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Article

NPC1 and NPC2 regulate cellular cholesterol homeostasis through generation of low density lipoprotein cholesterol-derived oxysterols.

The Journal of biological chemistry - 11 Jul 2003

Frolov Andrey, Zielinski Sarah E, Crowley Jan R, Dudley-Rucker Nicole, Schaffer Jean E, Ory Daniel S

Abstract excerpt

Mutations in the Niemann-Pick disease genes cause lysosomal cholesterol accumulation and impaired low density lipoprotein (LDL) cholesterol esterification. These findings have been attributed to a block in cholesterol movement from lysosomes to the site of the sterol regulatory machinery. In this study we show that Niemann-Pick type C1 (NPC1) and Niemann-Pick type C2 (NPC2) mutants have increased cellular...

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Source

Identifiers

PMID: 12719428
DOI: 10.1074/jbc.M302588200

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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