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Title: ACVR1 function in health and disease
Author: Valer, José Antonio
Sánchez de Diego, Cristina
Pimenta-Lopes, Carolina
Rosa López, José Luis
Ventura Pujol, Francesc
Keywords: Glioma
Displàsia fibrosa òssia
Fibrous dysplasia of bone
Issue Date: 1-Nov-2019
Publisher: MDPI
Abstract: 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.
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It is part of: Cells, 2019, vol. 8, num. 11, p. 1366
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ISSN: 2073-4409
Appears in Collections:Articles publicats en revistes (Ciències Fisiològiques)
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

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