Large-scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia.

"CONFLICT OF INTERESTS G. d. A. and J. R. are employees of Alexion Pharmaceuticals, Inc., the study sponsor, and may own stock and/or stock options in the company. E. M. has received honoraria from Alexion Pharmaceuticals, Inc. C. N. is a former employee and T. S. is a current employee of Schrödinger and they may own stock and/or stock options in the company."

"In vitro functional assays were performed at RD‐Biotech (Besançon, France), under the joint direction of authors Guillermo del Angel and Etienne Mornet. Protein structural modeling and simulation were performed in collaboration with Schrödinger, Inc. (New York, NY). The authors wish to thank Mary Kunjappu and Meena Kathiresan from Alexion Pharmaceuticals, Inc., for their medical/scientific writing support, and Veruska Sena, Anna Petryk, Thomas Brown, and Sean Brugger from Alexion Pharmaceuticals, Inc., for their insights and suggestions. Editorial support was provided by Bina Patel from Peloton Advantage, LLC (Parsippany, NJ), an OPEN Health company, and funded by Alexion Pharmaceuticals, Inc. This study was sponsored by Alexion Pharmaceuticals, Inc., Boston, MA."