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Pharmacological intervention to restore connectivity deficits of neuronal networks derived from ASD patient iPSC with a TSC2 mutation

BACKGROUND: Tuberous sclerosis complex (TSC) is a rare genetic multisystemic disorder resulting from autosomal dominant mutations in the TSC1 or TSC2 genes. It is characterised by hyperactivation of the mechanistic target of rapamycin complex 1 (mTORC1) pathway and has severe neurodevelopmental and...

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Detalles Bibliográficos
Autores principales: Alsaqati, Mouhamed, Heine, Vivi M., Harwood, Adrian J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7574213/
https://www.ncbi.nlm.nih.gov/pubmed/33076974
http://dx.doi.org/10.1186/s13229-020-00391-w

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