PTEN signaling in autism spectrum disorders

Jing Zhou, Luis F. Parada

Research output: Contribution to journalReview articlepeer-review

135 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)873-879
Number of pages7
JournalCurrent Opinion in Neurobiology
Issue number5
StatePublished - Oct 1 2012

ASJC Scopus subject areas

  • Neuroscience(all)


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