Associated Papers
Expanding the clinical and genetic spectrum of RHO-associated retinitis pigmentosa.
Amaral RAS et al.
Experimental Biology and Medicine (maywood, N.j.), 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
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
Autosomal dominant retinitis pigmentosa: An extended family report of the Asp-190-Tyr variant.
Moreira Martins P et al.
Archivos De La Sociedad Espanola De Oftalmologia, 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
Correcting a patient-specific Rhodopsin mutation with adenine base editor in a mouse model.
He X et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2025
Aggregation of the constitutively active K296E rhodopsin mutant contributes to retinal degeneration.
Vasudevan S et al.
Biorxiv : the Preprint Server for Biology, 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
RHO Variants and Autosomal Dominant Retinitis Pigmentosa: Insights from the Italian Genetic Landscape.
Trastulli G et al.
Genes, 2024
Genetic Characterization of 191 Probands with Inherited Retinal Dystrophy by Targeted NGS Analysis.
Mihalich A 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
Aggregation of rhodopsin mutants in mouse models of autosomal dominant retinitis pigmentosa.
Vasudevan S et al.
Nature Communications, 2024
Genetic treatment for autosomal dominant inherited retinal dystrophies: approaches, challenges and targeted genotypes.
Daich Varela M et al.
The British Journal of Ophthalmology, 2023
Rhodopsin-associated retinal dystrophy: Disease mechanisms and therapeutic strategies.
Zhen F et al.
Frontiers in Neuroscience, 2023
Clinical and genetic features of Koreans with retinitis pigmentosa associated with mutations in rhodopsin.
Jung YH et al.
Frontiers in Genetics, 2023
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
Long-term vitamin A supplementation in a preclinical mouse model for RhoD190N-associated retinitis pigmentosa.
Cui X et al.
Human Molecular Genetics, 2022
Nonretinoid chaperones improve rhodopsin homeostasis in a mouse model of retinitis pigmentosa.
Vats A et al.
Jci Insight, 2022
CRISPR/Cas therapeutic strategies for autosomal dominant disorders.
Caruso SM et al.
The Journal of Clinical Investigation, 2022
New insights into the molecular mechanism of rhodopsin retinitis pigmentosa from the biochemical and functional characterization of G90V, Y102H and I307N mutations.
Herrera-Hernández MG et al.
Cellular and Molecular Life Sciences : Cmls, 2022
Beyond Sector Retinitis Pigmentosa: Expanding the Phenotype and Natural History of the Rhodopsin Gene Codon 106 Mutation (Gly-to-Arg) in Autosomal Dominant Retinitis Pigmentosa.
Ballios BG et al.
Genes, 2021
Gene Therapy for Rhodopsin-associated Autosomal Dominant Retinitis Pigmentosa.
Massengill MT et al.
International Ophthalmology Clinics, 2021
Mirtron-mediated RNA knockdown/replacement therapy for the treatment of dominant retinitis pigmentosa.
Orlans HO et al.
Nature Communications, 2021
An Update on Gene Therapy for Inherited Retinal Dystrophy: Experience in Leber Congenital Amaurosis Clinical Trials.
Chiu W et al.
International Journal of Molecular Sciences, 2021
Stationary and Progressive Phenotypes Caused by the p.G90D Mutation in Rhodopsin Gene.
Kobal N et al.
International Journal of Molecular Sciences, 2021
Allele-specific editing ameliorates dominant retinitis pigmentosa in a transgenic mouse model.
Patrizi C et al.
American Journal of Human Genetics, 2021
Sector Retinitis Pigmentosa: Extending the Molecular Genetics Basis and Elucidating the Natural History.
Georgiou M et al.
American Journal of Ophthalmology, 2021
Clinical and genetic findings in Italian patients with sector retinitis pigmentosa.
Verdina T et al.
Molecular Vision, 2021
Progress in Gene Editing Tools and Their Potential for Correcting Mutations Underlying Hearing and Vision Loss.
Botto C et al.
Frontiers in Genome Editing, 2021
Dark noise and retinal degeneration from D190N-rhodopsin.
Silverman D et al.
Proceedings of the National Academy of Sciences of the United States of America, 2020
Pharmacological clearance of misfolded rhodopsin for the treatment of RHO-associated retinitis pigmentosa.
Liu X et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2020
Retinal degeneration in mice expressing the constitutively active G90D rhodopsin mutant.
Colozo AT et al.
Human Molecular Genetics, 2020
Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss.
Collin GB et al.
Cells, 2020
Disease asymmetry and hyperautofluorescent ring shape in retinitis pigmentosa patients.
Jauregui R et al.
Scientific Reports, 2020
Mechanisms of neurodegeneration in a preclinical autosomal dominant retinitis pigmentosa knock-in model with a RhoD190N mutation.
Sancho-Pelluz J et al.
Cellular and Molecular Life Sciences : Cmls, 2019
Characterizing variants of unknown significance in rhodopsin: A functional genomics approach.
Wan A et al.
Human Mutation, 2019
Multimodal structural disease progression of retinitis pigmentosa according to mode of inheritance.
Jauregui R et al.
Scientific Reports, 2019
Filtration of Short-Wavelength Light Provides Therapeutic Benefit in Retinitis Pigmentosa Caused by a Common Rhodopsin Mutation.
Orlans HO et al.
Investigative Ophthalmology & Visual Science, 2019
Genome Editing as a Treatment for the Most Prevalent Causative Genes of Autosomal Dominant Retinitis Pigmentosa.
Diakatou M et al.
International Journal of Molecular Sciences, 2019