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Niemann-Pick C disease and mobilization of lysosomal cholesterol by cyclodextrin

Niemann-Pick type C (NPC) disease is a lysosomal storage disease in which endocytosed cholesterol becomes sequestered in late endosomes/lysosomes (LEs/Ls) because of mutations in either the NPC1 or NPC2 gene. Mutations in either of these genes can lead to impaired functions of the NPC1 or NPC2 prote...

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Autori principali: Vance, Jean E., Karten, Barbara
Natura: Artigo
Lingua:Inglês
Pubblicazione: The American Society for Biochemistry and Molecular Biology 2014
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4109756/
https://ncbi.nlm.nih.gov/pubmed/24664998
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1194/jlr.R047837
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