Aberrant calcium channel splicing drives defects in cortical differentiation in Timothy syndrome

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 Ca(v)1.2. Using mouse brain and human induced pluripotent stem cells (iPSCs), we provide evidence that the TS mutation prevents a normal develo...

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Detalles Bibliográficos
Autores principales: Panagiotakos, Georgia, Haveles, Christos, Arjun, Arpana, Petrova, Ralitsa, Rana, Anshul, Portmann, Thomas, Paşca, Sergiu P, Palmer, Theo D, Dolmetsch, Ricardo E
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2019
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6964969/
https://www.ncbi.nlm.nih.gov/pubmed/31868578
http://dx.doi.org/10.7554/eLife.51037

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6964969/
https://www.ncbi.nlm.nih.gov/pubmed/31868578
http://dx.doi.org/10.7554/eLife.51037

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