Article
Anti-ACVR1 antibodies exacerbate heterotopic ossification in fibrodysplasia ossificans progressiva (FOP) by activating FOP-mutant ACVR1.
The Journal of clinical investigation - 15 Jun 2022
Aykul Senem, Huang Lily, Wang Lili, Das Nanditha M, Reisman Sandra, Ray Yonaton, Zhang Qian, Rothman Nyanza, Nannuru Kalyan C, Kamat Vishal, Brydges Susannah, Troncone Luca, Johnsen Laura, Yu Paul B, Fazio Sergio, Lees-Shepard John, Schutz Kevin, Murphy Andrew J, Economides Aris N, Idone Vincent, Hatsell Sarah J
Abstract excerpt
Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder whose most debilitating pathology is progressive and cumulative heterotopic ossification (HO) of skeletal muscles, ligaments, tendons, and fascia. FOP is caused by mutations in the type I BMP receptor gene ACVR1, which enable ACVR1 to utilize its natural antagonist, activin A, as an agonistic ligand. The physiological relevance of this...
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