Article
Dimerization deficiency of enigmatic retinitis pigmentosa-linked rhodopsin mutants.
Nature communications - 3 Oct 2016
Ploier Birgit, Caro Lydia N, Morizumi Takefumi, Pandey Kalpana, Pearring Jillian N, Goren Michael A, Finnemann Silvia C, Graumann Johannes, Arshavsky Vadim Y, Dittman Jeremy S, Ernst Oliver P, Menon Anant K
Abstract excerpt
Retinitis pigmentosa (RP) is a blinding disease often associated with mutations in rhodopsin, a light-sensing G protein-coupled receptor and phospholipid scramblase. Most RP-associated mutations affect rhodopsin's activity or transport to disc membranes. Intriguingly, some mutations produce apparently normal rhodopsins that nevertheless cause disease. Here we show that three such enigmatic mutations-F45L, V209M...
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