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Disease-associated mutations in Niemann-Pick type C1 alter ER calcium signaling and neuronal plasticity

Niemann-Pick type C1 (NPC1) protein is essential for the transport of externally derived cholesterol from lysosomes to other organelles. Deficiency of NPC1 underlies the progressive NPC1 neurodegenerative disorder. Currently, there are no curative therapies for this fatal disease. Given the Ca(2+) h...

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Detalles Bibliográficos
Autores principales: Tiscione, Scott A., Vivas, Oscar, Ginsburg, Kenneth S., Bers, Donald M., Ory, Daniel S., Santana, Luis F., Dixon, Rose E., Dickson, Eamonn J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Rockefeller University Press 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6891088/
https://www.ncbi.nlm.nih.gov/pubmed/31601621
http://dx.doi.org/10.1083/jcb.201903018