2-Hydroxypropyl-gamma-cyclodextrin overcomes NPC1 deficiency by enhancing lysosome-ER association and autophagy

Niemann-Pick type C (NPC) disease is a fatal neurodegenerative disorder caused by mutations in NPC1 and NPC2 genes that result in an accumulation of cholesterol in lysosomes. The majority of children with NPC die in adolescence. Currently, no FDA-approved therapies exist for NPC and the mechanisms o...

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Detalles Bibliográficos
Autores principales: Singhal, Ashutosh, Krystofiak, Evan S., Jerome, W. Gray, Song, Byeongwoon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7250861/
https://www.ncbi.nlm.nih.gov/pubmed/32457374
http://dx.doi.org/10.1038/s41598-020-65627-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7250861/
https://www.ncbi.nlm.nih.gov/pubmed/32457374
http://dx.doi.org/10.1038/s41598-020-65627-4

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