DEPDC5 haploinsufficiency drives increased mTORC1 signaling and abnormal morphology in human iPSC-derived cortical neurons

Mutations in the DEPDC5 gene can cause epilepsy, including forms with and without brain malformations. The goal of this study was to investigate the contribution of DEPDC5 gene dosage to the underlying neuropathology of DEPDC5-related epilepsies. We generated induced pluripotent stem cells (iPSCs) f...

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I publikationen:Neurobiol Dis
Huvudupphovsmän: Klofas, Lindsay K., Short, Brittany P., Snow, John P., Sinnaeve, Justine, Rushing, Gabrielle V., Westlake, Grant, Weinstein, Will, Ihrie, Rebecca A., Ess, Kevin C., Carson, Robert P.
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2020
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC7462127/
https://ncbi.nlm.nih.gov/pubmed/32574724
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nbd.2020.104975
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