Associated Papers
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
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
RHO Variants and Autosomal Dominant Retinitis Pigmentosa: Insights from the Italian Genetic Landscape.
Trastulli G et al.
Genes, 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
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
Characterizing variants of unknown significance in rhodopsin: A functional genomics approach.
Wan A et al.
Human Mutation, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 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
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
Analysis of disease-linked rhodopsin mutations based on structure, function, and protein stability calculations.
Rakoczy EP et al.
Journal of Molecular Biology, 2011
Molecular mechanisms of rhodopsin retinitis pigmentosa and the efficacy of pharmacological rescue.
Krebs MP et al.
Journal of Molecular Biology, 2010
Progress toward effective treatments for human photoreceptor degenerations.
Stone EM
Current Opinion in Genetics & Development, 2009
Comparison of the retinitis pigmentosa mutations in rhodopsin with a functional map of the C5a receptor.
Hagemann IS et al.
Vision Research, 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
Altered functionality in rhodopsin point mutants associated with retinitis pigmentosa.
Andrés A et al.
Biochemical and Biophysical Research Communications, 2003
Mutations at position 125 in transmembrane helix III of rhodopsin affect the structure and signalling of the receptor.
Andrés A et al.
European Journal of Biochemistry, 2001
Signal transduction in the retina and inherited retinopathies.
Shastry BS
Cellular and Molecular Life Sciences : Cmls, 1997
The effects of amino acid replacements of glycine 121 on transmembrane helix 3 of rhodopsin.
Han M et al.
The Journal of Biological Chemistry, 1996
Clinical and genetic aspects of two Spanish families with autosomal dominant retinitis pigmentosa (ADRP)
Vilela C et al.
Ophthalmic Genetics, 1996
Gly114Asp mutation of rhodopsin in autosomal dominant retinitis pigmentosa.
Millán JM et al.
Molecular and Cellular Probes, 1995
Changing the location of the Schiff base counterion in rhodopsin.
Zhukovsky EA et al.
Biochemistry, 1992