Herbst Ruth, Huijbers Maartje G, Oury Julien, Burden Steven J
Center for Pathophysiology, Infectiology and Immunology, Medical University of Vienna, 1090 Vienna, Austria.
Department of Human Genetics, Leiden University Medical Centre LUMC, 2300 RC Leiden, the Netherlands.
Cold Spring Harb Perspect Biol. 2024 May 2;16(5):a041490. doi: 10.1101/cshperspect.a041490.
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, , , , and , 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.
运动神经元、骨骼肌细胞和施万细胞之间信号的协调与复杂相互作用控制着神经肌肉突触的形成和维持。关键基因突变或针对关键蛋白的自身抗体导致的突触构建信号通路缺陷，是几种神经肌肉疾病的病因，这些疾病会导致肌肉无力和疲劳。在这里，我们描述了四个关键基因——[此处原文缺失基因名称]——在该信号通路中所起的作用，对其作用机制的理解如何促成了对几种神经肌肉疾病的认识，以及这些知识如何为治疗神经肌肉疾病的新兴疗法做出了贡献。
