Molecular basis for variations in the sensitivity of pathogenic rhodopsin variants to 9-cis-retinal

Over 100 mutations in the rhodopsin gene have been linked to a spectrum of retinopathies that include retinitis pigmentosa and congenital stationary night blindness. Though most of these variants exhibit a loss of function, the molecular defects caused by these underlying mutations vary considerably...

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Detalles Bibliográficos
Autores principales: Roushar, Francis J., McKee, Andrew G., Kuntz, Charles P., Ortega, Joseph T., Penn, Wesley D., Woods, Hope, Chamness, Laura M., Most, Victoria, Meiler, Jens, Jastrzebska, Beata, Schlebach, Jonathan P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Biochemistry and Molecular Biology 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9399271/
https://www.ncbi.nlm.nih.gov/pubmed/35850308
http://dx.doi.org/10.1016/j.jbc.2022.102266

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