{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T19:50:18Z","timestamp":1792785018947,"version":"4.5.0"},"reference-count":56,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,7,2]],"date-time":"2025-07-02T00:00:00Z","timestamp":1751414400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2025,7,2]],"date-time":"2025-07-02T00:00:00Z","timestamp":1751414400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"funder":[{"name":"VeloSano"},{"name":"NIH","award":["R01-DK132812"],"award-info":[{"award-number":["R01-DK132812"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Sci Rep"],"DOI":"10.1038\/s41598-025-07843-4","type":"journal-article","created":{"date-parts":[[2025,7,2]],"date-time":"2025-07-02T16:49:04Z","timestamp":1751474944000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Tafazzin-deficient zebrafish display mitochondrial dysfunction, neutropenia, and metabolic defects without myopathy"],"prefix":"10.1038","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4082-7945","authenticated-orcid":false,"given":"Usua","family":"Oyarbide","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca A.","family":"Anderson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Igor","family":"Radzikh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jillian V.","family":"Kodger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akshay S.","family":"Patil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Morgan","family":"Staton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anny","family":"Mulya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Genevieve M.","family":"Crane","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvio","family":"Litovsky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yana","family":"Sandlers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seth J.","family":"Corey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,7,2]]},"reference":[{"key":"7843_CR1","doi-asserted-by":"publisher","first-page":"327","DOI":"10.1016\/0022-510x(83)90209-5","volume":"62","author":"PG Barth","year":"1983","unstructured":"Barth, P. G. et al. An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes. J. Neurol. Sci. 62, 327\u2013355. https:\/\/doi.org\/10.1016\/0022-510x(83)90209-5 (1983).","journal-title":"J. Neurol. Sci."},{"key":"7843_CR2","doi-asserted-by":"publisher","first-page":"e337","DOI":"10.1542\/peds.2005-2667","volume":"118","author":"CT Spencer","year":"2006","unstructured":"Spencer, C. T. et al. Cardiac and clinical phenotype in Barth syndrome. Pediatrics 118, e337-346. https:\/\/doi.org\/10.1542\/peds.2005-2667 (2006).","journal-title":"Pediatrics"},{"key":"7843_CR3","doi-asserted-by":"publisher","DOI":"10.3390\/jdb8020010","author":"MT Chin","year":"2020","unstructured":"Chin, M. T. & Conway, S. J. Role of tafazzin in mitochondrial function development and disease. J. dev. boil. https:\/\/doi.org\/10.3390\/jdb8020010 (2020).","journal-title":"J. dev. boil."},{"key":"7843_CR4","doi-asserted-by":"publisher","DOI":"10.3390\/cells9102333","author":"PX Petit","year":"2020","unstructured":"Petit, P. X., Ardilla-Osorio, H., Penalvia, L. & Rainey, N. E. Tafazzin mutation affecting cardiolipin leads to increased mitochondrial superoxide anions and mitophagy inhibition in barth syndrome. Cell https:\/\/doi.org\/10.3390\/cells9102333 (2020).","journal-title":"Cell"},{"key":"7843_CR5","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1002\/jimd.12422","volume":"45","author":"C Taylor","year":"2022","unstructured":"Taylor, C. et al. Clinical presentation and natural history of Barth Syndrome: An overview. J. Inherit. Metab. Dis. 45, 7\u201316. https:\/\/doi.org\/10.1002\/jimd.12422 (2022).","journal-title":"J. Inherit. Metab. Dis."