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A human iPSC-derived inducible neuronal model of Niemann-Pick disease, type C1

1 Oct 2021

Abstract excerpt

Abstract Background Niemann-Pick disease, type C (NPC) is a childhood-onset, lethal, neurodegenerative disorder caused by autosomal recessive mutations in the genes NPC1 or NPC2 and characterized by impaired cholesterol homeostasis, a lipid essential for cellular function. Cellular cholesterol levels are tightly regulated, and mutations in either NPC1 or NPC2 lead to deficient transport and accumulation of...

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PMID: 34592985
DOI: 10.1186/s12915-021-01133-x

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