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Altered transition metal homeostasis in Niemann-Pick disease, Type C1

The loss of NPC1 protein function is the predominant cause of Niemann-Pick type C1 disease (NP-C1), a systemic and neurodegenerative disorder characterized by late-endosomal/lysosomal accumulation of cholesterol and other lipids. Limited evidence from post-mortem human tissues, an Npc1(−/−) mouse mo...

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Detalhes bibliográficos
Main Authors: Hung, Ya Hui, Faux, Noel G., Killilea, David W., Yanjanin, Nicole, Firnkes, Sally, Volitakis, Irene, Ganio, George, Walterfang, Mark, Hastings, Caroline, Porter, Forbes D., Ory, Daniel S., Bush, Ashley I.
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4178950/
https://ncbi.nlm.nih.gov/pubmed/24343124
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1039/c3mt00308f
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