[HTML][HTML] A disorder-related variant (E420K) of a PP2A-regulatory subunit (PPP2R5D) causes constitutively active AKT-mTOR signaling and uncoordinated cell growth
CM Papke, KA Smolen, MR Swingle, L Cressey… - Journal of Biological …, 2021 - ASBMB
Functional genomic approaches have facilitated the discovery of rare genetic disorders and
improved efforts to decipher their underlying etiology. PPP2R5D-related disorder is an early
childhood onset condition characterized by intellectual disability, hypotonia, autism-
spectrum disorder, macrocephaly, and dysmorphic features. The disorder is caused by de
novo single nucleotide changes in PPP2R5D, which generate heterozygous dominant
missense variants. PPP2R5D is known to encode a B'-type (B'56δ) regulatory subunit of a …
improved efforts to decipher their underlying etiology. PPP2R5D-related disorder is an early
childhood onset condition characterized by intellectual disability, hypotonia, autism-
spectrum disorder, macrocephaly, and dysmorphic features. The disorder is caused by de
novo single nucleotide changes in PPP2R5D, which generate heterozygous dominant
missense variants. PPP2R5D is known to encode a B'-type (B'56δ) regulatory subunit of a …