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Niemann–Pick type C disease proteins: orphan transporters or membrane rheostats?

Niemann–Pick type C (NPC) disease is a panethnic lysosomal lipidosis, which results in severe cerebellar impairment and death, and is proposed to be a consequence of defective metabolite transport. Numerous models of this disorder have defined the phenotypic impact of misfunction of the NPC proteins...

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Autores principales: Munkacsi, Andrew B, Porto, Anthony F, Sturley, Stephen L
Formato: Artigo
Lenguaje:Inglês
Publicado: 2007
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2704495/
https://ncbi.nlm.nih.gov/pubmed/19578548
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2217/17460875.2.3.357
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