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ACVR1 R206H receptor mutation causes fibrodysplasia ossificans progressiva by imparting responsiveness to activin A
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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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“as ActRIIA/B receptors mediate many diverse biologic processes by responding to over a dozen ligands23–25”
From GDF8 and activin A blockade protects against GLP-1–induced muscle loss while enhancing fat loss in obese male mice and non-human primates (2025) · cites this paper as [24]
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“since these receptors mediate the diverse biologic actions of more than a dozen ligands23–25, there are potential concerns with broad ActRIIA/B blockade as an approach to maintain or increase muscle growth.”
From GDF8 and activin A blockade protects against GLP-1–induced muscle loss while enhancing fat loss in obese male mice and non-human primates (2025) · cites this paper as [24]
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Metadata
- Authors
- Hatsell, S. J., Idone, V., Wolken, D. M. A., Huang, L., Kim, H. J., Wang, L., Wen, X., Nannuru, K. C., Jimenez, J., Xie, L., Das, N., Makhoul, G., Chernomorsky, R., D’Ambrosio, D., Corpina, R. A., Schoenherr, C. J., Feeley, K., Yu, P. B., Yancopoulos, G. D., Murphy, A. J., & Economides, A. N.
- Affiliations
- Regeneron (United States) (US)
- Regeneron Pharmaceuticals Inc., 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA.
- Brigham and Women's Hospital (US)
- Corresponding author
- Hatsell, Sarah J.
- Idone, Vincent
- Wolken, Dana M. Alessi
- Huang, Lily
- Kim, Hyon J.
- Feeley, Kieran
- Economides, Aris N.
- ORCID
- Venue
- Science Translational Medicine
- Published
- 2015-09-02
- Volume
- 7
- Issue
- 303
- Pages
- 303ra137-303ra137
- ISSN
- 1946-6234 (ISSN-L)
- 1946-6242
- PMC
- PMC6164166
- OpenAlex
- W2145304853
- Cited by
- 446
- References
- 38
- Citations by year
- 2026: 26 · 2025: 27 · 2024: 49 · 2023: 41 · 2022: 33 · 2021: 47 · 2020: 52 · 2019: 39 · 2018: 34 · 2017: 54 · 2016: 34 · 2015: 10
- FWCI
- 36.97
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Locations
- Science Translational Medicine (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (R01AR057374)
- Topics
- Health Sciences › Medicine › Rheumatology › Heterotopic Ossification and Related Conditions
- Health Sciences › Medicine › Orthopedics and Sports Medicine › Bone Tumor Diagnosis and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Muscle Physiology and Disorders
- Keywords
- fibrodysplasia ossificans progressiva, ACVR1 R206H mutation, activin A, heterotopic ossification, BMP signaling, conditional knock-in mice, BMP antagonism
- MeSH terms
- Animals, Mice, Transgenic, Mutation, Myositis Ossificans, Protein Binding, Tacrolimus Binding Protein 1A, Activins, Activin Receptors, Type I, Mice
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