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Currently, no cure or disease modifying therapy has been successfully developed for MDC1A. Examination of patient muscle biopsies revealed altered distribution of lysosomes. We hypothesized that this redistribution was a novel and potentially druggable aspect of disease pathogenesis. We explored this hypothesis using candyfloss (caf), a zebrafish model of MDC1A. We found that lysosome distribution in caf zebrafish was also abnormal. This altered localization was significantly associated with fiber detachment and could be prevented by blocking myofiber detachment. Overexpression of transcription factor EB, a transcription factor that promotes lysosomal biogenesis, led to increased lysosome content and decreased fiber detachment. We conclude that genetic manipulation of the lysosomal compartment is able to alter the caf zebrafish disease process, suggesting that lysosome function may be a target for disease modification.<\/jats:p>","DOI":"10.1093\/hmg\/ddab278","type":"journal-article","created":{"date-parts":[[2021,9,20]],"date-time":"2021-09-20T19:11:45Z","timestamp":1632165105000},"page":"733-747","source":"Crossref","is-referenced-by-count":5,"title":["Lysosomes and the pathogenesis of merosin-deficient congenital muscular dystrophy"],"prefix":"10.1093","volume":"31","author":[{"given":"Sarah J","family":"Smith","sequence":"first","affiliation":[{"name":"Department of Molecular Genetics , , Toronto, ON M5S 1A8, Canada"},{"name":"University of Toronto , , Toronto, ON M5S 1A8, Canada"},{"name":"Program for Genetics & Genome Biology , , Toronto, ON M5G 0A4, Canada"},{"name":"Hospital for Sick Children , , Toronto, ON M5G 0A4, Canada"},{"name":"Department of Family Medicine , , Calgary T2R 0X7, Alberta"},{"name":"University of Calgary , , Calgary T2R 0X7, Alberta"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7124-5556","authenticated-orcid":false,"given":"Lacramioara","family":"Fabian","sequence":"additional","affiliation":[{"name":"Program for Genetics & Genome Biology , , Toronto, ON M5G 0A4, Canada"},{"name":"Hospital for Sick Children , , Toronto, ON M5G 0A4, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9682-2989","authenticated-orcid":false,"given":"Adeel","family":"Sheikh","sequence":"additional","affiliation":[{"name":"Program for Genetics & Genome Biology , , Toronto, ON M5G 0A4, Canada"},{"name":"Hospital for Sick Children , , Toronto, ON M5G 0A4, Canada"},{"name":"Schulich School of Medicine and Dentistry , , London, ON N6A 5C1, Canada"},{"name":"Western University , , London, ON N6A 5C1, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ramil","family":"Noche","sequence":"additional","affiliation":[{"name":"Program for Genetics & Genome Biology , , Toronto, ON M5G 0A4, Canada"},{"name":"Hospital for Sick Children , , Toronto, ON M5G 0A4, Canada"},{"name":"Zebrafish Genetics and Disease Models Core Facility , , Toronto, ON M5G 0A4, Canada"},{"name":"Hospital for Sick Children , , Toronto, ON M5G 0A4, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiucheng","family":"Cui","sequence":"additional","affiliation":[{"name":"Zebrafish Genetics and Disease Models Core Facility , , Toronto, ON M5G 0A4, Canada"},{"name":"Hospital for Sick Children , , Toronto, ON M5G 0A4, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steven A","family":"Moore","sequence":"additional","affiliation":[{"name":"Department of Pathology , , Iowa City, IA, USA"},{"name":"University of Iowa Medical Center , , Iowa City, IA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3984-4169","authenticated-orcid":false,"given":"James J","family":"Dowling","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics , , Toronto, ON M5S 1A8, Canada"},{"name":"University of Toronto , , Toronto, ON M5S 1A8, Canada"},{"name":"Program for Genetics & Genome Biology , , Toronto, ON M5G 0A4, Canada"},{"name":"Hospital for Sick Children , , Toronto, ON M5G 0A4, Canada"},{"name":"Division of Neurology , , Toronto, ON M5G 1X8, Canada"},{"name":"Hospital for Sick Children , , Toronto, ON M5G 1X8, Canada"},{"name":"Department of Paediatrics , , Toronto, ON M5G 1X8, Canada"},{"name":"University of Toronto , , Toronto, ON M5G 1X8, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2021,9,25]]},"reference":[{"key":"2023030707311264700_","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1177\/088307389501000219","article-title":"The childhood muscular dystrophies: diseases sharing a common pathogenesis of membrane instability","volume":"10","author":"Mendell","year":"1995","journal-title":"J. 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