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Trends Mol Med. 2011 Dec;17(12):734-42. doi: 10.1016/j.molmed.2011.07.008. Epub 2011 Sep 2.

mTOR: A pathogenic signaling pathway in developmental brain malformations.

Author information

  • Department of Neurology, PENN Epilepsy Center, University of Pennsylvania, 3 West Gates Bldg, 3400 Spruce St, Philadelphia, PA 19104, USA. peter.crino@uphs.upenn.edu

Abstract

The mTOR signaling network functions as a pivotal regulatory cascade during the development of the cerebral cortex. Aberrant hyperactivation of mTOR as a consequence of loss-of-function gene mutations encoding mTOR inhibitor proteins such as TSC1, TSC2, PTEN and STRADα has been recently linked to developmental cortical malformations associated with epilepsy and neurobehavioral disabilities. Investigation of mTOR signaling in these disorders provides for the first time exciting future avenues for assessment of biomarkers, patient stratification and prognostic measures as well as the opportunity for targeted therapy to regulate mTOR activity across all age groups. As we learn more about mTOR and its activity in the developing brain, many challenges will arise that must be overcome before widespread clinical therapeutics can be implemented.

Copyright © 2011. Published by Elsevier Ltd.

PMID:
21890410
[PubMed - indexed for MEDLINE]

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