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Observation of a Possible Successful Treatment of DEPDC5 -Related Epilepsy with mTOR Inhibitor
The mechanistic target of the rapamycin signaling pathway serves as a central regulator of cell metabolism, growth, proliferation, and survival. In its regulation, the GTPase-activating protein activity toward Rags1 complex has an inhibitory effect. Mutations in genes encoding this complex protein a...
Autores principales: | Hadzsiev, Kinga, Hegyi, Márta, Fogarasi, András, Bodó-Baltavári, Tímea, Zsigmond, Anna, Maász, Anita, Szabó, András, Till, Ágnes |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Georg Thieme Verlag KG
2023
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10506865/ https://www.ncbi.nlm.nih.gov/pubmed/37263295 http://dx.doi.org/10.1055/a-2104-1614 |
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