{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T16:01:02Z","timestamp":1791907262897,"version":"4.3.4"},"reference-count":41,"publisher":"The Company of Biologists","issue":"9","license":[{"start":{"date-parts":[[2023,9,5]],"date-time":"2023-09-05T00:00:00Z","timestamp":1693872000000},"content-version":"vor","delay-in-days":4,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"crossref","award":["R56AR077017"],"award-info":[{"award-number":["R56AR077017"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]},{"name":"A Foundation Building Strength"},{"name":"Uplifting Athletes"},{"name":"TANGO2 Research Foundation"},{"DOI":"10.13039\/100005292","name":"Brigham and Women's Hospital","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100005292","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,9,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Rhabdomyolysis is a clinical emergency characterized by severe muscle damage, resulting in the release of intracellular muscle components, which leads to myoglobinuria and, in severe cases, acute kidney failure. Rhabdomyolysis is caused by genetic factors linked to increased disease susceptibility in response to extrinsic triggers. Recessive mutations in TANGO2 result in episodic rhabdomyolysis, metabolic crises, encephalopathy and cardiac arrhythmia. The underlying mechanism contributing to disease onset in response to specific triggers remains unclear. To address these challenges, we created a zebrafish model of Tango2 deficiency. Here, we demonstrate that the loss of Tango2 in zebrafish results in growth defects, early lethality and increased susceptibility of skeletal muscle defects in response to extrinsic triggers, similar to TANGO2-deficient patients. Using lipidomics, we identified alterations in the glycerolipid pathway in tango2 mutants, which is critical for membrane stability and energy balance. Therefore, these studies provide insight into key disease processes in Tango2 deficiency and have increased our understanding of the impacts of specific defects on predisposition to environmental triggers in TANGO2-related disorders.<\/jats:p>","DOI":"10.1242\/dmm.050092","type":"journal-article","created":{"date-parts":[[2023,8,14]],"date-time":"2023-08-14T05:43:35Z","timestamp":1691991815000},"source":"Crossref","is-referenced-by-count":22,"title":["Intrinsic and extrinsic regulation of rhabdomyolysis susceptibility by Tango2"],"prefix":"10.1242","volume":"16","author":[{"given":"Euri S.","family":"Kim","sequence":"first","affiliation":[{"name":"Brigham and Women's Hospital Harvard Medical School 1 Division of Genetics, Department of Medicine , , Boston, MA 02115, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer G.","family":"Casey","sequence":"additional","affiliation":[{"name":"Brigham and Women's Hospital Harvard Medical School 1 Division of Genetics, Department of Medicine , , Boston, MA 02115, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian S.","family":"Tao","sequence":"additional","affiliation":[{"name":"Brigham and Women's Hospital Harvard Medical School 1 Division of Genetics, Department of Medicine , , Boston, MA 02115, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arian","family":"Mansur","sequence":"additional","affiliation":[{"name":"Brigham and Women's Hospital Harvard Medical School 1 Division of Genetics, Department of Medicine , , Boston, MA 02115, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nishanthi","family":"Mathiyalagan","sequence":"additional","affiliation":[{"name":"Brigham and Women's Hospital Harvard Medical School 1 Division of Genetics, Department of Medicine , , Boston, MA 02115, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E. Diane","family":"Wallace","sequence":"additional","affiliation":[{"name":"University of North Carolina at Chapel Hill 2 Department of Chemistry , , Chapel Hill, NC 27599, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brandie M.","family":"Ehrmann","sequence":"additional","affiliation":[{"name":"University of North Carolina at Chapel Hill 2 Department of Chemistry , , Chapel Hill, NC 27599, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4057-8451","authenticated-orcid":false,"given":"Vandana A.","family":"Gupta","sequence":"additional","affiliation":[{"name":"Brigham and Women's Hospital Harvard Medical School 1 Division of Genetics, Department of Medicine , , Boston, MA 02115, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"237","published-online":{"date-parts":[[2023,9,5]]},"reference":[{"key":"2023090507451521800_DMM050092C1","doi-asserted-by":"publisher","first-page":"573","DOI":"10.1039\/D0MO00087F","article-title":"Guide for protein fold change and p-value calculation for non-experts in proteomics","volume":"16","author":"Aguilan","year":"2020","journal-title":"Mol. 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