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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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| 出版年: | eLife |
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| 主要な著者: | , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
eLife Sciences Publications, Ltd
2019
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6964969/ https://ncbi.nlm.nih.gov/pubmed/31868578 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7554/eLife.51037 |
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