期刊
JOURNAL OF PROTEOME RESEARCH
卷 8, 期 3, 页码 1515-1526出版社
AMER CHEMICAL SOC
DOI: 10.1021/pr800870d
关键词
DIGE; DiGeorge syndrome; proteomics; retinoic acid; T-box containing transcription factor
资金
- Ministero della Salute (Roma)
- Convenzione CEINGE-MIUR (2000) art 5.2
- Convenzione CEINGE-Regione Campania
- Progetto S. co. Pe
- Fondazione Telethon Funding Source: Custom
TBX1 haploinsufficiency is considered a major contributor to the del22q11.2/DiGeorge syndrome (DGS) phenotype. We have used proteomic tools to look at all the major proteins involved in the TBX1-mediated pathways in an attempt to better understand the molecular interactions instrumental to its cellular functions. We found more than 90 proteins that could be targeted by TBX1 through different mechanisms. The most interesting observation is that overexpression of TBX1 results in down-regulation of two proteins involved in retinoic acid metabolism.
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