Efficacy of N-acetylcysteine in phenotypic suppression of mouse models of Niemann–Pick disease, type C1

Abstract excerpt

Niemann-Pick disease, type C1 (NPC1), which arises from a mutation in the NPC1 gene, is characterized by abnormal cellular storage and transport of cholesterol and other lipids that leads to hepatic disease and progressive neurological impairment. Oxidative stress has been hypothesized to contribute to the NPC1 disease pathological cascade. To determine whether treatments reducing oxidative stress could alleviate...

Topics

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

• Share to Calcium signaling and nucleotide metabolism
• Share to Carbohydrate Chemistry and Synthesis
• Share to Lysosomal Storage Disorders Research