Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction
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.
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Nature Portfolio
2020
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oai:doaj.org-article:1edea52849604fc89ff112a464d20e832021-12-02T14:40:50ZMulti-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction10.1038/s41467-020-15943-02041-1723https://doaj.org/article/1edea52849604fc89ff112a464d20e832020-04-01T00:00:00Zhttps://doi.org/10.1038/s41467-020-15943-0https://doaj.org/toc/2041-1723Mutations 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.Kathryn L. PostManuel BelmadaniPayel GangulyFabian MeiliRiki DingwallTroy A. McDiarmidWarren M. MeyersCaitlin HerringtonBarry P. YoungDaniel B. CallaghanSanja RogicMatthew EdwardsAna NiciforovicAlessandro CauCatharine H. RankinTimothy P. O’ConnorShernaz X. BamjiChristopher J. R. LoewenDouglas W. AllanPaul PavlidisKurt HaasNature PortfolioarticleScienceQENNature Communications, Vol 11, Iss 1, Pp 1-16 (2020) |
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DOAJ |
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DOAJ |
| language |
EN |
| topic |
Science Q |
| spellingShingle |
Science Q 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 Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction |
| description |
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. |
| format |
article |
| author |
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 |
| author_facet |
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 |
| author_sort |
Kathryn L. Post |
| title |
Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction |
| title_short |
Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction |
| title_full |
Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction |
| title_fullStr |
Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction |
| title_full_unstemmed |
Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction |
| title_sort |
multi-model functionalization of disease-associated pten missense mutations identifies multiple molecular mechanisms underlying protein dysfunction |
| publisher |
Nature Portfolio |
| publishDate |
2020 |
| url |
https://doaj.org/article/1edea52849604fc89ff112a464d20e83 |
| work_keys_str_mv |
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