Interplay between ALK2R206H mutant receptor and autophagy signaling regulates receptor stability and its chondrogenic functions

Interplay between ALK2R206H mutant receptor and autophagy signaling regulates receptor stability and its chondrogenic functions

Abstract Heterozygous mutations in the Bone morphogenetic protein (BMP) type I receptor ACVR1, encoding activin-like kinase 2 (ALK2), underlie all cases of the rare genetic musculoskeletal disorder Fibrodysplasia Ossificans Progressiva (FOP). The most commonly found mutant ALK2 p.R206H receptor vari...

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Main Authors: Laura Coculo, Marius Wits, Irene Mariani, Giulia Fianco, Serena Cappato, Renata Bocciardi, Nicoletta Pedemonte, Elisabetta Volpe, Serena Ciolfi, Rosario Luigi Sessa, Serena Rinaldo, Francesca Cutruzzolà, Daniela Trisciuoglio, Marie-Josè Goumans, Gonzalo Sanchez-Duffhues, Venturina Stagni
Format: Article
Language:English
Published: Nature Publishing Group 2025-03-01
Series:Cell Death Discovery
Online Access:https://doi.org/10.1038/s41420-025-02393-0
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