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Image-based screen capturing misfolding status of Niemann-Pick type C1 identifies potential candidates for chaperone drugs
Niemann-Pick disease type C is a rare, fatal neurodegenerative disorder characterized by massive intracellular accumulation of cholesterol. In most cases, loss-of-function mutations in the NPC1 gene that encodes lysosomal cholesterol transporter NPC1 are responsible for the disease, and more than ha...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7735562/ https://www.ncbi.nlm.nih.gov/pubmed/33315900 http://dx.doi.org/10.1371/journal.pone.0243746 |