METHODS. Splicing of the targeted alpha(2)delta(4) (CACNA2D4) exons in presence and absence of the mutation was assessed by RT-PCR in vivo on mouse retinae and in vitro in HEK293T cells using splicing-reporter minigenes. Whole-cell patch-clamp recordings were performed to evaluate the impact of different Cacna2d4 variants on the biophysical properties of Cav1.4 L-type calcium channels (CACNA1F).
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.
A New Splicing Isoform of Cacna2d4 Mimicking the Effects of c.2451insC Mutation in the Retina: Novel Molecular and Electrophysiological Insights
Bozzi Yuri;
2015
Abstract
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
