Hyperactivity of mTORC1 or mTORC2-dependent signaling causes epilepsy downstream of somatic PTEN loss

Gene variants that hyperactivate PI3K-mTOR signaling in the brain lead to epilepsy and cortical malformations in humans. Some gene variants associated with these pathologies only hyperactivate mTORC1, but others, such as PTEN, PIC3CA, and AKT, hyperactivate both mTORC1- and mTORC2-dependent signalin...

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Detalles Bibliográficos
Autores principales: Cullen, Erin R., Mittelstadt, Isabelle, Weston, Matthew C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10462128/
https://www.ncbi.nlm.nih.gov/pubmed/37645923
http://dx.doi.org/10.1101/2023.08.18.553856

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10462128/
https://www.ncbi.nlm.nih.gov/pubmed/37645923
http://dx.doi.org/10.1101/2023.08.18.553856

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