Protein interactome reveals converging molecular pathways among autism disorders

Yasunari Sakai, Chad A. Shaw, Brian C. Dawson, Diana V. Dugas, Zaina Al-Mohtaseb, David E. Hill, Huda Y. Zoghbi

研究成果: Contribution to journalArticle査読

144 被引用数 (Scopus)

抄録

To uncover shared pathogenic mechanisms among the highly heterogeneous autism spectrum disorders (ASDs), we developed a protein interaction network that identified hundreds of new interactions among proteins encoded by ASD-associated genes. We discovered unexpectedly high connectivity between SHANK and TSC1, previously implicated in syndromic autism, suggesting that common molecular pathways underlie autistic phenotypes in distinct syndromes. ASD patients were more likely to harbor copy number variations that encompass network genes than were control subjects. We also identified, in patients with idiopathic ASD, three de novo lesions (deletions in 16q23.3 and 15q22 and one duplication in Xq28) that involve three network genes (NECAB2, PKM2, and FLNA). The protein interaction network thus provides a framework for identifying causes of idiopathic autism and for understanding molecular pathways that underpin both syndromic and idiopathic ASDs.

本文言語英語
論文番号86ra49
ジャーナルScience Translational Medicine
3
86
DOI
出版ステータス出版済み - 6 8 2011
外部発表はい

All Science Journal Classification (ASJC) codes

  • Medicine(all)

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