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It is likely that the addition of external CYP2E1 load into an in vitro system will exacerbate CYP2E1-mediated toxicity in U1 cells

Biochem Pharmacol 2022;205:115242

Because these patients symptoms skull asymmetry, infantile spasms, dwarfism, brain atrophy, sensory impairments, and glycosylation abnormalities resembled type II congenital disorder of glycosylation (CDG), this study established a link between Mn deficiency and hereditary CDG, showing that mutations in SLC39A8 can decrease the supply of Mn to the Golgi enzyme -1-galactosyltransferase, which is essential for glycoprotein biosynthesis

Overall, the developed DRG organoid system represents a valuable platform for modeling and testing therapeutic interventions for FRDA and other pathologies affecting the peripheral nervous system

It has also been shown to interact with the NO system, providing endothelial protection and angiogenic effects even in severely impaired conditions

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