2023
Cholesterol-dependent homeostatic regulation of very long chain sphingolipid synthesis
Kim Y, Mavodza G, Senkal C, Burd C. Cholesterol-dependent homeostatic regulation of very long chain sphingolipid synthesis. Journal Of Cell Biology 2023, 222: e202308055. PMID: 37787764, PMCID: PMC10547602, DOI: 10.1083/jcb.202308055.Peer-Reviewed Original ResearchConceptsPlasma membraneEpidermal growth factor receptor signalingMembrane lipid homeostasisGrowth factor receptor signalingAcute cholesterol depletionCellular cholesterol homeostasisPlasma membrane cholesterol contentCellular cholesterol levelsMembrane lipid packingSterol-responsive elementMembrane cholesterol contentProtein translationCytoplasmic leafletCholesterol depletionSphingolipid synthesisGolgi apparatusProtein pathwayResponsive elementLipid homeostasisRegulatory axisReceptor signalingLysosome membraneSphingomyelin synthesisAccumulation of cholesterolMetabolic axis
2022
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 ResearchConceptsSecretory pathwayER export signalPatient-derived fibroblastsFull enzymatic activityPhysical membrane propertiesExport signalSterol gradientLipid landscapeMammalian cellsCholesterol organizationLipid orderEnzymatic activityLipid distributionOsteogenic cellsPathwayBone phenotypeSMS2Glycerophospholipid profilePathogenic variantsCellsVariantsSphingomyelinSkeletal dysplasiaERSphingolipids