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A human iPSC-derived inducible neuronal model of Niemann-Pick disease, type C1

BACKGROUND: Niemann-Pick disease, type C (NPC) is a childhood-onset, lethal, neurodegenerative disorder caused by autosomal recessive mutations in the genes NPC1 or NPC2 and characterized by impaired cholesterol homeostasis, a lipid essential for cellular function. Cellular cholesterol levels are ti...

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Detalles Bibliográficos
Autores principales: Prabhu, Anika V., Kang, Insung, De Pace, Raffaella, Wassif, Christopher A., Fujiwara, Hideji, Kell, Pamela, Jiang, Xuntian, Ory, Daniel S., Bonifacino, Juan S., Ward, Michael E., Porter, Forbes D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8485536/
https://www.ncbi.nlm.nih.gov/pubmed/34592985
http://dx.doi.org/10.1186/s12915-021-01133-x