Title : High-content imaging and structure-based predictions reveal functional differences between Niemann-Pick C1 variants.

Pub. Date : 2020 May

PMID : 32144825






3 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 Our results indicate that the L472P change present in NPC1 WT-V compromises NPC1 functionality in lysosomal cholesterol export. Cholesterol NPC intracellular cholesterol transporter 1 Homo sapiens
2 Our results indicate that the L472P change present in NPC1 WT-V compromises NPC1 functionality in lysosomal cholesterol export. Cholesterol NPC intracellular cholesterol transporter 1 Homo sapiens
3 All-atom molecular dynamics simulations suggest that the L472P change alters the relative position of the NPC1 middle and the C-terminal luminal domains, disrupting the recently characterized cholesterol efflux tunnel. Cholesterol NPC intracellular cholesterol transporter 1 Homo sapiens