Shared mechanisms of neural circuit disruption in tuberous sclerosis across lifespan: Bridging neurodevelopmental and neurodegenerative pathology

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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Bibliographic Details
Main Author: Karen Litwa
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-11-01
Series:Frontiers in Genetics
Subjects:
synapse
tau
mTORC
tuberous sclerosis
GABA
neurodevelopment
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.997461/full

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