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Article

Accumulation of glycosphingolipids in Niemann-Pick C disease disrupts endosomal transport.

The Journal of biological chemistry - 18 Jun 2004

te Vruchte Danielle, Lloyd-Evans Emyr, Veldman Robert Jan, Neville David C A, Dwek Raymond A, Platt Frances M, van Blitterswijk Wim J, Sillence Dan J

Abstract excerpt

Glycosphingolipids are endocytosed and targeted to the Golgi apparatus but are mistargeted to lysosomes in sphingolipid storage disorders. Substrate reduction therapy utilizes imino sugars to inhibit glucosylceramide synthase and potentially abrogate the effects of storage. Niemann-Pick type C (NPC) disease is a disorder of intracellular transport where glycosphingolipids (GSLs) and cholesterol accumulate in...

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Identifiers

PMID: 15078881
DOI: 10.1074/jbc.M311591200

Genes

NPC1

Variants

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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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