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

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 i...

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Detalhes bibliográficos
Main Authors: Bergamin, Natascha, Dardis, Andrea, Beltrami, Antonio, Cesselli, Daniela, Rigo, Silvia, Zampieri, Stefania, Domenis, Rossana, Bembi, Bruno, Beltrami, Carlo Alberto
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2013
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3648447/
https://ncbi.nlm.nih.gov/pubmed/23433359
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-34
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