Multisystemic Disease Modeling of Liver-Derived Protein Folding Disorders Using Induced Pluripotent Stem Cells (iPSCs).
Multisystemic Disease Modeling of Liver-Derived Protein Folding Disorders Using Induced Pluripotent Stem Cells (iPSCs).
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使用诱导多能干细胞 (iPSC) 建立肝源性蛋白质折叠紊乱的多系统疾病模型。
DOI：
10.1007/7651_2014_194
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发表时间：
2016
期刊：
影响因子：
--
通讯作者：
Murphy,GeorgeJ
中科院分区：
文献类型：
--
作者：
Leung,Amy;Murphy,GeorgeJ
家族性转甲状腺素淀粉样变性是一种常染色体显性遗传性蛋白质折叠疾病，由100多个不同的转甲状腺蛋白基因突变引起。在ATTR中，从肝脏分泌的蛋白质在靶器官(主要是心脏和外周神经系统)聚集并形成纤维，这突显了需要一个能够概括这种临床可变疾病的多系统复杂性的模型。在这里，我们描述了将特定于疾病的IPSCs定向分化为产生突变蛋白的肝细胞和经常作为疾病靶点的神经系细胞的详细方法。还描述了使用IPSCs构建多系统模型和药物筛选的方法。
Familial transthyretin amyloidosis (ATTR) is an autosomal dominant protein-folding disorder caused by over 100 distinct mutations in the transthyretin (TTR) gene. In ATTR, protein secreted from the liver aggregates and forms fibrils in target organs, chiefly the heart and peripheral nervous system, highlighting the need for a model capable of recapitulating the multisystem complexity of this clinically variable disease. Here, we describe detailed methodologies for the directed differentiation of protein folding disease-specific iPSCs into hepatocytes that produce mutant protein, and neural-lineage cells often targeted in disease. Methodologies are also described for the construction of multisystem models and drug screening using iPSCs.
DOI：
10.1073/pnas.0400062101
发表时间：
2004-03-02
影响因子：
11.1
作者：
Reixach, N;Deechongkit, S;Buxbaum, JN
通讯作者：
Buxbaum, JN
影响因子：
158.5
作者：
Jacobson, DR;Pastore, RD;Buxbaum, JN
通讯作者：
Buxbaum, JN