Article

N-Acetyl-l-Leucine (NALL) rescues inter-organelle communication in Niemann-Pick disease type-C patient cells

2025-04-28

Abstract excerpt

Niemann-Pick disease type-C (NPC) is a progressive neurodegenerative disease caused by loss-of-function mutations in NPC1 or NPC2 . In NPC patient cells lacking functional NPC proteins, lipids accumulate in lysosomes causing severe lysosomal storage disease. Surprisingly, lipid accumulation caused by defects in the lysosomal membrane protein NPC1 is strongly associated with mitochondrial dysfunction. The mechani...

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Literature Corpus work: 2940d470-0ce5-5741-a021-a45ee6aa1978
DOI: 10.1101/2025.04.27.650877

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