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Prior studies in cancer cell lines showed that ABHD11 deficiency leads to 2-OG accumulation, which drives the formation of the l-enantiomeric ( S) form of 2-hydroxyglutarate (2-HG) and subsequent inactivation of 2-OGDDs involved in the HIF pathway (prolyl hydroxylases, PHDs), histone marks (for example, lysine demethylases, KDMs) and DNA methylation (for example, ten-eleven translocation,TET enzymes) 16,22,23
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OCA OCA Primary Biliary Cholangitis: 8 known genetic forms, with the most common being OCA1, OCA2, OCA3, and OCA4 Results from mutations in genes Genes A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms
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