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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| 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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