Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction
oleh: 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 Rogic, Matthew Edwards, Ana Niciforovic, Alessandro Cau, Catharine H. Rankin, Timothy P. O’Connor, Shernaz X. Bamji, Christopher J. R. Loewen, Douglas W. Allan, Paul Pavlidis, Kurt Haas
| Format: | Article |
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| Diterbitkan: | Nature Portfolio 2020-04-01 |
Deskripsi
Mutations in PTEN have been associated with various human disease, including autism spectrum disorder (ASD) and cancer. Here, the authors assess the function of 106 PTEN variants in yeast, invertebrate models and cell culture and report that PTEN variants generally decrease protein stability.