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Article

Disease-associated mutations in Niemann-Pick type C1 alter ER calcium signaling and neuronal plasticity

10 Oct 2019

Abstract excerpt

Niemann-Pick type C1 (NPC1) protein is essential for the transport of externally derived cholesterol from lysosomes to other organelles. Deficiency of NPC1 underlies the progressive NPC1 neurodegenerative disorder. Currently, there are no curative therapies for this fatal disease. Given the Ca2+ hypothesis of neurodegeneration, which posits that altered Ca2+ dynamics contribute to neuropathology, we tested if...

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PMID: 31601621
DOI: 10.1083/jcb.201903018

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