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24 p, 5.6 MB Mechanism of the Dual Activities of Human CYP17A1 and Binding to Anti-Prostate Cancer Drug Abiraterone Revealed by a Novel V366M Mutation Causing 17,20 Lyase Deficiency / Fernández Cancio, Mónica (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Camats Tarruella, Núria (University of Bern) ; Flück, Christa E. (University of Bern) ; Zalewski, Adam (University of Bern) ; Dick, Bernhard (Department of Nephrology and Hypertension) ; Frey, Brigitte M. (University of Bern) ; Monné, Raquel (Hospital Universitari Joan XXIII de Tarragona) ; Torán, Núria (Hospital Universitari Vall d'Hebron) ; Audí, Laura (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Pandey, Amit V. (University of Bern) ; Universitat Autònoma de Barcelona
The CYP17A1 gene regulates sex steroid biosynthesis in humans through 17α-hydroxylase/17,20 lyase activities and is a target of anti-prostate cancer drug abiraterone. In a 46, XY patient with female external genitalia, together with a loss of function mutation S441P, we identified a novel missense mutation V366M at the catalytic center of CYP17A1 which preferentially impaired 17,20 lyase activity. [...]
2018 - 10.3390/ph11020037
Pharmaceuticals, Vol. 11 (april 2018)  

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