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Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport

Niemann–Pick C (NPC) disease is a fatal neurodegenerative disorder characterized by a lysosomal accumulation of cholesterol and other lipids within the cells of patients. Clinically identical forms of NPC disease are caused by defects in either of two different proteins: NPC1, a lysosomal–endosomal...

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Hlavní autoři: Sleat, David E., Wiseman, Jennifer A., El-Banna, Mukarram, Price, Sandy M., Verot, Lucie, Shen, Michael M., Tint, G. Stephen, Vanier, Marie T., Walkley, Steven U., Lobel, Peter
Médium: Artigo
Jazyk:Inglês
Vydáno: National Academy of Sciences 2004
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC395893/
https://ncbi.nlm.nih.gov/pubmed/15071184
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0308456101
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