{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nMuscle‐specific kinase (MuSK) is a pivotal receptor tyrosine kinase that orchestrates neuromuscular junction (NMJ) formation and maintenance. In developing muscle, MuSK is activated by neural agrin via its interaction with the co‐receptor LRP4 and the intracellular adaptor Dok‑7, triggering a cascade that leads to the clustering of acetylcholine receptors (AChRs) and specialized postsynaptic differentiation. Fine regulation of its tyrosine kinase activity—mediated by specific extracellular domains, alternative splicing events, and Wnt‐related transcriptional cues—is essential to organize the synaptic architecture and sustain NMJ stability."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "10"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn autoimmune myasthenia gravis (MG), MuSK assumes the role of a critical autoantigen. Autoantibodies—largely of the IgG4 subclass—target defined epitopes of MuSK (notably within its extracellular immunoglobulin‐like domains), thereby disrupting its binding to LRP4 and abrogating agrin‐stimulated phosphorylation. This interference impairs the clustering of AChRs and the structural integrity of the NMJ, resulting in defective neuromuscular transmission and clinical weakness. Moreover, the diverse immune profiles, including cytokine imbalances and persistence of pathogenic B cell clones, further emphasize the centrality of intact MuSK signaling for neuromuscular health."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "11", "end_ref": "24"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn addition to its normal synaptic role, mutations in MUSK give rise to congenital myasthenic syndromes (CMS) with marked clinical heterogeneity. Both loss‐of‐function and gain‐of‐function alterations disrupt MuSK phosphorylation dynamics and its interactions with critical partners like Dok‑7 and LRP4, leading to defects in AChR clustering and aberrant NMJ architecture. These genetic perturbations underscore the importance of precise MuSK activity not only in synaptogenesis but also in the maintenance of neuromuscular integrity. Notably, novel isoforms and tissue‐specific expression (for example, in sperm) further expand the functional repertoire of MuSK, suggesting roles beyond the NMJ."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "25", "end_ref": "33"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Chang-Hoon Kim, Wen C Xiong, Lin Mei "}, {"type": "b", "children": [{"type": "t", "text": "Regulation of MuSK expression by a novel signaling pathway."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M305058200"}], "href": "https://doi.org/10.1074/jbc.M305058200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12885777"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12885777"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Kumiko Okada, Akane Inoue, Momoko Okada, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "Activation of muscle-specific receptor tyrosine kinase and binding to dystroglycan are regulated by alternative mRNA splicing of agrin."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M607887200"}], "href": "https://doi.org/10.1074/jbc.M607887200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17012237"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17012237"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Johko Hamuro, Osamu Higuchi, Kumiko Okada, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M708607200"}], "href": "https://doi.org/10.1074/jbc.M708607200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18165682"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18165682"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Ricardo A Maselli, Juan Arredondo, Orla Cagney, et al. 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