Using iPS cell-derived neurons to uncover cellular phenotypes associated with Timothy Syndrome

Monogenic neurodevelopmental disorders provide key insights into the pathogenesis of disease and help us understand how specific genes control the development of the human brain. Timothy syndrome is caused by a missense mutation in the L-type calcium channel Ca(v)1.2 that is associated with developm...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Paşca, Sergiu P., Portmann, Thomas, Voineagu, Irina, Yazawa, Masayuki, Shcheglovitov, Oleksandr, Paşca, Anca M., Cord, Branden, Palmer, Theo D., Chikahisa, Sachiko, Seiji, Nishino, Bernstein, Jonathan A., Hallmayer, Joachim, Geschwind, Daniel H., Dolmetsch, Ricardo E.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2011
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3517299/
https://ncbi.nlm.nih.gov/pubmed/22120178
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/nm.2576
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