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Article

Advances in mass spectrometry of lipids for the investigation of Niemann-pick type C disease.

Lipids in health and disease - 30 Jul 2025

Javanshad Roshan, Li Wenping, Pathmasiri Koralege C, Cologna Stephanie M

Abstract excerpt

Niemann-Pick type C (NPC) disease is a devastating, fatal, neurodegenerative disease and a form of lysosomal storage disorder. It is caused by mutations in either NPC1 or NPC2 genes, leading to the accumulation of cholesterol and other lipids in the late endosome/lysosome system, a hallmark of the disease. Due to aberrant lipid trafficking in NPC, various techniques have been employed to study cholesterol and...

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Identifiers

PMID: 40739229
DOI: 10.1186/s12944-025-02675-7
PMCID: PMC12308988

Genes

NPC1
NPC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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