Associated Papers
Genetic Spectrum of Negative Electroretinograms in a Predominantly Pediatric Cohort of 177 Patients.
Zaslavsky K et al.
Investigative Ophthalmology & Visual Science, 2025
Loss of PIKfyve in Rod Photoreceptors and RPE Cells Leads to Endolysosomal Dysfunction and Retinal Degeneration.
Rajala A et al.
Biorxiv : the Preprint Server for Biology, 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
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
The double whammy of ER-retention and dominant-negative effects in numerous autosomal dominant diseases: significance in disease mechanisms and therapy.
Gariballa N et al.
Journal of Biomedical Science, 2024
Scaling up Functional Analyses of the G Protein-Coupled Receptor Rhodopsin.
Scott BM et al.
Journal of Molecular Evolution, 2024
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM et al.
Frontiers in Cell and Developmental Biology, 2023
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
Dimeric Rhodopsin R135L Mutant-Transducin-like Complex Sheds Light on Retinitis Pigmentosa Misfunctions.
Guérin DMA et al.
The Journal of Physical Chemistry. B, 2021
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
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
Biased signaling in naturally occurring mutations of G protein-coupled receptors associated with diverse human diseases.
Yang LK et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2021
Relationship Between Macular Curvature and Common Causative Genes of Retinitis Pigmentosa in Japanese Patients.
Koyanagi Y et al.
Investigative Ophthalmology & Visual Science, 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
Variant Profiling of a Large Cohort of 138 Chinese Families With Autosomal Dominant Retinitis Pigmentosa.
Xiao T et al.
Frontiers in Cell and Developmental Biology, 2020
Characterizing variants of unknown significance in rhodopsin: A functional genomics approach.
Wan A et al.
Human Mutation, 2019
Severe retinitis pigmentosa with posterior staphyloma in a family with c.886C>A p.(Lys296Glu) RHO mutation.
Smirnov VM et al.
Ophthalmic Genetics, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
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
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
Biology and therapy of inherited retinal degenerative disease: insights from mouse models.
Veleri S et al.
Disease Models & Mechanisms, 2015
Photoactivation-induced instability of rhodopsin mutants T4K and T17M in rod outer segments underlies retinal degeneration in X. laevis transgenic models of retinitis pigmentosa.
Tam BM et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2014
Hsp90 inhibition protects against inherited retinal degeneration.
Aguilà M et al.
Human Molecular Genetics, 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
Constitutively active rhodopsin and retinal disease.
Park PS
Advances in Pharmacology (san Diego, Calif.), 2014
Rhodopsin homeostasis and retinal degeneration: lessons from the fly.
Xiong B et al.
Trends in Neurosciences, 2013
Visual arrestin interaction with clathrin adaptor AP-2 regulates photoreceptor survival in the vertebrate retina.
Moaven H et al.
Proceedings of the National Academy of Sciences of the United States of America, 2013
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
Next-generation sequencing in health-care delivery: lessons from the functional analysis of rhodopsin.
Davies WI et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2012
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
Molecular mechanisms of disease for mutations at Gly-90 in rhodopsin.
Toledo D et al.
The Journal of Biological Chemistry, 2011
Examining rhodopsin retention in endoplasmic reticulum and intracellular localization in vitro and in vivo by using truncated rhodopsin fragments.
Chen YF et al.
Journal of Cellular Biochemistry, 2011
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Q344ter mutation causes mislocalization of rhodopsin molecules that are catalytically active: a mouse model of Q344ter-induced retinal degeneration.
Concepcion F et al.
Plos One, 2010