ACVR1R206H receptor mutation causes fibrodysplasia ossificans progressiva by imparting responsiveness to activin A | Science Translational Medicine

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Article Information

vol. 7 no. 303 303ra137

DOI:

https://doi.org/10.1126/scitranslmed.aac4358

PubMed:

Published By:

American Association for the Advancement of Science

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History:

Received for publication April 27, 2015
Accepted for publication July 28, 2015
.

Copyright & Usage:

Copyright © 2015, American Association for the Advancement of Science

Author Information

Sarah J. Hatsell¹,*,
Vincent Idone¹,*,
Dana M. Alessi Wolken¹,†,
Lily Huang¹,†,
Hyon J. Kim¹,†,
Lili Wang¹,
Xialing Wen¹,
Kalyan C. Nannuru¹,
Johanna Jimenez¹,
Liqin Xie¹,
Nanditha Das¹,
Genevieve Makhoul¹,
Rostislav Chernomorsky¹,
David D’Ambrosio¹,
Richard A. Corpina¹,
Christopher J. Schoenherr¹,
Kieran Feeley¹,‡,
Paul B. Yu²,
George D. Yancopoulos¹,
Andrew J. Murphy¹ and
Aris N. Economides¹,³,§

¹Regeneron Pharmaceuticals Inc., 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
²Brigham and Women’s Hospital, 20 Shattuck Street, Thorn Biosciences 1203, Boston, MA 02115, USA.
³Regeneron Genetics Center Inc., 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.

↵§Corresponding author. E-mail: aris{at}regeneron.com

↵* These authors contributed equally as first authors.
↵† These authors contributed equally as second authors.
↵‡ Present address: Ohio State University College of Medicine, 370 West 9th Avenue, Columbus, OH 43210, USA.

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Science Translational Medicine: 7 (303)

Science Translational Medicine

Vol 7, Issue 303
02 September 2015

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ACVR1^R206H receptor mutation causes fibrodysplasia ossificans progressiva by imparting responsiveness to activin A

By Sarah J. Hatsell, Vincent Idone, Dana M. Alessi Wolken, Lily Huang, Hyon J. Kim, Lili Wang, Xialing Wen, Kalyan C. Nannuru, Johanna Jimenez, Liqin Xie, Nanditha Das, Genevieve Makhoul, Rostislav Chernomorsky, David D’Ambrosio, Richard A. Corpina, Christopher J. Schoenherr, Kieran Feeley, Paul B. Yu, George D. Yancopoulos, Andrew J. Murphy, Aris N. Economides

Science Translational Medicine02 Sep 2015 : 303ra137

In patients with fibrodysplasia ossificans progressiva, the disease-causing mutation changes the ligand response profile of the ACVR1 receptor so that it is activated by the normally antagonistic ligand activin A.

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ACVR1^R206H receptor mutation causes fibrodysplasia ossificans progressiva by imparting responsiveness to activin A

By Sarah J. Hatsell, Vincent Idone, Dana M. Alessi Wolken, Lily Huang, Hyon J. Kim, Lili Wang, Xialing Wen, Kalyan C. Nannuru, Johanna Jimenez, Liqin Xie, Nanditha Das, Genevieve Makhoul, Rostislav Chernomorsky, David D’Ambrosio, Richard A. Corpina, Christopher J. Schoenherr, Kieran Feeley, Paul B. Yu, George D. Yancopoulos, Andrew J. Murphy, Aris N. Economides

Science Translational Medicine02 Sep 2015 : 303ra137

In patients with fibrodysplasia ossificans progressiva, the disease-causing mutation changes the ligand response profile of the ACVR1 receptor so that it is activated by the normally antagonistic ligand activin A.

Supplementary Materials
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