Does a novel SOS1 mutation in Costello/CFC syndrome affect signaling in both RAS and PI3K pathways?
T158A is located in the histone-like domain, which may have a role in auto-inhibition of RAS exchanger activity of SOS1. T158A may disrupt auto-inhibition and enhance RAS signaling. T158A also affects PI3K/AKT signaling, probably via negative feedback via phospho-p70S6K.
This is the first study to demonstrate the effect of maximum expiration on abdominal muscle activities during a stabilizing exercise, thus contributing to existing knowledge about therapeutic exercise for alternative core training.