Article
Differential pathogenetic mechanisms of mutations in helix 2 and helix 6 of rhodopsin.
International journal of biological macromolecules - 1 Nov 2024
Bighinati Andrea, D'Alessandro Sara, Felline Angelo, Zeitz Christina, Bocquet Béatrice, Casarini Livio, Kalatzis Vasiliki, Meunier Isabelle, Fanelli Francesca, Manes Gaël, Marigo Valeria
Abstract excerpt
Variants in rhodopsin (RHO) have been linked to autosomal dominant congenital stationary night blindness (adCSNB), which affects the ability to see in dim light, and the pathogenetic mechanism is still not well understood. In this study we report two novel RHO variants found in adCSNB families, p.W265R and p.A269V, that map in the sixth transmembrane domain of RHO protein. We applied in silico molecular...
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