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NPC1 enables cholesterol mobilization during long‐term potentiation that can be restored in Niemann–Pick disease type C by CYP46A1 activation
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 psychiatric alterations are hallmarks in NPC patie...
Autores principales: | Mitroi, Daniel N, Pereyra‐Gómez, Guadalupe, Soto‐Huelin, Beatriz, Senovilla, Fernando, Kobayashi, Toshihide, Esteban, Jose A, Ledesma, María Dolores |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6832102/ https://www.ncbi.nlm.nih.gov/pubmed/31535451 http://dx.doi.org/10.15252/embr.201948143 |
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