Article
Mevalonate kinase-deficient THP-1 cells show a disease-characteristic pro-inflammatory phenotype.
Frontiers in immunology - 1 Jan 2024
Politiek Frouwkje A, Turkenburg Marjolein, Ofman Rob, Waterham Hans R
Abstract excerpt
Objective: Bi-allelic pathogenic variants in the MVK gene, which encodes mevalonate kinase (MK), an essential enzyme in isoprenoid biosynthesis, cause the autoinflammatory metabolic disorder mevalonate kinase deficiency (MKD). We generated and characterized MK-deficient monocytic THP-1 cells to identify molecular and cellular mechanisms that contribute to the pro-inflammatory phenotype of MKD. Methods: Using...
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