NPC1


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NPC1

A gene on chromosome 18q11-q12 that encodes a large protein residing in the limiting membrane of endosomes and lysosomes, which mediates intracellular cholesterol trafficking by binding cholesterol to its N-terminal domain.
 
Molecular pathology
NPC1 mutations are linked to Niemann-Pick disease, type C1.
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In several pre-clinical experiments using cells from NPC1 patients, the researchers determined that the compound could bind to AMPK, turning on its activity and the autophagy process, resulting in a drop in accumulated cholesterol in NPC1 cells.
Our findings provide important new insights into the mechanism of action by which cyclodextrin reduces cholesterol buildup in NPC1 cells and eventually restores a balance, said Marugan, who is acting branch chief of the NCATS Chemical Genomics Center.
NPC1 is a lysosomal storage disease, characterized by too much cholesterol and other lipids in the cells lysosomes, which are sacs of enzymes that break apart proteins, fats and other materials for recycling.
Caption: The Ebola virus hijacks a protein called NPC1 to invade a host cell, as seen in this illustration.
Figures 6, 7 and 8 show the chloride penetration of NPC1 and FRC12M at cyclic loading of 30%, 50% and 70% stress level at different number of cycles.
When the concrete was subjected to cyclic loading of 70%, both NPC1 and FRC12M showed an increase of chloride penetration with the increase of loading cycles (Fig.
Our work in NPC1 mice may help lead to human clinical trials and eventually FDA approval for gene therapy as a treatment for NPC1 disease, said Charles P.
The researchers work on gene therapy for NPC1 also has the potential to treat genetic disorders with some similar features.