Niemann–Pick type C1 (NPC1) disease is caused by defects in the NPC1 protein, which
result in perturbation of subcellular cholesterol transport. To identify related proteins that …

Niemann-Pick disease was initially characterized by pathologic changes including
hepatosplenomegaly, sphingomyelin storage in the reticuloendothelial and peripheral …

Niemann–Pick C (NPC) disease is a recessive cholesterol storage disorder characterized by
severe, progressive neurodegeneration. The primary causative gene found on chromosome …

The Niemann-Pick type C1 (NPC1) protein is a key participant in intracellular trafficking of
low density lipoprotein cholesterol, but its role in regulation of sterol homeostasis is not well …

Cellular cholesterol homeostasis is maintained through activation of the designated sterol
regulatory element binding proteins and liver X receptor transcriptional pathways. Insight …

Niemann-Pick type C disease (NPC) is a rare neurodegenerative disorder characterised by
lysosomal/late endosomal accumulation of endocytosed unesterified cholesterol and …

Cholesterol homeostasis is essen-tial for the functional integrity of the cell (1). Both the
cellular content and distribution of cholesterol within the cell is highly dynamic and tightly …

The Niemann-Pick C1 (NPC1) protein is a key participant in intracellular sterol trafficking
and regulation of cholesterol homeostasis. NPC1 contains a pentahelical region that is …

Niemann‐Pick type C disease (NP‐C) is a rare, autosomal recessive lipid storage disorder.
At least 96% of all NP‐C patients link to NPC1 which encodes for a lysosomally‐targeted …

Mutations in the NPC1 gene cause Niemann-Pick type C disease, which appears to result
from a defect in intracellular cholesterol trafficking. NPC1 is a member of the resistance …