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Article

Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium.

Nature medicine - 1 Nov 2008

Lloyd-Evans Emyr, Morgan Anthony J, He Xingxuan, Smith David A, Elliot-Smith Elena, Sillence Daniel J, Churchill Grant C, Schuchman Edward H, Galione Antony, Platt Frances M

Abstract excerpt

Niemann-Pick type C1 (NPC1) disease is a neurodegenerative lysosomal storage disorder caused by mutations in the acidic compartment (which we define as the late endosome and the lysosome) protein, NPC1. The function of NPC1 is unknown, but when it is dysfunctional, sphingosine, glycosphingolipids, sphingomyelin and cholesterol accumulate. We have found that NPC1-mutant cells have a large reduction in the acidic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18953351
DOI: 10.1038/nm.1876

Genes

NPC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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