Ankyrins in human health and disease - an update of recent experimental findings
Ankyrins in human health and disease - an update of recent experimental findings
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DOI：
10.5114/aoms.2019.89836
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发表时间：
2020-06-01
影响因子：
3.8
通讯作者：
Chmiela, Magdalena
中科院分区：
文献类型：
--
作者：
Chagula, Damian B.;Rechcinski, Tomasz;Chmiela, Magdalena
锚蛋白是在真核细胞中与离子通道蛋白、细胞粘附和信号传导分子以及细胞骨架组分形成复合物的接头分子。它们作为支架蛋白在肌肉膜的结构锚定、肌肉发育、神经发生和突触形成中发挥着关键作用。锚蛋白的功能障碍涉及许多疾病，例如遗传性球形红细胞增多症、浦肯野细胞神经变性、心律失常、Brugada综合征、双相情感障碍和精神分裂症、先天性肌病和先天性心脏病以及癌症。检测锚蛋白的下调或过度表达以及因此它们作为生物标志物的用途可以为这些疾病的诊断提供新的范例。本文概述了锚蛋白的结构知识，并利用最近的实验研究，批判性地讨论了它们在几种健康疾病中的作用。此外，利用工程锚蛋白，设计锚蛋白重复蛋白（DARPins）的治疗方案进行了讨论。
Ankyrins are adaptor molecules that in eukaryotic cells form complexes with ion channel proteins, cell adhesion and signalling molecules and components of the cytoskeleton. They play a pivotal role as scaffolding proteins, in the structural anchoring to the muscle membrane, in muscle development, neurogenesis and synapse formation. Dysfunction of ankyrins is implicated in numerous diseases such as hereditary spherocytosis, neurodegeneration of Purkinje cells, cardiac arrhythmia, Brugada syndrome, bipolar disorders and schizophrenia, congenital myopathies and congenital heart disease as well as cancers. Detecting either down- or over-expression of ankyrins and ergo their use as biomarkers can provide a new paradigm in the diagnosis of these diseases. This paper provides an outline of knowledge about the structure of ankyrins, and by making use of recent experimental research studies critically discusses their role in several health disorders. Moreover, therapeutic options utilizing engineered ankyrins, designed ankyrin repeat proteins (DARPins), are discussed.