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Review
. 2021 Aug 27;49(4):1567-1588.
doi: 10.1042/BST20201313.

Protein Phosphatase 2A (PP2A) mutations in brain function, development, and neurologic disease

Iris Verbinnen  1   2 , Pieter Vaneynde  1   2 , Sara Reynhout  1   2 , Lisa Lenaerts  1 , Rita Derua  1 , Gunnar Houge  3 , Veerle Janssens  1   2
Affiliations
Review

Protein Phosphatase 2A (PP2A) mutations in brain function, development, and neurologic disease

Iris Verbinnen et al. Biochem Soc Trans. .

Abstract

By removing Ser/Thr-specific phosphorylations in a multitude of protein substrates in diverse tissues, Protein Phosphatase type 2A (PP2A) enzymes play essential regulatory roles in cellular signalling and physiology, including in brain function and development. Here, we review current knowledge on PP2A gene mutations causally involved in neurodevelopmental disorders and intellectual disability, focusing on PPP2CA, PPP2R1A and PPP2R5D. We provide insights into the impact of these mutations on PP2A structure, substrate specificity and potential function in neurobiology and brain development.

Keywords: PP2A; PP2A syndromes; neurodevelopmental disorders; protein phosphatases.

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