},{"key":"7843_CR6","doi-asserted-by":"publisher","first-page":"58","DOI":"10.29245\/2572-9411\/2017\/2.1087","volume":"2","author":"V Raja","year":"2017","unstructured":"Raja, V., Reynolds, C. A. & Greenberg, M. L. Barth syndrome: A life-threatening disorder caused by abnormal cardiolipin remodeling. J. Rare Dis. Res. Treat. 2, 58\u201362. https:\/\/doi.org\/10.29245\/2572-9411\/2017\/2.1087 (2017).","journal-title":"J. Rare Dis. Res. Treat."},{"key":"7843_CR7","doi-asserted-by":"publisher","first-page":"139","DOI":"10.1016\/j.jpeds.2019.09.074","volume":"217","author":"PC Miller","year":"2020","unstructured":"Miller, P. C., Ren, M., Schlame, M., Toth, M. J. & Phoon, C. K. L. A bayesian analysis to determine the prevalence of barth syndrome in the pediatric population. J. Pediatr. 217, 139\u2013144. https:\/\/doi.org\/10.1016\/j.jpeds.2019.09.074 (2020).","journal-title":"J. Pediatr."},{"key":"7843_CR8","doi-asserted-by":"publisher","first-page":"3579","DOI":"10.1182\/blood-2019-123680","volume":"134","author":"J Sohn","year":"2019","unstructured":"Sohn, J., Brouse, T., Aziz, N. & Sykes, D. B. What links neutropenia to immature cardiolipin in patients with Barth syndrome (tafazzin-deficiency)?. Blood 134, 3579\u20133579. https:\/\/doi.org\/10.1182\/blood-2019-123680 (2019).","journal-title":"Blood"},{"key":"7843_CR9","doi-asserted-by":"publisher","first-page":"697","DOI":"10.1002\/ehf2.12588","volume":"7","author":"A Seitz","year":"2020","unstructured":"Seitz, A., Hinck, A., Bekeredjian, R. & Sechtem, U. Late diagnosis of Barth syndrome in a 39-year-old patient with non-compaction cardiomyopathy and neutropenia. ESC Heart Fail 7, 697\u2013701. https:\/\/doi.org\/10.1002\/ehf2.12588 (2020).","journal-title":"ESC Heart Fail"},{"key":"7843_CR10","doi-asserted-by":"publisher","DOI":"10.1093\/ehjcr\/ytab195","author":"S Rao","year":"2021","unstructured":"Rao, S., Kanwal, A. & Padmanabhan, S. Case report of Barth syndrome: A forgotten cause of cardiomyopathy. Eur. Heart J. Case Rep. https:\/\/doi.org\/10.1093\/ehjcr\/ytab195 (2021).","journal-title":"Eur. Heart J. Case Rep."},{"key":"7843_CR11","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1186\/1750-1172-8-23","volume":"8","author":"SL Clarke","year":"2013","unstructured":"Clarke, S. L. et al. Barth syndrome. Orphanet J. Rare Dis. 8, 23. https:\/\/doi.org\/10.1186\/1750-1172-8-23 (2013).","journal-title":"Orphanet J. Rare Dis."},{"key":"7843_CR12","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1038\/labinvest.3700480","volume":"87","author":"D Acehan","year":"2007","unstructured":"Acehan, D., Xu, Y., Stokes, D. L. & Schlame, M. Comparison of lymphoblast mitochondria from normal subjects and patients with Barth syndrome using electron microscopic tomography. Lab Invest 87, 40\u201348. https:\/\/doi.org\/10.1038\/labinvest.3700480 (2007).","journal-title":"Lab Invest"},{"key":"7843_CR13","doi-asserted-by":"publisher","first-page":"2017","DOI":"10.1016\/j.bbamem.2017.03.013","volume":"1156\u20131163","author":"N Ikon","year":"1859","unstructured":"Ikon, N. & Ryan, R. O. Cardiolipin and mitochondrial cristae organization. Biochim. Biophys. Acta 1156\u20131163, 2017. https:\/\/doi.org\/10.1016\/j.bbamem.2017.03.013 (1859).","journal-title":"Biochim. Biophys. Acta"},{"key":"7843_CR14","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2020.165803","volume":"1866","author":"E Bertero","year":"2020","unstructured":"Bertero, E., Kutschka, I., Maack, C. & Dudek, J. Cardiolipin remodeling in Barth syndrome and other hereditary cardiomyopathies. Biochim. Biophys. Acta Mol. Basis Dis. 1866, 165803. https:\/\/doi.org\/10.1016\/j.bbadis.2020.165803 (2020).","journal-title":"Biochim. Biophys. Acta Mol. Basis Dis."