Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction
Post, Kathryn L., Belmadani, Manuel, Ganguly, Payel, Meili, Fabian, Dingwall, Riki, McDiarmid, Troy A., Meyers, Warren M., Herrington, Caitlin, Young, Barry P., Callaghan, Daniel B., Rogic, Sanja, Edwards, Matthew, Niciforovic, Ana, Cau, Alessandro, Rankin, Catharine H., O’Connor, Timothy P., Bamji, Shernaz X., Loewen, Christopher J. R., Allan, Douglas W., Pavlidis, Paul, Haas, Kurt
Published in Nature communications (29.04.2020)
Published in Nature communications (29.04.2020)
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Journal Article
Multi-parametric analysis of 57 SYNGAP1 variants reveal impacts on GTPase signaling, localization, and protein stability
Meili, Fabian, Wei, William J., Sin, Wun-Chey, Meyers, Warren M., Dascalu, Iulia, Callaghan, Daniel B., Rogic, Sanja, Pavlidis, Paul, Haas, Kurt
Published in American journal of human genetics (07.01.2021)
Published in American journal of human genetics (07.01.2021)
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Journal Article
Multi-parametric analysis of 58 SYNGAP1 variants reveal impacts on GTPase signaling, localization and protein stability
Meili, Fabian, Wei, William J, Wun-Chey Sin, Dascalu, Iulia, Callaghan, Daniel B, Rogic, Sanja, Meyers, Warren M, Pavlidis, Paul, Haas, Kurt
Published in bioRxiv (22.04.2020)
Published in bioRxiv (22.04.2020)
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Paper
Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction
Post, Kathryn L, Belmadani, Manuel, Ganguly, Payel, Meili, Fabian, Dingwall, Riki, Mcdiarmid, Troy A, Meyers, Warren M, Herrington, Caitlin, Young, Barry P, Callaghan, Daniel B, Rogic, Sanja, Edwards, Matthew, Niciforovic, Ana, Cau, Alessandro, Rankin, Catharine H, Timothy P O’connor, Bamji, Shernaz X, Loewen, Christopher J, Allan, Douglas W, Pavlidis, Paul, Haas, Kurt
Published in bioRxiv (10.10.2019)
Published in bioRxiv (10.10.2019)
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Paper