TSC patient-derived isogenic neural progenitor cells reveal altered early neurodevelopmental phenotypes and rapamycin-induced MNK-eIF4E signaling
Abstract
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 rapamycin.
Document Details
- Document Type
- Pub Defense Publication
- Publication Date
- Jan 06, 2020
- Source ID
- 10.1186/s13229-019-0311-3
Entities
People
- Elizabeth Thiele
- Ghalib Shaikh
- Michael Talkowski
- Pauline Martin
- Roberta L. Beauchamp
- Serkan Erdin
- Stephen J. Haggarty
- Steven D. Sheridan
- Surya A. Reis
- Vijaya Ramesh
- Vilas Wagh
Organizations
- National Institute of Neurological Disorders and Stroke
- United States Army Materiel Command