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
RHO-Associated Retinitis Pigmentosa: Genetics, Phenotype, Natural History, Functional Assays, and Animal Model - In Preparation for Clinical Trials.
Daich Varela M 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
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
Deletion of the Unfolded Protein Response Transducer IRE1α Is Detrimental to Aging Photoreceptors and to ER Stress-Mediated Retinal Degeneration.
Massoudi D et al.
Investigative Ophthalmology & Visual Science, 2023
Rhodopsin-associated retinal dystrophy: Disease mechanisms and therapeutic strategies.
Zhen F et al.
Frontiers in Neuroscience, 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
Neuroinflammation as a Therapeutic Target in Retinitis Pigmentosa and Quercetin as Its Potential Modulator.
Ortega JT et al.
Pharmaceutics, 2021
ATF6 is required for efficient rhodopsin clearance and retinal homeostasis in the P23H rho retinitis pigmentosa mouse model.
Lee EJ et al.
Scientific Reports, 2021
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.
Colombo L et al.
Investigative Ophthalmology & Visual Science, 2021
Characterizing variants of unknown significance in rhodopsin: A functional genomics approach.
Wan A et al.
Human Mutation, 2019
Role of Gln114 in Spectral Tuning of a Long-Wavelength Sensitive Visual Pigment.
Katayama K et al.
Biochemistry, 2019
Pattern of retinal morphological and functional decay in a light-inducible, rhodopsin mutant mouse.
Gargini C et al.
Scientific Reports, 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
Mouse models of human ocular disease for translational research.
Krebs MP et al.
Plos One, 2017
Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population.
Coussa RG et al.
Investigative Ophthalmology & Visual Science, 2015
A comparison of progressive loss of the ellipsoid zone (EZ) band in autosomal dominant and x-linked retinitis pigmentosa.
Cai CX et al.
Investigative Ophthalmology & Visual Science, 2014
Endoplasmic reticulum stress in vertebrate mutant rhodopsin models of retinal degeneration.
Kroeger H et al.
Advances in Experimental Medicine and Biology, 2014
The effects of IRE1, ATF6, and PERK signaling on adRP-linked rhodopsins.
Jerry Chiang WC et al.
Advances in Experimental Medicine and Biology, 2014
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
Selective activation of ATF6 and PERK endoplasmic reticulum stress signaling pathways prevent mutant rhodopsin accumulation.
Chiang WC et al.
Investigative Ophthalmology & Visual Science, 2012
IRE1 directs proteasomal and lysosomal degradation of misfolded rhodopsin.
Chiang WC et al.
Molecular Biology of the Cell, 2012
Severe retinal degeneration caused by a novel rhodopsin mutation.
Liu H et al.
Investigative Ophthalmology & Visual Science, 2010
Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies.
Sohocki MM et al.
Human Mutation, 2001