mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly

OBJECTIVES: Recently, defects in the protein kinase mTOR (mammalian target of rapamycin) and its associated pathway have been correlated with hemimegalencephaly (HME). mTOR acts as a central regulator of important physiological cellular functions such as growth and proliferation, metabolism, autopha...

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Detalhes bibliográficos
Publicado no:Epilepsia Open
Main Authors: Garcia, Camila A. B., Carvalho, Simone C. S., Yang, Xiaoxu, Ball, Laurel L., George, Renee D., James, Kiely N., Stanley, Valentina, Breuss, Martin W., Thomé, Ursula, Santos, Marcelo V., Saggioro, Fabiano P., Neder Serafini, Luciano, Silva, Wilson A., Gleeson, Joseph G., Machado, Hélio R.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2020
Assuntos:
Full‐length Original Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7049797/
https://ncbi.nlm.nih.gov/pubmed/32140648
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/epi4.12377
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