Targeting defective sphingosine kinase 1 in Niemann–Pick type C disease with an activator mitigates cholesterol accumulation

Niemann–Pick type C (NPC) disease is a lysosomal storage disorder arising from mutations in the cholesterol-trafficking protein NPC1 (95%) or NPC2 (5%). These mutations result in accumulation of low-density lipoprotein-derived cholesterol in late endosomes/lysosomes, disruption of endocytic traffick...

Полное описание

Сохранить в:
Библиографические подробности
Опубликовано в: :J Biol Chem
Главные авторы: Newton, Jason, Palladino, Elisa N. D., Weigel, Cynthia, Maceyka, Michael, Gräler, Markus H., Senkal, Can E., Enriz, Ricardo D., Marvanova, Pavlina, Jampilek, Josef, Lima, Santiago, Milstien, Sheldon, Spiegel, Sarah
Формат: Artigo
Язык:Inglês
Опубликовано: American Society for Biochemistry and Molecular Biology 2020
Предметы:
Lipids
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC7335787/
https://ncbi.nlm.nih.gov/pubmed/32385114
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.RA120.012659
Метки: Добавить метку
Нет меток, Требуется 1-ая метка записи!

Схожие документы