Title : Different Trafficking Phenotypes of Niemann-Pick C1 Gene Mutations Correlate with Various Alterations in Lipid Storage, Membrane Composition and Miglustat Amenability.

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