{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T02:49:41Z","timestamp":1787021381009,"version":"build-2736575974"},"reference-count":70,"publisher":"The Company of Biologists","issue":"5","license":[{"start":{"date-parts":[[2022,5,9]],"date-time":"2022-05-09T00:00:00Z","timestamp":1652054400000},"content-version":"vor","delay-in-days":8,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"crossref","award":["153056"],"award-info":[{"award-number":["153056"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"crossref","award":["R01 AR078000"],"award-info":[{"award-number":["R01 AR078000"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100000038","name":"Natural Sciences and Engineering Research Council of Canada","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100000038","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,5,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Centronuclear myopathy (CNM) is a congenital neuromuscular disorder caused by pathogenic variation in genes associated with membrane trafficking and excitation\u2013contraction coupling (ECC). Bi-allelic autosomal-recessive mutations in striated muscle enriched protein kinase (SPEG) account for a subset of CNM patients. Previous research has been limited by the perinatal lethality of constitutive Speg knockout mice. Thus, the precise biological role of SPEG in developing skeletal muscle remains unknown. To address this issue, we generated zebrafish spega, spegb and spega;spegb (speg-DKO) mutant lines. We demonstrated that speg-DKO zebrafish faithfully recapitulate multiple phenotypes associated with CNM, including disruption of the ECC machinery, dysregulation of calcium homeostasis during ECC and impairment of muscle performance. Taking advantage of zebrafish models of multiple CNM genetic subtypes, we compared novel and known disease markers in speg-DKO with mtm1-KO and DNM2-S619L transgenic zebrafish. We observed Desmin accumulation common to all CNM subtypes, and Dnm2 upregulation in muscle of both speg-DKO and mtm1-KO zebrafish. In all, we establish a new model of SPEG-related CNM, and identify abnormalities in this model suitable for defining disease pathomechanisms and evaluating potential therapies.<\/jats:p>\n                  <jats:p>This article has an associated First Person interview with the joint first authors of the paper.<\/jats:p>","DOI":"10.1242\/dmm.049437","type":"journal-article","created":{"date-parts":[[2022,3,16]],"date-time":"2022-03-16T07:33:37Z","timestamp":1647416017000},"source":"Crossref","is-referenced-by-count":10,"title":["Characterization of a novel zebrafish model of\n                    <i>SPEG<\/i>\n                    -related centronuclear myopathy"],"prefix":"10.1242","volume":"15","author":[{"given":"Karla G.","family":"Espinosa","sequence":"first","affiliation":[{"name":"Program for Genetics and Genome Biology, Hospital for Sick Children, 686 Bay Street, Toronto, ON M5G 0A4, Canada"},{"name":"Department of Molecular Genetics, University of Toronto, Medical Science Building, Room 4386, 1 King's College Cir, Toronto, ON M5S 1A8, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salma","family":"Geissah","sequence":"additional","affiliation":[{"name":"Program for Genetics and Genome Biology, Hospital for Sick Children, 686 Bay Street, Toronto, ON M5G 0A4, Canada"},{"name":"Department of Molecular Genetics, University of Toronto, Medical Science Building, Room 4386, 1 King's College Cir, Toronto, ON M5S 1A8, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda","family":"Groom","sequence":"additional","affiliation":[{"name":"Department of Pharmacology and Physiology, University of Rochester Medical Centre, 601 Elmwood Avenue, Rochester, NY 14642, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan","family":"Volpatti","sequence":"additional","affiliation":[{"name":"Program for Genetics and Genome Biology, Hospital for Sick Children, 686 Bay Street, Toronto, ON M5G 0A4, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6665-1410","authenticated-orcid":false,"given":"Ian C.","family":"Scott","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics, University of Toronto, Medical Science Building, Room 4386, 1 King's College Cir, Toronto, ON M5S 1A8, Canada"},{"name":"Program for Development and Stem Cell Biology, Hospital for Sick Children, 686 Bay Street, Toronto, ON M5G 0A4, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert T.","family":"Dirksen","sequence":"additional","affiliation":[{"name":"Department of Pharmacology and Physiology, University of Rochester Medical Centre, 601 Elmwood Avenue, Rochester, NY 14642, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3665-3738","authenticated-orcid":false,"given":"Mo","family":"Zhao","sequence":"additional","affiliation":[{"name":"Program for Genetics and Genome Biology, Hospital for Sick Children, 686 Bay Street, Toronto, ON M5G 0A4, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3984-4169","authenticated-orcid":false,"given":"James J.","family":"Dowling","sequence":"additional","affiliation":[{"name":"Program for Genetics and Genome Biology, Hospital for Sick Children, 686 Bay Street, Toronto, ON M5G 0A4, Canada"},{"name":"Department of Molecular Genetics, University of Toronto, Medical Science Building, Room 4386, 1 King's College Cir, Toronto, ON M5S 1A8, Canada"},{"name":"Department of Pediatrics, University of Toronto, Room 1436D, 555 University Avenue, Toronto, ON M5G 1X8, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"237","published-online":{"date-parts":[[2022,5,9]]},"reference":[{"key":"2022050910485984800_DMM049437C1","doi-asserted-by":"publisher","first-page":"218","DOI":"10.1016\/j.ajhg.2014.07.004","article-title":"SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy","volume":"95","author":"Agrawal","year":"2014","journal-title":"Am. 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