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Article

TSC patient-derived isogenic neural progenitor cells reveal altered early neurodevelopmental phenotypes and rapamycin-induced MNK-eIF4E signaling.

Molecular autism - 1 Jan 2020

Martin Pauline, Wagh Vilas, Reis Surya A, Erdin Serkan, Beauchamp Roberta L, Shaikh Ghalib, Talkowski Michael, Thiele Elizabeth, Sheridan Steven D, Haggarty Stephen J, Ramesh Vijaya

Abstract excerpt

Background: Tuberous sclerosis complex (TSC) is a neurodevelopmental disorder with frequent occurrence of epilepsy, autism spectrum disorder (ASD), intellectual disability (ID), and tumors in multiple organs. The aberrant activation of mTORC1 in TSC has led to treatment with mTORC1 inhibitor rapamycin as a lifelong therapy for tumors, but TSC-associated neurocognitive manifestations remain unaffected by...

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Identifiers

PMID: 31921404
DOI: 10.1186/s13229-019-0311-3
PMCID: PMC6945400

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