Human pluripotent stem cell model of multiple epiphyseal dysplasia with MATN3 mutation identifies altered Matrix organisation and upregulation of the cholesterol biosynthesis pathway
Woods Jon S, Nicola Bates, Stuart A. Cain, Paul A. Humphreys, Fabrizio E. Mancini, Brenda Aguero Burgos, Peter Harley, Rayed Ali A. Alqahtani, Witchayapon Kamprom, Aleksandr Mironov, Antony D. Adamson, Ian J. Donaldson, Geert R. Mortier, Kate Chandler, Anna Nicolaou, , Susan J. Kimber
This study uses hPSCs to model MED with MATN3 mutations, revealing altered matrix organisation and upregulated cholesterol biosynthesis pathway.
Osteoarthritis and Cartilage · Feb 4, 2026Peer-reviewedCell Biology