Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction
Kathryn L. Post, Manuel Belmadani, Payel Ganguly, Fabian Meili, Riki Dingwall, Troy A. McDiarmid, Warren M. Meyers, Caitlin Herrington, Barry P. Young, Daniel B. Callaghan, Sanja Rogić, Matthew Edwards, Ana P. Niciforovic, Alessandro Cau, Catharine H. Rankin, , Kurt Z. Haas
The paper evaluates 106 PTEN variants using 18 assays across 5 models to identify molecular mechanisms of dysfunction, finding that stability and domain-specific assays are critical for accurate impact assessment.
Nature Communications · Apr 29, 2020Peer-reviewedGenetics