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Article

The niemann-pick disease genes; regulators of cellular cholesterol homeostasis.

Trends in cardiovascular medicine - 1 Feb 2004

Ory Daniel S

Abstract excerpt

Cellular cholesterol homeostasis is maintained through activation of the designated sterol regulatory element binding proteins and liver X receptor transcriptional pathways. Insight into the molecular mechanisms that regulate these pathways has come from the study of Niemann-Pick C (NPC) disease. Mutations in the NPC1 and NPC2 disease genes lead to lysosomal accumulation of cholesterol and defects in regulation...

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Source

Identifiers

PMID: 15030792
DOI: 10.1016/j.tcm.2003.12.003

Genes

NPC1
NPC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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