Article
Disease-associated mutations in CNGB3 promote cytotoxicity in photoreceptor-derived cells.
Molecular vision - 1 Jan 2013
Liu Chunming, Sherpa Tshering, Varnum Michael D
Abstract excerpt
PURPOSE: To determine if achromatopsia associated F525N and T383fsX mutations in the CNGB3 subunit of cone photoreceptor cyclic nucleotide-gated (CNG) channels increases susceptibility to cell death in photoreceptor-derived cells. METHODS: Photoreceptor-derived 661W cells were transfected with cDNA encoding wild-type (WT) CNGA3 subunits plus WT or mutant CNGB3 subunits, and incubated with the membrane-permeable...
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