{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T16:21:37Z","timestamp":1790785297217,"version":"4.1.0"},"reference-count":24,"publisher":"National Academy of Sciences","issue":"43","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2012,10,23]]},"abstract":"<jats:p>\n                    Mutations in muscle ACh receptors cause slow-channel syndrome (SCS) and Escobar syndrome, two forms of congenital myasthenia. SCS is a dominant disorder with mutations reported for all receptor subunits except \u03b3. Escobar syndrome is distinct, with mutations located exclusively in \u03b3, and characterized by developmental improvement of muscle function. The zebrafish mutant line,\n                    <jats:italic>twister<\/jats:italic>\n                    , models SCS in terms of a dominant mutation in the \u03b1 subunit (\u03b1\n                    <jats:sub>twi<\/jats:sub>\n                    ) but shows the behavioral improvement associated with Escobar syndrome. Here, we present a unique electrophysiological study into developmental improvement for a myasthenic syndrome. The embryonic \u03b1\n                    <jats:sub>twi<\/jats:sub>\n                    \u03b2\u03b4\u03b3 receptor isoform produces slowly decaying synaptic currents typical of SCS that transit to a much faster decay upon the appearance of adult \u03b5, despite the \u03b1\n                    <jats:sub>twi<\/jats:sub>\n                    mutation. Thus, the continued expression of \u03b1\n                    <jats:sub>twi<\/jats:sub>\n                    into adulthood is tolerated because of the \u03b5 expression and associated recovery, raising the likelihood of unappreciated myasthenic cases that benefit from the \u03b3\u2212\u03b5 switch.\n                  <\/jats:p>","DOI":"10.1073\/pnas.1215858109","type":"journal-article","created":{"date-parts":[[2012,10,9]],"date-time":"2012-10-09T00:26:58Z","timestamp":1349742418000},"page":"17711-17716","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":18,"title":["Zebrafish model for congenital myasthenic syndrome reveals mechanisms causal to developmental recovery"],"prefix":"10.1073","volume":"109","author":[{"given":"Michael","family":"Walogorsky","sequence":"first","affiliation":[{"name":"Vollum Institute and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca","family":"Mongeon","sequence":"additional","affiliation":[{"name":"Vollum Institute and"},{"name":"Howard Hughes Medical Institute, Oregon Health and Science University, Portland, OR 97239; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hua","family":"Wen","sequence":"additional","affiliation":[{"name":"Vollum Institute and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathan R.","family":"Nelson","sequence":"additional","affiliation":[{"name":"Vollum Institute and"},{"name":"Howard Hughes Medical Institute, Oregon Health and Science University, Portland, OR 97239; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jason M.","family":"Urban","sequence":"additional","affiliation":[{"name":"National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, Rockville, MD 20852"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fumihito","family":"Ono","sequence":"additional","affiliation":[{"name":"National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, Rockville, MD 20852"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gail","family":"Mandel","sequence":"additional","affiliation":[{"name":"Vollum Institute and"},{"name":"Howard Hughes Medical Institute, Oregon Health and Science University, Portland, OR 97239; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Brehm","sequence":"additional","affiliation":[{"name":"Vollum Institute and"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[2012,10,8]]},"reference":[{"key":"e_1_3_3_1_2","doi-asserted-by":"publisher","DOI":"10.1016\/0014-5793(87)80518-5"},{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.18-22-09227.1998"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1085\/jgp.201110649"},{"key":"e_1_3_3_4_2","first-page":"1217","article-title":"A leucine to phenylalanine substitution in the acetylcholine receptor ion channel in a family with the slow-channel syndrome","volume":"5","author":"Gomez CM","year":"1995","unstructured":"CM Gomez, JT Gammack, A leucine to phenylalanine substitution in the acetylcholine receptor ion channel in a family with the slow-channel syndrome. 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Soc Neurosci Abstr 27, 918.1 (2001).","journal-title":"Soc Neurosci Abstr"},{"key":"e_1_3_3_23_2","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.22-15-06491.2002"},{"key":"e_1_3_3_24_2","doi-asserted-by":"publisher","DOI":"10.1086\/339465"}],"container-title":["Proceedings of the National Academy of Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/pnas.org\/doi\/pdf\/10.1073\/pnas.1215858109","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,12]],"date-time":"2022-04-12T21:57:44Z","timestamp":1649800664000},"score":1,"resource":{"primary":{"URL":"https:\/\/pnas.org\/doi\/full\/10.1073\/pnas.1215858109"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,10,8]]},"references-count":24,"journal-issue":{"issue":"43","published-print":{"date-parts":[[2012,10,23]]}},"alternative-id":["10.1073\/pnas.1215858109"],"URL":"https:\/\/doi.org\/10.1073\/pnas.1215858109","relation":{},"ISSN":["0027-8424","1091-6490"],"issn-type":[{"value":"0027-8424","type":"print"},{"value":"1091-6490","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,10,8]]},"assertion":[{"value":"2012-10-08","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}