Article

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

2020-10-06

Abstract excerpt

<title>Abstract</title> <p><bold>Background </bold>Tuberous sclerosis complex (TSC) is a rare genetic multisystemic disorder resulting from autosomal dominant mutations in the <italic>TSC1</italic> or <italic>TSC2</italic> genes. It is characterised by hyperactivation of the mechanistic target of rapamycin complex 1 (mTORC1) pathway and has severe neurodevelopmental and neurological components including autism, i...

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Literature Corpus work: 60a9de69-f975-5f3e-83d6-b8f290c13781
DOI: 10.21203/rs.3.rs-35221/v3

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