Article

Correction of Niemann-Pick type C1 disease with the histone deacetylase inhibitor valproic acid

2019-08-04

Abstract excerpt

Niemann-Pick type C (NPC) disease is primarily caused by mutations in the NPC1 gene and is characterized by the accumulation of unesterified cholesterol and lipids in the late endosomal (LE) and lysosomal (Ly) compartments. The most prevalent disease-linked mutation is the I1061T variant of NPC1, which exhibits defective folding and trafficking from the endoplasmic reticulum to the LE/Ly compartments. We now show...

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Literature Corpus work: 05f44f89-332d-54ba-be50-ccfcad2f6b09
DOI: 10.1101/724187

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