A disorder-related variant (E420K) of a PP2A-regulatory subunit (PPP2R5D) causes constitutively active AKT-mTOR signaling and uncoordinated cell growth-Reference-Cited by-同舟云学术

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

Published:2021-01 Issue: Volume:296 Page:100313
ISSN:0021-9258
Container-title:Journal of Biological Chemistry
language:en
Short-container-title:Journal of Biological Chemistry

Author:

Papke Cinta M.^ORCID,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.^ORCID,Honkanen Richard E.^ORCID

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Biochemistry

Reference93 articles.

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3. Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth;Loveday;Hum. Mol. Genet.,2015

4. PPP2R5D-Related neurodevelopmental disorder;Mirzaa,2019

5. Large-scale discovery of novel genetic causes of developmental disorders;Fitzgerald;Nature,2015

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