{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T05:31:44Z","timestamp":1787117504694,"version":"build-2736575974"},"reference-count":31,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2022,12,15]],"date-time":"2022-12-15T00:00:00Z","timestamp":1671062400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000038","name":"Natural Sciences and Engineering Research Council of Canada","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000038","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2023,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations in the Transport and Golgi Organization 2 (<jats:italic>TANGO2<\/jats:italic>) gene are associated with intellectual deficit, neurodevelopmental delay and regression. Individuals can also present with an acute metabolic crisis that includes rhabdomyolysis, cardiomyopathy, and cardiac arrhythmias, the latter of which are potentially lethal. While preventing metabolic crises has the potential to reduce mortality, no treatments currently exist for this condition. The function of TANGO2 remains unknown but is suspected to be involved in some aspect of lipid metabolism. Here, we describe a model of <jats:italic>TANGO2<\/jats:italic>\u2010related disease in the fruit fly <jats:italic>Drosophila melanogaster<\/jats:italic> that recapitulates crucial disease traits. Pairing a new fly model with human cells, we examined the effects of vitamin B5, a coenzyme A (CoA) precursor, on alleviating the cellular and organismal defects associated with <jats:italic>TANGO2<\/jats:italic> deficiency. We demonstrate that vitamin B5 specifically improves multiple defects associated with TANGO2 loss\u2010of\u2010function in <jats:italic>Drosophila<\/jats:italic> and rescues membrane trafficking defects in human cells. We also observed a partial rescue of one of the fly defects by vitamin B3, though to a lesser extent than vitamin B5. Our data suggest that a B complex supplement containing vitamin B5\/pantothenate may have therapeutic benefits in individuals with TANGO2\u2010deficiency disease. Possible mechanisms for the rescue are discussed that may include restoration of lipid homeostasis.<\/jats:p>","DOI":"10.1002\/jimd.12579","type":"journal-article","created":{"date-parts":[[2022,12,11]],"date-time":"2022-12-11T15:24:13Z","timestamp":1670772253000},"page":"358-368","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":41,"title":["Vitamin B5, a coenzyme A precursor, rescues TANGO2 deficiency disease\u2010associated defects in <i>Drosophila<\/i> and human cells"],"prefix":"10.1002","volume":"46","author":[{"given":"Paria","family":"Asadi","sequence":"first","affiliation":[{"name":"Department of Biology Concordia University  Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miroslav P.","family":"Milev","sequence":"additional","affiliation":[{"name":"Department of Biology Concordia University  Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Djenann","family":"Saint\u2010Dic","sequence":"additional","affiliation":[{"name":"Department of Biology Concordia University  Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Gamberi","sequence":"additional","affiliation":[{"name":"Department of Biology Coastal Carolina University  Conway South Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2926-5064","authenticated-orcid":false,"given":"Michael","family":"Sacher","sequence":"additional","affiliation":[{"name":"Department of Biology Concordia University  Montreal Quebec Canada"},{"name":"Department of Anatomyand Cell Biology McGill University  Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,12,15]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature04377"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.12.009"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.12.008"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62543"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.hrthm.2022.05.009"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12149"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12312"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12156"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-022-07076-9"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1128\/ecosalplus.3.6.3.4"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0912105107"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1039\/C3NP70054B"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/jnr.21650"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.4161\/fly.4.4.13258"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/gerona\/63.1.35"},{"key":"e_1_2_11_17_1","first-page":"1261","article-title":"Galindo MI. Generation and characterization of the Drosophila melanogaster paralytic Gene Knock\u2010out as a model for Dravet syndrome","volume":"11","author":"Tapia A","year":"2021","journal-title":"Life (Basel)"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-021-03819-2"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12314"},{"key":"e_1_2_11_20_1","first-page":"2504","article-title":"Assaying locomotor, learning, and memory deficits in drosophila models of neurodegeneration","volume":"49","author":"Ali YO","year":"2011","journal-title":"J Vis Exp"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-017-12889-0"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1177\/1178646918776658"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.21203\/rs.3.rs\u20101778084\/v1"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2022.11.020"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2019.00109"},{"key":"e_1_2_11_26_1","article-title":"Transport and Golgi organization 2 deficiency with a prominent elevation of C14:1 during a metabolic crisis: a case report","author":"Yokoi K","year":"2022","journal-title":"J Inherit Metab Dis Rep"},{"key":"e_1_2_11_27_1","doi-asserted-by":"publisher","DOI":"10.1101\/2022.11.05.515282"},{"key":"e_1_2_11_28_1","doi-asserted-by":"publisher","DOI":"10.1101\/2022.11.12.516274"},{"key":"e_1_2_11_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cbpa.2017.11.003"},{"key":"e_1_2_11_30_1","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.17828"},{"key":"e_1_2_11_31_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-022-05347-z"},{"key":"e_1_2_11_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mcn.2008.07.027"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jimd.12579","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jimd.12579","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jimd.12579","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,19]],"date-time":"2023-08-19T13:02:29Z","timestamp":1692450149000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jimd.12579"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12,15]]},"references-count":31,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2023,3]]}},"alternative-id":["10.1002\/jimd.12579"],"URL":"https:\/\/doi.org\/10.1002\/jimd.12579","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,12,15]]},"assertion":[{"value":"2022-09-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-12-07","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-12-15","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}