The lysosomal disease caused by mutant VPS33A

von Pavlova, Elena V, Shatunov, Aleksey, Wartosch, Lena, Moskvina, Alena I, Nikolaeva, Lena E, Bright, Nicholas A, Tylee, Karen L, Church, Heather J, Ballabio, Andrea, Luzio, J Paul, Cox, Timothy M
Veröffentlicht in Hum Mol Genet (2019)

Glucosylated cholesterol in mammalian cells and tissues: formation and degradation by multiple cellular β-glucosidases

von Marques, André R. A., Mirzaian, Mina, Akiyama, Hisako, Wisse, Patrick, Ferraz, Maria J., Gaspar, Paulo, Ghauharali-van der Vlugt, Karen, Meijer, Rianne, Giraldo, Pilar, Alfonso, Pilar, Irún, Pilar, Dahl, Maria, Karlsson, Stefan, Pavlova, Elena V., Cox, Timothy M., Scheij, Saskia, Verhoek, Marri, Ottenhoff, Roelof, van Roomen, Cindy P. A. A., Pannu, Navraj S., van Eijk, Marco, Dekker, Nick, Boot, Rolf G., Overkleeft, Herman S., Blommaart, Edward, Hirabayashi, Yoshio, Aerts, Johannes M.
Veröffentlicht in J Lipid Res (2016)