Modeling Niemann Pick type C1 using human embryonic and induced pluripotent stem cells

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• 作者：M. Paulina Ordoñ ; ez^a ; ^b ; ^{pordonez@ucsd.edu} ; John W. Steele^a
• 关键词：Niemann Pick type C1 ; Human embryonic stem cells ; Human induced pluripotent stem cells ; Neurodegeneration ; Models of disease ; Drug screening ; Autophagy
• 刊名：Brain Research
• 出版年：2017
• 出版时间：1 February 2017
• 年：2017
• 卷：1656
• 期：Complete
• 页码：63-67
• 全文大小：266 K
• 卷排序：1656

文摘

NPC1 is a rare pediatric dementia that leads to severe neuronal degeneration. NPC1 shares clinical and pathological features with Alzheimer׳s disease (AD). Approaches using animal models have not rendered an FDA-approved therapy. Autophagy disruption may play a key role in NPC1 pathogenesis. Genome editing and human stem cells can accelerate drug discovery in NPC1.