Article
A New Splicing Isoform of Cacna2d4 Mimicking the Effects of c.2451insC Mutation in the Retina: Novel Molecular and Electrophysiological Insights.
Investigative ophthalmology & visual science - 1 Jul 2015
Bacchi Niccolò, Messina Andrea, Burtscher Verena, Dassi Erik, Provenzano Giovanni, Bozzi Yuri, Demontis Gian Carlo, Koschak Alexandra, Denti Michela A, Casarosa Simona
Abstract excerpt
PURPOSE: Mutations in CACNA2D4 exon 25 cause photoreceptor dysfunction in humans (c.2406C→A mutation) and mice (c.2451insC mutation). We investigated the feasibility of an exon-skipping therapeutic approach by evaluating the splicing patterns and functional role of targeted exons. METHODS: Splicing of the targeted α2δ4 (CACNA2D4) exons in presence and absence of the mutation was assessed by RT-PCR in vivo on...
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