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 |