Associated Papers
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
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
Therapy in Rhodopsin-Mediated Autosomal Dominant Retinitis Pigmentosa.
Meng D et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2020
Probing biophysical sequence constraints within the transmembrane domains of rhodopsin by deep mutational scanning.
Penn WD et al.
Science Advances, 2020
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
A Small Chaperone Improves Folding and Routing of Rhodopsin Mutants Linked to Inherited Blindness.
Behnen P et al.
Iscience, 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
Insights into congenital stationary night blindness based on the structure of G90D rhodopsin.
Singhal A et al.
Embo Reports, 2013
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
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
Development of lead hammerhead ribozyme candidates against human rod opsin mRNA for retinal degeneration therapy.
Abdelmaksoud HE et al.
Experimental Eye Research, 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
Unusual thermal and conformational properties of the rhodopsin congenital night blindness mutant Thr-94 --> Ile.
Ramon E et al.
The Journal of Biological Chemistry, 2003
In vivo assessment of photoreceptor function in human diseases caused by photoreceptor-specific gene mutations.
Cideciyan AV
Methods in Enzymology, 2000
Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa.
Morimura H et al.
Nature Genetics, 1999
Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man.
Cideciyan AV et al.
Proceedings of the National Academy of Sciences of the United States of America, 1998
Signal transduction in the retina and inherited retinopathies.
Shastry BS
Cellular and Molecular Life Sciences : Cmls, 1997
Molecular Architecture of G Protein-Coupled Receptors.
van Rhee AM et al.
Drug Development Research, 1996
Structure and function in rhodopsin. 7. Point mutations associated with autosomal dominant retinitis pigmentosa.
Kaushal S et al.
Biochemistry, 1994
Doyne Lecture. Rhodopsin and autosomal dominant retinitis pigmentosa.
Dryja TP
Eye (london, England), 1992
Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa.
Sung CH et al.
Proceedings of the National Academy of Sciences of the United States of America, 1991
Rhodopsin mutations in autosomal dominant retinitis pigmentosa.
Sung CH et al.
Proceedings of the National Academy of Sciences of the United States of America, 1991
[Molecular-genetic basis of tapetoretinal degeneration].
Dzhemileva LU et al.
Molekuliarnaia Biologiia, 0