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Shared mechanisms of neural circuit disruption in tuberous sclerosis across lifespan: Bridging neurodevelopmental and neurodegenerative pathology
Tuberous Sclerosis (TS) is a rare genetic disorder manifesting with multiple benign tumors impacting the function of vital organs. In TS patients, dominant negative mutations in TSC1 or TSC2 increase mTORC1 activity. Increased mTORC1 activity drives tumor formation, but also severely impacts central...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2022
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9732432/ https://www.ncbi.nlm.nih.gov/pubmed/36506334 http://dx.doi.org/10.3389/fgene.2022.997461 |