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Autor:
Beatriz Soto-Huelin, Guadalupe Pereyra-Gómez, Maria Dolores Ledesma, José A. Esteban, Fernando Senovilla, Daniel N Mitroi, Toshihide Kobayashi
Publikováno v:
EMBO Reports
NPC is a neurodegenerative disorder characterized by cholesterol accumulation in endolysosomal compartments. It is caused by mutations in the gene encoding NPC1, an endolysosomal protein mediating intracellular cholesterol trafficking. Cognitive and