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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Full‐length Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7049797/
https://www.ncbi.nlm.nih.gov/pubmed/32140648
http://dx.doi.org/10.1002/epi4.12377

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7049797/
https://www.ncbi.nlm.nih.gov/pubmed/32140648
http://dx.doi.org/10.1002/epi4.12377

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