Associated Papers
RHO Variants and Autosomal Dominant Retinitis Pigmentosa: Insights from the Italian Genetic Landscape.
Trastulli G et al.
Genes, 2024
39336749 (PubMed )
Supplement: genes-15-01158-s001.zip › genes-3162794-supplementary.xlsx › Table_S1
CRISPR DNA Base Editing Strategies for Treating Retinitis Pigmentosa Caused by Mutations in Rhodopsin.
Kaukonen M et al.
Genes, 2022
35893064 (PubMed )
Supplement: genes-13-01327-s001.zip › Table_S2_ClinVar.xlsx › ClinVar_2022-04-19
Deep Learning to Distinguish ABCA4-Related Stargardt Disease from PRPH2-Related Pseudo-Stargardt Pattern Dystrophy.
Miere A et al.
Journal of Clinical Medicine, 2021
Characterizing variants of unknown significance in rhodopsin: A functional genomics approach.
Wan A et al.
Human Mutation, 2019
30977563 (PubMed )
Supplement: HUMU-40-1127-s002.xlsx › Table_S1
The co-chaperone and reductase ERdj5 facilitates rod opsin biogenesis and quality control.
Athanasiou D et al.
Human Molecular Genetics, 2014
A comparison of progressive loss of the ellipsoid zone (EZ) band in autosomal dominant and x-linked retinitis pigmentosa.
Cai CX et al.
Investigative Ophthalmology & Visual Science, 2014
Severe retinal degeneration caused by a novel rhodopsin mutation.
Liu H et al.
Investigative Ophthalmology & Visual Science, 2010
Opsin stability and folding: the role of Cys185 and abnormal disulfide bond formation in the intradiscal domain.
McKibbin C et al.
Journal of Molecular Biology, 2007
Structure and function in rhodopsin: further elucidation of the role of the intradiscal cysteines, Cys-110, -185, and -187, in rhodopsin folding and function.
Hwa J et al.
Proceedings of the National Academy of Sciences of the United States of America, 1999
Structure and function in rhodopsin: replacement by alanine of cysteine residues 110 and 187, components of a conserved disulfide bond in rhodopsin, affects the light-activated metarhodopsin II state.
Davidson FF et al.
Proceedings of the National Academy of Sciences of the United States of America, 1994
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