The neuromuscular junction (NMJ) is a specialized synapse that is the point of connection between motor neurons and skeletal muscle. Although developmental studies have established the importance of cell-cell communication at the NMJ for the integrity and full functionality of this synapse, the contribution of this structure as a primary driver in motor neuron disease pathogenesis remains uncertain. Here, we consider the biology of the NMJ and review emerging lines of investigation that are highlighting the importance of cell-cell interaction at the NMJ in spinal muscular atrophy (SMA), X-linked spinal and bulbar muscular atrophy (SBMA), and amyotrophic lateral sclerosis (ALS). Ongoing research may reveal NMJ targets and pathways whose therapeutic modulation will help slow the progression of motor neuron disease, offering a novel treatment paradigm for ALS, SBMA, SMA, and related disorders.

中文翻译：

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失去和谐：运动神经元疾病中神经肌肉连接处的细胞间通讯

神经肌肉接头 (NMJ) 是一种特殊的突触，是运动神经元和骨骼肌之间的连接点。尽管发育研究已经确定了 NMJ 的细胞间通讯对于该突触的完整性和完整功能的重要性，但该结构作为运动神经元疾病发病机制的主要驱动因素的贡献仍不确定。在这里，我们考虑了 NMJ 的生物学，并回顾了新兴的研究方向，这些研究强调了 NMJ 的细胞间相互作用在脊髓性肌萎缩症 (SMA)、X 连锁脊髓和延髓肌萎缩症 (SBMA) 以及肌萎缩性肌萎缩症中的重要性。侧索硬化症（ALS）。正在进行的研究可能会揭示 NMJ 目标和通路，其治疗调节将有助于减缓运动神经元疾病的进展，