Article
Aberrant calcium channel splicing drives defects in cortical differentiation in Timothy syndrome.
eLife - 23 Dec 2019
Panagiotakos Georgia, Haveles Christos, Arjun Arpana, Petrova Ralitsa, Rana Anshul, Portmann Thomas, Paşca Sergiu P, Palmer Theo D, Dolmetsch Ricardo E
Abstract excerpt
The syndromic autism spectrum disorder (ASD) Timothy syndrome (TS) is caused by a point mutation in the alternatively spliced exon 8A of the calcium channel Cav1.2. Using mouse brain and human induced pluripotent stem cells (iPSCs), we provide evidence that the TS mutation prevents a normal developmental switch in Cav1.2 exon utilization, resulting in persistent expression of gain-of-function mutant channels...
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