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

Abstract 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...

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Bibliographic Details
Main Authors: Roshan Javanshad, Wenping Li, Koralege C. Pathmasiri, Stephanie M. Cologna
Format: Article
Language:English
Published: BMC 2025-07-01
Series:Lipids in Health and Disease
Online Access:https://doi.org/10.1186/s12944-025-02675-7
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