Caterino Marianna, Ruoppolo Margherita, Fulcoli Gabriella, Huynth Tuong, Orrù Stefania, Baldini Antonio, Salvatore Francesco
CEINGE Biotecnologie Avanzate scarl, Napoli, Italy, Dipartimento di Biochimica e Biotecnologie Mediche, Universita di Napoli Federico II, Napoli, Italy.
J Proteome Res. 2009 Mar;8(3):1515-26. doi: 10.1021/pr800870d.
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.
TBX1单倍剂量不足被认为是22q11.2缺失/迪格奥尔格综合征（DGS）表型的主要促成因素。我们使用蛋白质组学工具研究了TBX1介导途径中涉及的所有主要蛋白质，以更好地理解对其细胞功能至关重要的分子相互作用。我们发现了90多种可通过不同机制被TBX1靶向的蛋白质。最有趣的发现是，TBX1的过表达导致参与视黄酸代谢的两种蛋白质表达下调。
