Ontology highlight
ABSTRACT:
SUBMITTER: Ploier B
PROVIDER: S-EPMC5059438 | biostudies-literature | 2016 Oct
REPOSITORIES: biostudies-literature
Ploier Birgit B Caro Lydia N LN Morizumi Takefumi T Pandey Kalpana K Pearring Jillian N JN Goren Michael A MA Finnemann Silvia C SC Graumann Johannes J Arshavsky Vadim Y VY Dittman Jeremy S JS Ernst Oliver P OP Menon Anant K AK
Nature communications 20161003
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 and F220C-yield fully functional visual pigments that bind the 11-cis retinal chromop ...[more]