Emile VAN SCHAFTINGEN

This study identifies two yeast enzymes, Env9 and Tda5, that perform distinct steps in dolichol biosynthesis, replacing the dual role of DHRSX in humans.

This study identifies XPR1 as a regulator of GSDMD-independent IL-1β secretion in human monocytic cells, linking it to phosphate export and revealing a novel pathway for cytokine release.

This study identifies DHRSX gene absence as the cause of dolichol synthesis defect in Lec5 and Lec9 CHO cells, correcting N-glycosylation defects through DHRSX complementation.

The paper identifies mutations in the C2orf69 gene as the cause of a human multisystem disorder characterized by autoinflammation, leukoencephalopathy, and hepatopathy.