Abstract:An increasing number of mutations associated with devastating human diseases are being diagnosed by whole-genome/exon sequencing. Up to twentyde novomutations have been discovered in B56δ (encoded byPPP2R5D), a regulatory subunit of protein phosphatase 2A (PP2A), that cause intellectual disabilities (ID) and a broad range of neurological symptoms. Single-particle cryo-EM structures show that the PP2A-B56δ holoenzyme possesses closed latent and open active forms. In the closed form, the long, disordered arms of… Show more
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