Article

Pathogenic variants of sphingomyelin synthase SMS2 disrupt lipid landscapes in the secretory pathway

2022-04-03

Abstract excerpt

<h4>ABSTRACT</h4> 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 transition in physical membrane properties that help specify organelle identify and function. We previously identified mutations in sphingomye...

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Literature Corpus work: a0cdda93-aef7-50ea-9d98-cc4ff988575e
DOI: 10.1101/2022.04.02.486804

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