Doris Höglinger

I am interested in the lysosome; how it functions within the cellular environment and how dysfunction can lead to severe diseases. More specifically, I study Niemann-Pick disease type C (NPC), a rare, incurable disease caused by mutations in a lysosomal protein called NPC1.

As the function of NPC1 is not yet fully elucidated, we hypothesize that NPC1 might be involved in transporting different lipids such as cholesterol, sphingosine and other sphingolipids out of the lysosome. To investigate this in the context of living cells, I have developed a chemically modified sphingosine probe, which allow us to track its localization and transport. First experiments indeed showed that cells cultured from NPC patients are less able to clear sphingosine from lysosomes. Next, I will use this probe to evaluate the effects of different potential NPC therapies on sphingosine transport.