iPS cells in the study of PD molecular pathogenesis.

iPS cells in the study of PD molecular pathogenesis.
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DOI:
10.1007/s00441-017-2749-y
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发表时间:
2018-07
影响因子:
3.6
通讯作者:
Finkbeiner S
Finkbeiner S
中科院分区:
生物学3区
文献类型:
--
作者:
Cobb MM;Ravisankar A;Skibinski G;Finkbeiner S

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帕金森病(PD)是第二常见的神经退行性疾病,其发病机制尚不清楚。大多数PD病例是散发的,但一些基因与家族性PD有关。散发性和家族性帕金森病具有许多共同的分子和细胞特征,提示有一些共同的致病机制。诱导多能干细胞(iPSCs)已经从患有一系列不同pd相关基因突变的患者中获得。PD患者来源的iPSCs已分化为相关的细胞类型,特别是多巴胺能神经元,并被用作PD研究的模型。在这篇综述中,我们描述了如何利用iPSCs来提高我们对帕金森病发病机制的理解。我们描述了在含有已知pd相关突变的iPSCs衍生的神经元中观察到的细胞和分子表型,以及可能涉及的共同途径。
Parkinson’s disease (PD) is the second most common neurodegenerative disease, and its pathogenic mechanisms are poorly understood. The majority of PD cases are sporadic, but a number of genes are associated with familial PD. Sporadic and familial PD have many molecular and cellular features in common, suggesting some shared pathogenic mechanisms. Induced pluripotent stem cells (iPSCs) have been derived from patients harboring a range of different mutations of PD-associated genes. PD patient-derived iPSCs have been differentiated into relevant cell types, in particular dopaminergic neurons, and used as a model to study PD. In this review, we describe how iPSCs have been used to improve our understanding of the pathogenesis of PD. We describe what cellular and molecular phenotypes have been observed in neurons derived from iPSCs harboring known PD-associated mutations, and what common pathways may be involved.
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