Pub. Date : 2020 Mar 19
PMID : 32204338
3 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
1 | Mutations in the NPC1 gene, which accounts for 95% of the cases, lead to a defect in intra-lysosomal trafficking of cholesterol and an accumulation of storage material including cholesterol and sphingolipids in the endo-lysosomal system. | Cholesterol | NPC intracellular cholesterol transporter 1 | Homo sapiens |
2 | Mutations in the NPC1 gene, which accounts for 95% of the cases, lead to a defect in intra-lysosomal trafficking of cholesterol and an accumulation of storage material including cholesterol and sphingolipids in the endo-lysosomal system. | Cholesterol | NPC intracellular cholesterol transporter 1 | Homo sapiens |
3 | Biochemical analysis using HPLC and TLC indicated that lipid accumulations were mutation-dependent and correlated with the trafficking pattern of NPC1: higher levels of cholesterol and glycolipids were associated with the mutations that exhibited delayed intracellular trafficking, as compared to their WT-like trafficked or wild type (WT) counterparts. | Cholesterol | NPC intracellular cholesterol transporter 1 | Homo sapiens |