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Article

Niemann-Pick type C disease: molecular mechanisms and potential therapeutic approaches.

Journal of neurochemistry - 1 Mar 2011

Rosenbaum Anton I, Maxfield Frederick R

Abstract excerpt

Cholesterol is an important lipid of mammalian cells. Its unique physicochemical properties modulate membrane behavior and it serves as the precursor for steroid hormones, oxysterols and vitamin D. Cholesterol is effluxed from the late endosomes/lysosomes via the concerted action of at least two distinct proteins: Niemann-Pick C (NPC)1 and NPC2. Mutations in these two proteins manifest as NPC disease - a very...

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Source

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Identifiers

PMID: 20807315
DOI: 10.1111/j.1471-4159.2010.06976.x
PMCID: PMC3008286

Genes

NPC2
NPC1

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.

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