Protein interactome reveals converging molecular pathways among autism disorders.
Protein interactome reveals converging molecular pathways among autism disorders.
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DOI：
10.1126/scitranslmed.3002166
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发表时间：
2011-06-08
影响因子：
17.1
通讯作者：
Zoghbi HY
中科院分区：
文献类型：
--
作者：
Sakai Y;Shaw CA;Dawson BC;Dugas DV;Al-Mohtaseb Z;Hill DE;Zoghbi HY
为了揭示高度异质性自闭症谱系障碍（ASD）之间的共同致病机制，我们开发了一个蛋白质相互作用网络，该网络识别了ASD相关基因编码的蛋白质之间的数百种新相互作用。我们意外地发现了SHANK和TSC 1之间的高连接性，以前与综合征型自闭症有关，这表明共同的分子途径是不同综合征中自闭症表型的基础。ASD患者比对照受试者更容易携带包含网络基因的CNVs。我们还发现，在患有特发性ASD的患者中，三个原发性病变（16q23.3和15q22缺失以及Xq28重复）涉及三个网络基因（NECAB2，PKM2和FLNA）。因此，蛋白质相互作用网络为识别特发性自闭症的原因和理解支持综合征型和特发性ASD的分子途径提供了一个框架。
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 CNVs that encompass network genes than 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.
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影响因子：
3.5
作者：
Ben-Shachar S;Chahrour M;Thaller C;Shaw CA;Zoghbi HY
通讯作者：
Zoghbi HY
影响因子：
6.2
作者：
Bozdagi O;Sakurai T;Papapetrou D;Wang X;Dickstein DL;Takahashi N;Kajiwara Y;Yang M;Katz AM;Scattoni ML;Harris MJ;Saxena R;Silverman JL;Crawley JN;Zhou Q;Hof PR;Buxbaum JD
通讯作者：
Buxbaum JD
影响因子：
30.8
作者：
Durand, Christelle M.;Betancur, Catalina;Bourgeron, Thomas
通讯作者：
Bourgeron, Thomas
影响因子：
4.5
作者：
Al-Ramahi I;Pérez AM;Lim J;Zhang M;Sorensen R;de Haro M;Branco J;Pulst SM;Zoghbi HY;Botas J
通讯作者：
Botas J
影响因子：
4.3
作者：
Ljungberg, M. Cecilia;Sunnen, C. Nicole;D'Arcangelo, Gabriella
通讯作者：
D'Arcangelo, Gabriella