Article
A disorder-related variant (E420K) of a PP2A-regulatory subunit (PPP2R5D) causes constitutively active AKT-mTOR signaling and uncoordinated cell growth.
The Journal of biological chemistry - 1 Jan 2000
Papke Cinta M, Smolen Kali A, Swingle Mark R, Cressey Lauren, Heng Richard A, Toporsian Mourad, Deng Liyong, Hagen Jacob, Shen Yufeng, Chung Wendy K, Kettenbach Arminja N, Honkanen Richard E
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.