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Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells
Niemann-Pick type C disease (NP-C) is a progressive lysosomal lipid storage disease caused by mutations in the NPC1 and NPC2 genes. NPC1 is essential for transporting cholesterol and other lipids out of lysosomes, but little is known about the mechanisms that control its cellular abundance and local...
Tallennettuna:
| Julkaisussa: | Hum Mol Genet |
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| Päätekijät: | , , , , , , , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Oxford University Press
2016
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5179952/ https://ncbi.nlm.nih.gov/pubmed/27378690 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddw204 |
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