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 Neurobioljournal_title
Current opinion in neurobiologyauthors
Zhou J,Parada LFdoi
10.1016/j.conb.2012.05.004subject
Has Abstractpub_date
2012-10-01 00:00:00pages
873-9issue
5eissn
0959-4388issn
1873-6882pii
S0959-4388(12)00083-9journal_volume
22pub_type
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journal_title:Current opinion in neurobiology
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journal_title:Current opinion in neurobiology
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journal_title:Current opinion in neurobiology
pub_type: 杂志文章,评审
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journal_title:Current opinion in neurobiology
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journal_title:Current opinion in neurobiology
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journal_title:Current opinion in neurobiology
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