Pathogenic variants of sphingomyelin synthase SMS2 disrupt lipid landscapes in the secretory pathway
Pathogenic variants of sphingomyelin synthase SMS2 disrupt lipid landscapes in the secretory pathway
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Author / Creator
Sokoya, Tolulope , Parolek, Jan , Foged, Mads Møller , Danylchuk, Dmytro I , Bozan, Manuel , Sarkar, Bingshati , Hilderink, Angelika , Philippi, Michael , Botto, Lorenzo D , Terhal, Paulien A , Mäkitie, Outi , Piehler, Jacob , Kim, Yeongho , Burd, Christopher G , Klymchenko, Andrey S , Maeda, Kenji and Holthuis, Joost C M
Publisher
England: eLife Science Publications, Ltd
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English
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Publisher
England: eLife Science Publications, Ltd
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Contents
Sphingomyelin is a dominant sphingolipid in mammalian cells. Its production in the
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 pr...
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Full title
Pathogenic variants of sphingomyelin synthase SMS2 disrupt lipid landscapes in the secretory pathway
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TN_cdi_doaj_primary_oai_doaj_org_article_420811a13b754b8b97db2aafb7c04c32
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_420811a13b754b8b97db2aafb7c04c32
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ISSN
2050-084X
E-ISSN
2050-084X
DOI
10.7554/eLife.79278
