Pathogenic variants of sphingomyelin synthase SMS2 disrupt lipid landscapes in the secretory pathway
Sokoya T, Parolek J, Foged M, Danylchuk D, Bozan M, Sarkar B, Hilderink A, Philippi M, Botto L, Terhal P, Mäkitie O, Piehler J, Kim Y, Burd C, Klymchenko A, Maeda K, Holthuis J. Pathogenic variants of sphingomyelin synthase SMS2 disrupt lipid landscapes in the secretory pathway. ELife 2022, 11: e79278. PMID: 36102623, PMCID: PMC9531943, DOI: 10.7554/elife.79278.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsCholesterolGlycerophospholipidsMammalsMiceMice, KnockoutSecretory PathwaySphingomyelinsTransferases (Other Substituted Phosphate Groups)ConceptsSecretory pathwayER export signalPatient-derived fibroblastsFull enzymatic activityPhysical membrane propertiesExport signalSterol gradientLipid landscapeMammalian cellsCholesterol organizationLipid orderEnzymatic activityLipid distributionOsteogenic cellsPathwayBone phenotypeSMS2Glycerophospholipid profilePathogenic variantsCellsVariantsSphingomyelinSkeletal dysplasiaERSphingolipids