STRADα deficiency results in aberrant mTORC1 signaling during corticogenesis in humans and mice

Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE) is a rare human autosomal-recessive disorder characterized by abnormal brain development, cognitive disability, and intractable epilepsy. It is caused by homozygous deletions of STE20-related kinase adaptor α (STRADA). The unde...

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Autores principales: Orlova, Ksenia A., Parker, Whitney E., Heuer, Gregory G., Tsai, Victoria, Yoon, Jason, Baybis, Marianna, Fenning, Robert S., Strauss, Kevin, Crino, Peter B.
Formato: Artigo
Lenguaje:Inglês
Publicado: American Society for Clinical Investigation 2010
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Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2860905/
https://ncbi.nlm.nih.gov/pubmed/20424326
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI41592
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