Divergent signaling profiles in mTOR gain-of-function Smith-Kingsmore syndrome (SKS) and TSC2 deficiency
Curtis R. Carlson, Yang Shen, Hongzhi He, Erwin Kristobal Gudenschwager Basso, Chunyan Hou, Junfeng R Ma, Joanna C. Chiu, Andrew C. Liu
The paper compares signaling profiles in SKS and TSC2 deficiency using proteomics, phosphoproteomics, and transcriptomics to show distinct regulatory states.
bioRxiv · May 13, 2026 · PreprintMolecular Biology