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Article

A human neuronal model of Niemann Pick C disease developed from stem cells isolated from patient’s skin

21 Feb 2013

Abstract excerpt

BACKGROUND: Niemann Pick C (NPC) disease is a neurovisceral lysosomal storage disorder due to mutations in NPC1 or NPC2 genes, characterized by the accumulation of endocytosed unesterified cholesterol, gangliosides and other lipids within the lysosomes/late endosomes. Even if the neurodegeneration is the main feature of the disease, the analysis of the molecular pathways linking the lipid accumulation and...

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PMID: 23433359
DOI: 10.1186/1750-1172-8-34

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