Arantza Infante, Natividad Alcorta-Sevillano, Iratxe Macías, Leire Cabodevilla, Dalia Medhat, Brittany Lafaver, Tara K Crawford, Charlotte L Phillips, Ana M Bueno, Belén Sagastizabal, Maitane Arroyo, Ainara Campino, Daniela Gerovska, Marcos Araúzo-Bravo, Blanca Gener, Clara I Rodríguez
Qualitative alterations in type I collagen due to pathogenic variants in the COL1A1 or COL1A2 genes, result in moderate and severe Osteogenesis Imperfecta (OI), a rare disease characterized by bone fragility. The TGF-β signaling pathway is overactive in OI patients and certain OI mouse models, and inhibition of TGF-β through anti-TGF-β monoclonal antibody therapy in phase I clinical trials in OI adults is rendering encouraging results. However, the impact of TGF-β inhibition on osteogenic differentiation of mesenchymal stem cells from OI patients (OI-MSCs) is unknown...
May 13, 2024: Biomedicine & Pharmacotherapy