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...

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Detalles Bibliográficos
Autores principales: Shioi, Ryuta, Karaki, Fumika, Yoshioka, Hiromasa, Noguchi-Yachide, Tomomi, Ishikawa, Minoru, Dodo, Kosuke, Hashimoto, Yuichi, Sodeoka, Mikiko, Ohgane, Kenji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
Materias:
Research Article
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

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