A disorder-related variant (E420K) of a PP2A-regulatory subunit (PPP2R5D) causes constitutively active AKT-mTOR signaling and uncoordinated cell growth.
Papke CM, Smolen KA, Swingle MR, Cressey L, Heng RA, Toporsian M, Deng L, Hagen J, Shen Y, Chung WK, Kettenbach AN, Honkanen RE
J Biol Chem. 2021 Jan-Jun;296:100313. doi: 10.1016/j.jbc.2021.100313. Epub 2021 Jan 20.
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