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. 2013 Oct 17;29(6):773–778. doi: 10.1007/s12264-013-1382-3

Role of the PTEN signaling pathway in autism spectrum disorder

Jing-Wen Lv 1, Tian-Lin Cheng 2, Zi-Long Qiu 2, Wen-Hao Zhou 1,✉
PMCID: PMC5562549  PMID: 24136242

Abstract

Autism is an etiologically heterogeneous group of neurodevelopmental disorders, diagnosed mostly by the clinical behavioral phenotypes. The concept that the tumor-related gene PTEN plays a critical role in autism spectrum disorder has emerged over the last decade. In this review, we focus on the essential role of the PTEN signaling pathway in neuronal differentiation and the formation of neural circuitry, as well as genetic mouse models with Pten manipulations. Particularly, accumulated data suggest that the effect of PTEN on neural stem-cell development contributes significantly to the pathophysiology of autism spectrum disorders.

Keywords: PTEN, TSC1/2, autism, synapse, neural stem cells

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