A disorder-related variant (E420K) of a PP2A-regulatory subunit (PPP2R5D) causes constitutively active AKT-mTOR signaling and uncoordinated cell growth

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, macrocephal...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Biochemistry and Molecular Biology 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7952134/
https://www.ncbi.nlm.nih.gov/pubmed/33482199
http://dx.doi.org/10.1016/j.jbc.2021.100313

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