Article
Cellular expression and siRNA-mediated interference of rhodopsin cis-acting splicing mutants associated with autosomal dominant retinitis pigmentosa.
Investigative ophthalmology & visual science - 1 Jun 2011
Hernan Imma, Gamundi María José, Planas Ester, Borràs Emma, Maseras Miquel, Carballo Miguel
Abstract excerpt
PURPOSE: To investigate the cellular expression of cis-acting splicing mutations in the rhodopsin gene (RHO) that lead to autosomal dominant or recessive retinitis pigmentosa (adRP/arRP) and the role of nonsense-mediated mRNA decay (NMD) in its pathogenic mechanism. To design a potential therapeutic RNAi-based suppression strategy for cis-acting adRP splicing mutants. METHODS: Cells were transfected with genomic...
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