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ACVR1 Function in Health and Disease

Departament de Ciències Fisiològiques, Universitat de Barcelona, IDIBELL, L’Hospitalet de Llobregat, 08907 Barcelona, Spain
Author to whom correspondence should be addressed.
Cells 2019, 8(11), 1366;
Received: 1 October 2019 / Revised: 28 October 2019 / Accepted: 30 October 2019 / Published: 31 October 2019
(This article belongs to the Special Issue TGF-beta/BMP Signaling Pathway)
Activin A receptor type I (ACVR1) encodes for a bone morphogenetic protein type I receptor of the TGFβ receptor superfamily. It is involved in a wide variety of biological processes, including bone, heart, cartilage, nervous, and reproductive system development and regulation. Moreover, ACVR1 has been extensively studied for its causal role in fibrodysplasia ossificans progressiva (FOP), a rare genetic disorder characterised by progressive heterotopic ossification. ACVR1 is linked to different pathologies, including cardiac malformations and alterations in the reproductive system. More recently, ACVR1 has been experimentally validated as a cancer driver gene in diffuse intrinsic pontine glioma (DIPG), a malignant childhood brainstem glioma, and its function is being studied in other cancer types. Here, we review ACVR1 receptor function and signalling in physiological and pathological processes and its regulation according to cell type and mutational status. Learning from different functions and alterations linked to ACVR1 is a key step in the development of interdisciplinary research towards the identification of novel treatments for these pathologies.
Keywords: ACVR1; ALK2; DIPG (diffuse intrinsic pontine glioma), FOP (fibrodysplasia ossificans progressiva), AMH; activin; BMP; bone; heterotopic ossification; cancer ACVR1; ALK2; DIPG (diffuse intrinsic pontine glioma), FOP (fibrodysplasia ossificans progressiva), AMH; activin; BMP; bone; heterotopic ossification; cancer
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MDPI and ACS Style

Valer, J.A.; Sánchez-de-Diego, C.; Pimenta-Lopes, C.; Rosa, J.L.; Ventura, F. ACVR1 Function in Health and Disease. Cells 2019, 8, 1366.

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