},{"key":"7843_CR15","doi-asserted-by":"publisher","first-page":"30360","DOI":"10.1074\/jbc.M109.048322","volume":"284","author":"WA Taylor","year":"2009","unstructured":"Taylor, W. A. & Hatch, G. M. Identification of the human mitochondrial linoleoyl-coenzyme a monolysocardiolipin acyltransferase (MLCL AT-1). J. Biol. Chem. 284, 30360\u201330371. https:\/\/doi.org\/10.1074\/jbc.M109.048322 (2009).","journal-title":"J. Biol. Chem."},{"key":"7843_CR16","doi-asserted-by":"publisher","first-page":"1765","DOI":"10.1042\/BST20220603","volume":"51","author":"K Zhang","year":"2023","unstructured":"Zhang, K., Chan, V., Botelho, R. J. & Antonescu, C. N. A tail of their own: Regulation of cardiolipin and phosphatidylinositol fatty acyl profile by the acyltransferase LCLAT1. Biochem. Soc. Trans. 51, 1765\u20131776. https:\/\/doi.org\/10.1042\/BST20220603 (2023).","journal-title":"Biochem. Soc. Trans."},{"key":"7843_CR17","doi-asserted-by":"publisher","first-page":"1024","DOI":"10.1161\/CIRCRESAHA.119.315956","volume":"126","author":"S Wang","year":"2020","unstructured":"Wang, S. et al. AAV gene therapy prevents and reverses heart failure in a murine knockout model of Barth syndrome. Circ. Res. 126, 1024\u20131039. https:\/\/doi.org\/10.1161\/CIRCRESAHA.119.315956 (2020).","journal-title":"Circ. Res."},{"key":"7843_CR18","doi-asserted-by":"publisher","first-page":"2055","DOI":"10.1093\/hmg\/ddad041","volume":"32","author":"S Wang","year":"2023","unstructured":"Wang, S. et al. Genetic modifiers modulate phenotypic expression of tafazzin deficiency in a mouse model of Barth syndrome. Hum. Mol. Genet. 32, 2055\u20132067. https:\/\/doi.org\/10.1093\/hmg\/ddad041 (2023).","journal-title":"Hum. Mol. Genet."},{"key":"7843_CR19","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCHEARTFAILURE.121.008289","volume":"14","author":"S Zhu","year":"2021","unstructured":"Zhu, S. et al. Cardiolipin remodeling defects impair mitochondrial architecture and function in a murine model of barth syndrome cardiomyopathy. Circ. Heart Fail 14, e008289. https:\/\/doi.org\/10.1161\/CIRCHEARTFAILURE.121.008289 (2021).","journal-title":"Circ. Heart Fail"},{"key":"7843_CR20","doi-asserted-by":"publisher","DOI":"10.3390\/jcdd3020013","author":"DR Brown","year":"2016","unstructured":"Brown, D. R., Samsa, L. A., Qian, L. & Liu, J. Advances in the Study of Heart Development and Disease Using Zebrafish. J Cardiovasc Dev Dis https:\/\/doi.org\/10.3390\/jcdd3020013 (2016).","journal-title":"J Cardiovasc Dev Dis"},{"key":"7843_CR21","doi-asserted-by":"publisher","first-page":"15","DOI":"10.3390\/biomedicines7010015","volume":"7","author":"P Giardoglou","year":"2019","unstructured":"Giardoglou, P. & Beis, D. On zebrafish disease models and matters of the heart. Biomedicines 7, 15. https:\/\/doi.org\/10.3390\/biomedicines7010015 (2019).","journal-title":"Biomedicines"},{"key":"7843_CR22","doi-asserted-by":"publisher","DOI":"10.3390\/ijms24098314","author":"C Tesoriero","year":"2023","unstructured":"Tesoriero, C. et al. Modeling human muscular dystrophies in zebrafish: Mutant lines, transgenic fluorescent biosensors, and phenotyping assays. Int J Mol Sci https:\/\/doi.org\/10.3390\/ijms24098314 (2023).","journal-title":"Int J Mol Sci"},{"key":"7843_CR23","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1016\/j.bbadis.2006.07.003","volume":"1772","author":"JR Guyon","year":"2007","unstructured":"Guyon, J. R. et al. Modeling human muscle disease in zebrafish. Biochim. Biophys. Acta. 1772, 205\u2013215. https:\/\/doi.org\/10.1016\/j.bbadis.2006.07.003 (2007).","journal-title":"Biochim. Biophys. Acta."