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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...
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. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
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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 |
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