Title : A human neuronal model of Niemann Pick C disease developed from stem cells isolated from patient's skin.

Pub. Date : 2013 Feb 21

PMID : 23433359






1 Functional Relationships(s)
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1 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. Gangliosides NPC intracellular cholesterol transporter 1 Homo sapiens