Article
Molecular basis for variations in the sensitivity of pathogenic rhodopsin variants to 9-cis-retinal.
The Journal of biological chemistry - 1 Aug 2022
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
Abstract excerpt
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. In this work, we utilize deep mutational scanning to quantitatively compare the plasma membrane expression of 123...
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