Article
Pathogenic ACVR1R206H activation by Activin A-induced receptor clustering and autophosphorylation.
The EMBO journal - 15 Jul 2021
Ramachandran Anassuya, Mehić Merima, Wasim Laabiah, Malinova Dessislava, Gori Ilaria, Blaszczyk Beata K, Carvalho Diana M, Shore Eileen M, Jones Chris, Hyvönen Marko, Tolar Pavel, Hill Caroline S
Abstract excerpt
Fibrodysplasia ossificans progressiva (FOP) and diffuse intrinsic pontine glioma (DIPG) are debilitating diseases that share causal mutations in ACVR1, a TGF-β family type I receptor. ACVR1R206H is a frequent mutation in both diseases. Pathogenic signaling via the SMAD1/5 pathway is mediated by Activin A, but how the mutation triggers aberrant signaling is not known. We show that ACVR1 is essential for Activin...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.