Ceramide phosphoethanolamine synthase SMSr is a target of caspase-6 during apoptotic cell death

por Cabukusta, Birol, Nettebrock, Niclas T., Kol, Matthijs, Hilderink, Angelika, Tafesse, Fikadu G., Holthuis, Joost C.M.
Publicado 2017

ER residency of the ceramide phosphoethanolamine synthase SMSr relies on homotypic oligomerization mediated by its SAM domain

por Cabukusta, Birol, Kol, Matthijs, Kneller, Laura, Hilderink, Angelika, Bickert, Andreas, Mina, John G. M., Korneev, Sergei, Holthuis, Joost C. M.
Publicado 2017

Optical manipulation of sphingolipid biosynthesis using photoswitchable ceramides

por Kol, Matthijs, Williams, Ben, Toombs-Ruane, Henry, Franquelim, Henri G, Korneev, Sergei, Schroeer, Christian, Schwille, Petra, Trauner, Dirk, Holthuis, Joost CM, Frank, James A
Publicado 2019

Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2

por Pekkinen, Minna, Terhal, Paulien A., Botto, Lorenzo D., Henning, Petra, Mäkitie, Riikka E., Roschger, Paul, Jain, Amrita, Kol, Matthijs, Kjellberg, Matti A., Paschalis, Eleftherios P., van Gassen, Koen, Murray, Mary, Bayrak-Toydemir, Pinar, Magnusson, Maria K., Jans, Judith, Kausar, Mehran, Carey, John C., Somerharju, Pentti, Lerner, Ulf H., Olkkonen, Vesa M., Klaushofer, Klaus, Holthuis, Joost C.M., Mäkitie, Outi
Publicado 2019