Article
Mutation in the CCAL1 locus accounts for bidirectional process of human subchondral bone turnover and cartilage mineralization.
Rheumatology (Oxford, England) - 23 Dec 2022
Rodríguez Ruiz Alejandro, van Hoolwerff Marcella, Sprangers Sara, Suchiman Eka, Schoenmaker Ton, Dibbets-Schneider Petra, Bloem Johan L, Nelissen Rob G H H, Freund Christian, Mummery Christine, Everts Vincent, de Vries Teun J, Ramos Yolande F M, Meulenbelt Ingrid
Abstract excerpt
OBJECTIVES: To study the mechanism by which the readthrough mutation in TNFRSF11B, encoding osteoprotegerin (OPG) with additional 19 amino acids at its C-terminus (OPG-XL), causes the characteristic bidirectional phenotype of subchondral bone turnover accompanied by cartilage mineralization in chondrocalcinosis patients. METHODS: OPG-XL was studied by human induced pluripotent stem cells expressing OPG-XL and two...
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