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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...

詳細記述

保存先:
書誌詳細
出版年:Sci Rep
主要な著者: Singhal, Ashutosh, Krystofiak, Evan S., Jerome, W. Gray, Song, Byeongwoon
フォーマット: Artigo
言語:Inglês
出版事項: Nature Publishing Group UK 2020
主題:
オンライン・アクセス: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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