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The role of Niemann-Pick type C2 in zebrafish embryonic development

15 Mar 2021

Abstract excerpt

Niemann-Pick disease type C (NPC) is a rare, fatal, neurodegenerative lysosomal disease caused by mutations of either NPC1 or NPC2. NPC2 is a soluble lysosomal protein that functions in coordination with NPC1 to efflux cholesterol from the lysosomal compartment. Mutations of either gene result in the accumulation of unesterified cholesterol and other lipids in the late endosome/lysosome, and reduction of cellular...

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PMID: 33722902
DOI: 10.1242/dev.194258

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