PTEN signaling in autism spectrum disorders.

Abstract:

:PTEN germline mutations are found in a small subset of children diagnosed with autism spectrum disorder (ASD) and accompanying macrocephaly. In this review, we discuss recent advances that offer insight into the pathogenesis of this subgroup of autism patients. We provide an overview of how disrupting PTEN function influences neuronal cells, and describe efforts to decipher the cellular mechanisms associated with altered social behaviors. We discuss the PTEN downstream signaling pathways that likely mediate these cellular and behavioral effects. In addition, emerging data suggest that PTEN mutation can synergize with mutations in other autism susceptibility genes to contribute to the development of autistic behaviors. These studies extend our knowledge of PTEN and the PTEN signaling pathway, and offer molecular and cellular clues to better understand the etiology of ASDs.

journal_name

Curr Opin Neurobiol

authors

Zhou J,Parada LF

doi

10.1016/j.conb.2012.05.004

subject

Has Abstract

pub_date

2012-10-01 00:00:00

pages

873-9

issue

5

eissn

0959-4388

issn

1873-6882

pii

S0959-4388(12)00083-9

journal_volume

22

pub_type

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