The proteasome inhibitor bortezomib reduced cholesterol accumulation in fibroblasts from Niemann–Pick type C patients carrying missense mutations

Abstract excerpt

Niemann-Pick disease type C (NPC) is a lipid storage disorder mainly caused by mutations in the NPC1 gene. Approximately 60% of these mutations are missense changes that may induce reduced NPC1 protein levels by increased degradation via ubiquitin-proteasome. This is the case for the most prevalent worldwide mutation, p.Ile1061Thr, as well as for other three missense changes. In the present study, we analyzed the...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Autoimmune and Inflammatory Disorders Research
• Share to Carbohydrate Chemistry and Synthesis
• Share to Lysosomal Storage Disorders Research