ACTL6A impacts GSH de novo synthesis mainly by upregulating -glutamyl-cysteine synthesis To further assess the mechanism by which ACTL6A regulates GSH metabolism, we investigated the metabolic fate of U- 13 C glucose by liquid chromatography with mass spectrometry (LCMS), which produces -GC containing two 13 C atoms via GSH de novo synthesis pathway, GSH containing two 13 C atoms via GSH de novo synthesis or the SGOC pathway, or four 13 C atoms via both pathways (Fig
These studies indicate the potential of utilizing the de novo pathway, a less extensively studied pathway, as a therapeutic strategy for metabolic diseases Barth syndrome is a rare disease caused by mutations in the tafazzin gene encoding for cardiolipin (CL), a phospholipid specific for the mitochondria 303
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