Article
Succinate supplementation ameliorates musculoskeletal defects caused by PLOD3 mutations in a BCARD syndrome model.
Genome medicine - 13 Mar 2026
Choudhary Dharmendra, Unlu Gokhan, Nagai Taylor H, Melville David B, Scalici Alexandra, Hashem Mais O, Ritter Dylan J, Schmidt Georg, Guthrie Cory L, Gamazon Eric R, Alkuraya Fowzan S, Cox Nancy J, Knapik Ela W
Abstract excerpt
BACKGROUND: BCARD syndrome is a rare complex connective tissue disorder associated with variants in the PLOD3 gene, presenting with musculoskeletal, vascular, and sensory deficits. The role of PLOD3 in post-translational modifications of collagens has been established. However, limited treatment options exist to correct connective tissue deficits linked to PLOD3, largely due to sparse knowledge of cellular and...
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