ACVR1 R206H receptor mutation causes fibrodysplasia ossificans progressiva by imparting responsiveness to activin A-Reference-Cited by-同舟云学术

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

Published:2015-09-02 Issue:303 Volume:7 Page:
ISSN:1946-6234
Container-title:Science Translational Medicine
language:en
Short-container-title:Sci. Transl. Med.

Author:

Hatsell Sarah J.¹,Idone Vincent¹,Wolken Dana M. Alessi¹,Huang Lily¹,Kim Hyon J.¹,Wang Lili¹,Wen Xialing¹,Nannuru Kalyan C.¹,Jimenez Johanna¹,Xie Liqin¹,Das Nanditha¹,Makhoul Genevieve¹,Chernomorsky Rostislav¹,D’Ambrosio David¹,Corpina Richard A.¹,Schoenherr Christopher J.¹,Feeley Kieran¹,Yu Paul B.²,Yancopoulos George D.¹,Murphy Andrew J.¹,Economides Aris N.¹³

Affiliation:

1. Regeneron Pharmaceuticals Inc., 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.

2. Brigham and Women’s Hospital, 20 Shattuck Street, Thorn Biosciences 1203, Boston, MA 02115, USA.

3. Regeneron Genetics Center Inc., 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.

Abstract

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.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

General Medicine

Reference41 articles.

1. Fibrodysplasia Ossificans Progressiva: Clinical Course, Genetic Mutations and Genotype-Phenotype Correlation

2. A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva

3. Functional Modeling of the ACVR1 (R206H) Mutation in FOP

4. In vitro Analyses of the Dysregulated R206H ALK2 Kinase-FKBP12 Interaction Associated with Heterotopic Ossification in FOP

5. Structure of the Bone Morphogenetic Protein Receptor ALK2 and Implications for Fibrodysplasia Ossificans Progressiva

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