Associated Papers
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
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
Screening of Inherited Retinal Disease Patients in a Low-Resource Setting Using an Augmented Next-Generation Sequencing Panel.
Midgley N et al.
Molecular Genetics & Genomic Medicine, 2024
RHO Variants and Autosomal Dominant Retinitis Pigmentosa: Insights from the Italian Genetic Landscape.
Trastulli G et al.
Genes, 2024
Mutation analysis of RHO in patients with non-syndromic retinitis pigmentosa.
Zhuang J et al.
Ophthalmic Genetics, 2024
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
Panel-based genetic testing for inherited retinal disease screening 176 genes.
Sheck LHN et al.
Molecular Genetics & Genomic Medicine, 2021
Systematic profiling of temperature- and retinal-sensitive rhodopsin variants by deep mutational scanning.
McKee AG et al.
The Journal of Biological Chemistry, 2021
Structural aspects of rod opsin and their implication in genetic diseases.
Fanelli F et al.
Pflugers Archiv : European Journal of Physiology, 2021
Allele-specific editing ameliorates dominant retinitis pigmentosa in a transgenic mouse model.
Patrizi C et al.
American Journal of Human Genetics, 2021
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
Probing biophysical sequence constraints within the transmembrane domains of rhodopsin by deep mutational scanning.
Penn WD et al.
Science Advances, 2020
Disease asymmetry and hyperautofluorescent ring shape in retinitis pigmentosa patients.
Jauregui R et al.
Scientific Reports, 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
Autosomal Dominant Retinitis Pigmentosa Due to Class B Rhodopsin Mutations: An Objective Outcome for Future Treatment Trials.
Sumaroka A et al.
International Journal of Molecular Sciences, 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
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
Coupling of Human Rhodopsin to a Yeast Signaling Pathway Enables Characterization of Mutations Associated with Retinal Disease.
Scott BM et al.
Genetics, 2019
A Small Chaperone Improves Folding and Routing of Rhodopsin Mutants Linked to Inherited Blindness.
Behnen P et al.
Iscience, 2018
Cas9/sgRNA selective targeting of the P23H Rhodopsin mutant allele for treating retinitis pigmentosa by intravitreal AAV9.PHP.B-based delivery.
Giannelli SG et al.
Human Molecular Genetics, 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
Complexity of the Class B Phenotype in Autosomal Dominant Retinitis Pigmentosa Due to Rhodopsin Mutations.
Jacobson SG et al.
Investigative Ophthalmology & Visual Science, 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
Differential light-induced responses in sectorial inherited retinal degeneration.
Ramon E et al.
The Journal of Biological Chemistry, 2014
Insights into congenital stationary night blindness based on the structure of G90D rhodopsin.
Singhal A et al.
Embo Reports, 2013
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
Alterations in the photoactivation pathway of rhodopsin mutants associated with retinitis pigmentosa.
Bosch-Presegué L et al.
The Febs Journal, 2011
Analysis of disease-linked rhodopsin mutations based on structure, function, and protein stability calculations.
Rakoczy EP et al.
Journal of Molecular Biology, 2011
Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients.
Audo I et al.
Investigative Ophthalmology & Visual Science, 2010
Molecular mechanisms of rhodopsin retinitis pigmentosa and the efficacy of pharmacological rescue.
Krebs MP et al.
Journal of Molecular Biology, 2010
Rhodopsin: the functional significance of asn-linked glycosylation and other post-translational modifications.
Murray AR et al.
Ophthalmic Genetics, 2009
Development of lead hammerhead ribozyme candidates against human rod opsin mRNA for retinal degeneration therapy.
Abdelmaksoud HE et al.
Experimental Eye Research, 2009
Identifying pathogenic genetic background of simplex or multiplex retinitis pigmentosa patients: a large scale mutation screening study.
Jin ZB et al.
Journal of Medical Genetics, 2008
Comparison of the retinitis pigmentosa mutations in rhodopsin with a functional map of the C5a receptor.
Hagemann IS et al.
Vision Research, 2006
Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.
Tao YX
Pharmacology & Therapeutics, 2006
[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
Structural and functional role of helices I and II in rhodopsin. A novel interplay evidenced by mutations at Gly-51 and Gly-89 in the transmembrane domain.
Bosch L et al.
The Journal of Biological Chemistry, 2003