal of Ophthalmology, 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
Pharmacological Inhibition of the VCP/Proteasome Axis Rescues Photoreceptor Degeneration in RHOP23H Rat Retinal Explants.
Sen M et al.
Biomolecules, 2021
Allele-specific editing ameliorates dominant retinitis pigmentosa in a transgenic mouse model.
Patrizi C et al.
American Journal of Human Genetics, 2021
Therapy in Rhodopsin-Mediated Autosomal Dominant Retinitis Pigmentosa.
Meng D et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2020
Disease asymmetry and hyperautofluorescent ring shape in retinitis pigmentosa patients.
Jauregui R et al.
Scientific Reports, 2020
Widefield Swept Source OCTA in Retinitis Pigmentosa.
Mastropasqua R et al.
Diagnostics (basel, Switzerland), 2020
Monitoring progression of retinitis pigmentosa: current recommendations and recent advances.
Menghini M et al.
Expert Opinion on Orphan Drugs, 2020
Characterizing variants of unknown significance in rhodopsin: A functional genomics approach.
Wan A et al.
Human Mutation, 2019
Efficacy of topical brinzolamide in children with retinal dystrophies.
Scruggs BA et al.
Ophthalmic Genetics, 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
Multimodal structural disease progression of retinitis pigmentosa according to mode of inheritance.
Jauregui R et al.
Scientific Reports, 2019
Fundus autofluorescence and ellipsoid zone (EZ) line width can be an outcome measurement in RHO-associated autosomal dominant retinitis pigmentosa.
Takahashi VKL et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2019
Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families.
Martin-Merida I et al.
Investigative Ophthalmology & Visual Science, 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
Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual.
Beryozkin A et al.
Investigative Ophthalmology & Visual Science, 2016
Efficacy of Column Scatter Plots for Presenting Retinitis Pigmentosa Phenotypes in a Japanese Cohort.
Ogino K et al.
Translational Vision Science & Technology, 2016
Identification of a rhodopsin gene mutation in a large family with autosomal dominant retinitis pigmentosa.
Yu X et al.
Scientific 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
Prevalence of Rhodopsin mutations in autosomal dominant Retinitis Pigmentosa in Spain: clinical and analytical review in 200 families.
Fernandez-San Jose P et al.
Acta Ophthalmologica, 2015
Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa.
Daiger SP et al.
Cold Spring Harbor Perspectives in Medicine, 2014
Crystal structure of a common GPCR-binding interface for G protein and arrestin.
Szczepek M et al.
Nature Communications, 2014
Hsp90 inhibition protects against inherited retinal degeneration.
Aguilà M et al.
Human Molecular Genetics, 2014
Constitutively active rhodopsin and retinal disease.
Park PS
Advances in Pharmacology (san Diego, Calif.), 2014
Genotyping microarray: mutation screening in Spanish families with autosomal dominant retinitis pigmentosa.
Blanco-Kelly F et al.
Molecular Vision, 2012
Analysis of disease-linked rhodopsin mutations based on structure, function, and protein stability calculations.
Rakoczy EP et al.
Journal of Molecular Biology, 2011
Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy.
Cideciyan AV
Progress in Retinal and Eye Research, 2010
Molecular mechanisms of rhodopsin retinitis pigmentosa and the efficacy of pharmacological rescue.
Krebs MP et al.
Journal of Molecular Biology, 2010
Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations.
Jacobson SG et al.
Investigative Ophthalmology & Visual Science, 2009
In silico study of the human rhodopsin and meta rhodopsin II/S-arrestin complexes: impact of single point mutations related to retina degenerative diseases.
Mokarzel-Falcón L et al.
Proteins, 2008
Retinitis pigmentosa associated with rhodopsin mutations: Correlation between phenotypic variability and molecular effects.
Iannaccone A et al.
Vision Research, 2006
Stable rhodopsin/arrestin complex leads to retinal degeneration in a transgenic mouse model of autosomal dominant retinitis pigmentosa.
Chen J et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2006