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Doris Höglinger, Ph.D.

European Blaschko Visiting Research Fellow

The roles of sphingosine in Niemann-Pick type C

Niemann-Pick Type C disease (NPC) is predominantly caused by mutations in the gene encoding for a lysosomal membrane protein called NPC1. The function of this protein however, is not yet elucidated. The Platt lab has previously identified the accumulation of a small lipid called sphingosine as the first detectable change upon inactivation of NPC1. We are using chemical biology tools to follow the localization of sphingosine in NPC cells. We are now investigating processes that affect trafficking of sphingosine in healthy and NPC disease cells

Key Points:

  • Sphingosine is the first lipid to accumulate when NPC1 is inhibited
  • We are using chemical biology tools to visualize sphingosine localization
  • A novel transport assay revealed a sphingosine transport defect in NPC cells


This work is supported by the European Blaschko Visiting Research Fellowship and the Rosetrees Trust.

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