The effect of Torin1, an mTORC1 kinase inhibitor, on Niemann-Pick type C disease cellular phenotype.

Nagase, Hiroko.


  • Abstract: Niemann-Pick type C disease (NPC), one of more than 50 lysosomal storage diseases, is characterized by the lysosomal accumulation of unesterified cholesterol. Most lysosomal storage diseases do not have curative therapies available and NPC is no exception. NPC is a fatal neurovisceral disease and the majority of patients succumb to death by late-teens to early adult-hood years. ... read more
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