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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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Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: Singhal, Ashutosh, Krystofiak, Evan S., Jerome, W. Gray, Song, Byeongwoon
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2020
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7250861/
https://ncbi.nlm.nih.gov/pubmed/32457374
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-020-65627-4
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