A disorder-related variant (E420K) of a PP2A-regulatory subunit (PPP2R5D) causes constitutively active AKT-mTOR signaling and uncoordinated cell growth
Cinta M. Papke, Kali A. Smolen, Mark R. Swingle, Lauren Cressey, Richard Heng, Mourad Toporsian, Liyong Deng, Jacob Hagen, Yufeng Shen, Wendy K. Chung, Arminja N. Kettenbach, Richard E. Honkanen
Abstract
), also provides a roadmap that can be used to rapidly explore the etiologies of additional genetic disorders.
Topics & Concepts
Protein phosphatase 2PI3K/AKT/mTOR pathwayProtein kinase BProtein subunitCell biologyCell growthSignal transductionCancer researchBiologyChemistryGeneticsGenePI3K/AKT/mTOR signaling in cancerCRISPR and Genetic EngineeringProtein Degradation and Inhibitors