Aberrant Proteostasis of BMAL1 Underlies Circadian Abnormalities in a Paradigmatic mTOR-opathy

Aberrant Proteostasis of BMAL1 Underlies Circadian Abnormalities in a Paradigmatic mTOR-opathy

Tuberous sclerosis complex (TSC) is a neurodevelopmental disorder characterized by mutations in either the TSC1 or TSC2 genes, whose products form a critical inhibitor of the mechanistic target of rapamycin (mTOR). Loss of TSC1/2 gene function renders an mTOR-overactivated state. Clinically, TSC man...

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Bibliographic Details
Main Authors: Jonathan O. Lipton, Lara M. Boyle, Elizabeth D. Yuan, Kevin J. Hochstrasser, Fortunate F. Chifamba, Ashwin Nathan, Peter T. Tsai, Fred Davis, Mustafa Sahin
Format: Article
Language:English
Published: Elsevier 2017-07-01
Series:Cell Reports
Subjects:
tuberous sclerosis complex
circadian rhythms
BMAL1
translation
neurodevelopmental disorder
mTOR
sleep disorders
autism
Online Access:http://www.sciencedirect.com/science/article/pii/S2211124717309609

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