Pathogenic variants of sphingomyelin synthase SMS2 disrupt lipid landscapes in the secretory pathway
T. Sokoya, J. Parolek, M. M. Foged, D. I. Danylchuk, M. Bozan, B. Sarkar, A. Hilderink, M. Philippi, L. D. Botto, P. A. Terhal, O. Maekitie, J. Piehler, Y. Kim, C. G. Burd, A. S. Klymchenko, , J. C. M. Holthuis
The paper shows pathogenic SMS2 variants disrupt lipid landscapes in the secretory pathway by trapping sphingomyelin in the ER and altering cholesterol and glycerophospholipid distributions.
bioRxiv · Apr 2, 2022Cell Biology