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Article

Protein replacement therapy partially corrects the cholesterol-storage phenotype in a mouse model of Niemann-Pick type C2 disease.

PloS one - 1 Jan 2011

Nielsen Gitte Krogh, Dagnaes-Hansen Frederik, Holm Ida Elisabeth, Meaney Steve, Symula Derek, Andersen Niels Trolle, Heegaard Christian Würtz

Abstract excerpt

Niemann-Pick type C2 (NPC2) disease is a fatal autosomal recessive neurovisceral degenerative disorder characterized by late endosomal-lysosomal sequestration of low-density lipoprotein derived cholesterol. The breach in intracellular cholesterol homeostasis is caused by deficiency of functional NPC2, a soluble sterol binding protein targeted to the lysosomes by binding the mannose-6-phosphate receptor. As...

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Identifiers

PMID: 22073306
DOI: 10.1371/journal.pone.0027287
PMCID: PMC3207855

Genes

NPC2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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