Title : Activation of mammalian terget of rapamycin kinase and glycogen synthase kinase-3β accompanies abnormal accumulation of cholesterol in fibroblasts from Niemann-Pick type C patients.

Pub. Date : 2019 Apr

PMID : 30390318






3 Functional Relationships(s)
Download
Sentence
Compound Name
Protein Name
Organism
1 It was found that accumulation of cholesterol and glycolipids in the late endosomal/lysosomal compartment of NPC1 cells may affect mitochondrial functions. Cholesterol NPC intracellular cholesterol transporter 1 Homo sapiens
2 MATERIALS AND METHODS: In this study, primary skin fibroblasts derived from skin biopsies of two anonymous patients with NPC-carrying mutations in the NPC1 gene, characterized by a high total cholesterol content, as well as two healthy donors were used. Cholesterol NPC intracellular cholesterol transporter 1 Homo sapiens
3 RESULTS: In this report, we provide experimental evidence that in NPC1 cells, dysfunction of mitochondria and cellular metabolism, as reported by Wos et al in 2016, coexist with alterations in signal transduction pathways, such as the mammalian target of rapamycin, AKT, phosphoinositide-dependent protein kinase-1, glycogen synthase kinase-3 beta, and Jun amino-terminal kinase, leading to abnormal cholesterol accumulation and distribution. Cholesterol NPC intracellular cholesterol transporter 1 Homo sapiens