Ontology highlight
ABSTRACT:
SUBMITTER: Caterino M
PROVIDER: S-EPMC2735679 | biostudies-literature | 2009 Mar
REPOSITORIES: biostudies-literature
Caterino Marianna M Ruoppolo Margherita M Fulcoli Gabriella G Huynth Tuong T Orrù Stefania S Baldini Antonio A Salvatore Francesco F
Journal of proteome research 20090301 3
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 ...[more]