PDF(Pubmed)
Abstract：
A coordinated and complex interplay of signals between motor neurons, skeletal muscle cells, and Schwann cells controls the formation and maintenance of neuromuscular synapses. Deficits in the signaling pathway for building synapses, caused by mutations in critical genes or autoantibodies against key proteins, are responsible for several neuromuscular diseases, which cause muscle weakness and fatigue. Here, we describe the role that four key genes, Agrin, Lrp4, MuSK, and Dok7, play in this signaling pathway, how an understanding of their mechanisms of action has led to an understanding of several neuromuscular diseases, and how this knowledge has contributed to emerging therapies for treating neuromuscular diseases.
摘要：
运动神经元之间信号的协调和复杂的相互作用，骨骼肌细胞,和雪旺氏细胞控制神经肌肉突触的形成和维持。构建突触的信号通路缺陷，由关键基因的突变或针对关键蛋白质的自身抗体引起，负责几种神经肌肉疾病，导致肌肉无力和疲劳。这里,我们描述了四个关键基因的作用，Agrin,Lrp4,MuSK,和Dok7，在这个信号通路中发挥作用，了解它们的作用机制如何导致对几种神经肌肉疾病的理解，以及这些知识如何为治疗神经肌肉疾病的新兴疗法做出贡献。
