Correcting congenital myasthenia-associated acetylcholine receptor defects

Nature News ·

Correcting congenital myasthenia-associated acetylcholine receptor defects

Engel, A. G., Shen, X.-M., Selcen, D. & Sine, S. M. Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment. Lancet Neurol. 14 , 420–434 (2015). …

Engel, A. G., Shen, X.-M., Selcen, D. & Sine, S. M. Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment. Lancet Neurol. 14 , 420–434 (2015). Article PubMed PubMed Central Google Scholar Li, H., Teng, J. & Hibbs, R. E. Structural switch in acetylcholine receptors in developing muscle. Nature 632 , 1174–1180 (2024). Article ADS CAS PubMed PubMed Central Google Scholar Ramdas, S., Beeson, D. & Dong, Y. Y. Congenital myasthenic syndromes: increasingly complex. Curr. Opin. Neurol. 37 , 493–501 (2024). Rodríguez Cruz, P. M., Palace, J. & Beeson, D. The neuromuscular junction and wide heterogeneity of congenital myasthenic syndromes. Int. J. Mol. Sci. 19 , 1677 (2018). Shen, X.-M. et al. Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating. J. Clin. Investig. 111 , 497–505 (2003). Article CAS PubMed PubMed Central Google Scholar Shen, X.-M., Brengman, J. M., Edvardson, S., Sine, S. M. & Engel, A. G. Highly fatal fast-channel syndrome caused by AChR ɛ subunit mutation at the agonist binding site. Neurology 79 , 449–454 (2012). Article PubMed PubMed Central Google Scholar Cetin, H., Beeson, D., Vincent, A. & Webster, R. The structure, function, and physiology of the fetal and adult acetylcholine receptor in muscle. Front. Mol. Neurosci. 13 , 581097 (2020). Engel, A. G. The therapy of congenital myasthenic syndromes. Neurotherapeutics 4 , 252–257 (2007). …

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