Pathogenic variants of sphingomyelin synthase SMS2 disrupt lipid landscapes in the secretory pathway
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DOI: 10.1101/2022.04.02.486804
Abstract: Sphingomyelin is a dominant sphingolipid in mammalian cells. Its production in the trans-Golgi traps cholesterol synthesized in the ER to promote formation of a sphingomyelin/sterol gradient along the secretory pathway. This gradient marks a fundamental… read more here.
Keywords: sphingomyelin synthase; sms2; sms2 variants; secretory pathway ... See more keywords