Associated Papers
Cystoid Macular Edema in Non-Syndromic Retinitis Pigmentosa: Associations With Causative Genes in a Large Cohort.
Testa F et al.
Investigative Ophthalmology & Visual Science, 2025
Rhodopsin-associated retinal dystrophy: Disease mechanisms and therapeutic strategies.
Zhen F et al.
Frontiers in Neuroscience, 2023
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 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
Structure network-based landscape of rhodopsin misfolding by mutations and algorithmic prediction of small chaperone action.
Felline A et al.
Computational and Structural Biotechnology Journal, 2021
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Zampaglione E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Characterizing variants of unknown significance in rhodopsin: A functional genomics approach.
Wan A et al.
Human Mutation, 2019
A Small Chaperone Improves Folding and Routing of Rhodopsin Mutants Linked to Inherited Blindness.
Behnen P et al.
Iscience, 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
Analysis of disease-linked rhodopsin mutations based on structure, function, and protein stability calculations.
Rakoczy EP et al.
Journal of Molecular Biology, 2011
Structural insights into retinitis pigmentosa from unfolding simulations of rhodopsin mutants.
Fanelli F et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2010
Molecular mechanisms of rhodopsin retinitis pigmentosa and the efficacy of pharmacological rescue.
Krebs MP et al.
Journal of Molecular Biology, 2010
Comparison of the retinitis pigmentosa mutations in rhodopsin with a functional map of the C5a receptor.
Hagemann IS et al.
Vision Research, 2006
Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families.
Ziviello C et al.
Journal of Medical Genetics, 2005
[Recent progress in molecular genetics and gene therapy for retinitis pigmentosa].
Wang DY et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2005
Gene mutations in retinitis pigmentosa and their clinical implications.
Wang DY et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2005
Patterns of retinal light absorption related to retinitis pigmentosa mutants from in silico model structures of rhodopsin.
Padrón-García JA et al.
Proteins, 2004
Structural and functional impairment of endocytic pathways by retinitis pigmentosa mutant rhodopsin-arrestin complexes.
Chuang JZ et al.
The Journal of Clinical Investigation, 2004
Retinitis pigmentosa-associated rhodopsin mutations in three membrane-located cysteine residues present three different biochemical phenotypes.
Breikers G et al.
Biochemical and Biophysical Research Communications, 2002
Signal transduction in the retina and inherited retinopathies.
Shastry BS
Cellular and Molecular Life Sciences : Cmls, 1997
Structure and function in rhodopsin: correct folding and misfolding in point mutants at and in proximity to the site of the retinitis pigmentosa mutation Leu-125-->Arg in the transmembrane helix C.
Garriga P et al.
Proceedings of the National Academy of Sciences of the United States of America, 1996
Structure and function in rhodopsin. 7. Point mutations associated with autosomal dominant retinitis pigmentosa.
Kaushal S et al.
Biochemistry, 1994
Rhodopsin mutations responsible for autosomal dominant retinitis pigmentosa. Clustering of functional classes along the polypeptide chain.
Sung CH et al.
The Journal of Biological Chemistry, 1993
Doyne Lecture. Rhodopsin and autosomal dominant retinitis pigmentosa.
Dryja TP
Eye (london, England), 1992