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Impaired proteolysis underlies autophagic dysfunction in Niemann–Pick type C disease

Niemann–Pick type C disease (NPC) is a childhood onset neurodegenerative disorder arising from lipid-trafficking defects caused by mutations in the NPC1 or NPC2 gene. Marked accumulation of autophagosomes is a prominent feature of NPC cells, yet a detailed understanding of the disease-associated alt...

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Detalhes bibliográficos
Main Authors: Elrick, Matthew J., Yu, Ting, Chung, Chan, Lieberman, Andrew P.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3607480/
https://ncbi.nlm.nih.gov/pubmed/22872701
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/dds324
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