Article

HSP90 inhibitors reduce cholesterol storage in Niemann-Pick type C1 mutant fibroblasts

2021-04-22

Abstract excerpt

Niemann Pick type C1 (NPC1) disease is a lysosomal lipid storage disorder caused by mutations of the NPC1 gene. More than 300 disease-associated mutations are reported in patients, resulting in abnormal accumulation of unesterified cholesterol, glycosphingolipids and other lipids in late endosomes and lysosomes (LE/Ly) of many cell types. Previously, we showed that treatment of many different NPC1 mutant fibrobl...

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Literature Corpus work: 723bd997-b02d-56ef-af7b-39689bc6ab2a
DOI: 10.1101/2021.04.22.440982

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