},{"key":"7843_CR24","doi-asserted-by":"publisher","DOI":"10.1002\/wdev.312","volume":"7","author":"AV Gore","year":"2018","unstructured":"Gore, A. V., Pillay, L. M., Venero Galanternik, M. & Weinstein, B. M. The zebrafish: A fintastic model for hematopoietic development and disease. Wiley Interdiscip. Rev. Dev. Biol. 7, e312. https:\/\/doi.org\/10.1002\/wdev.312 (2018).","journal-title":"Wiley Interdiscip. Rev. Dev. Biol."},{"key":"7843_CR25","doi-asserted-by":"publisher","first-page":"287","DOI":"10.1089\/hum.2016.024","volume":"27","author":"S Avagyan","year":"2016","unstructured":"Avagyan, S. & Zon, L. I. Fish to Learn: Insights into blood development and blood disorders from zebrafish hematopoiesis. Hum. Gene. Ther. 27, 287\u2013294. https:\/\/doi.org\/10.1089\/hum.2016.024 (2016).","journal-title":"Hum. Gene. Ther."},{"key":"7843_CR26","volume-title":"The Zebrafish Book: A Guide for the Laboratory Use of Zebrafish (Danio Rerio)","author":"M Westerfield","year":"2000","unstructured":"Westerfield, M. The Zebrafish Book: A Guide for the Laboratory Use of Zebrafish (Danio Rerio) (University of Oregon, 2000)."},{"key":"7843_CR27","doi-asserted-by":"publisher","first-page":"W77","DOI":"10.1093\/nar\/gkt439","volume":"41","author":"J Wang","year":"2013","unstructured":"Wang, J., Duncan, D., Shi, Z. & Zhang, B. WEB-based GEne SeT anaLysis Toolkit (WebGestalt): Update 2013. Nucl. Acid. Res. 41, W77-83. https:\/\/doi.org\/10.1093\/nar\/gkt439 (2013).","journal-title":"Nucl. Acid. Res."},{"key":"7843_CR28","doi-asserted-by":"publisher","first-page":"W147","DOI":"10.1093\/nar\/gkw419","volume":"44","author":"S Babicki","year":"2016","unstructured":"Babicki, S. et al. Heatmapper: Web-enabled heat mapping for all. Nucl. Acid. Res. 44, W147-153. https:\/\/doi.org\/10.1093\/nar\/gkw419 (2016).","journal-title":"Nucl. Acid. Res."},{"key":"7843_CR29","doi-asserted-by":"publisher","first-page":"1662","DOI":"10.1002\/jat.3311","volume":"36","author":"J Shim","year":"2016","unstructured":"Shim, J. et al. Triclosan is a mitochondrial uncoupler in live zebrafish. J. Appl. Toxicol. 36, 1662\u20131667. https:\/\/doi.org\/10.1002\/jat.3311 (2016).","journal-title":"J. Appl. Toxicol."},{"key":"7843_CR30","doi-asserted-by":"publisher","first-page":"393","DOI":"10.1007\/978-1-4939-7883-0_21","volume":"1797","author":"ST Bond","year":"2018","unstructured":"Bond, S. T., McEwen, K. A., Yoganantharajah, P. & Gibert, Y. Live metabolic profile analysis of zebrafish embryos using a seahorse XF 24 extracellular flux analyzer. Method. Mol. Biol. 1797, 393\u2013401. https:\/\/doi.org\/10.1007\/978-1-4939-7883-0_21 (2018).","journal-title":"Method. Mol. Biol."},{"key":"7843_CR31","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1186\/1477-7827-3-63","volume":"3","author":"J von Hofsten","year":"2005","unstructured":"von Hofsten, J. & Olsson, P. E. Zebrafish sex determination and differentiation: Involvement of FTZ-F1 genes. Reprod. Biol. Endocrinol. 3, 63. https:\/\/doi.org\/10.1186\/1477-7827-3-63 (2005).","journal-title":"Reprod. Biol. Endocrinol."},{"key":"7843_CR32","doi-asserted-by":"publisher","first-page":"128","DOI":"10.1016\/j.reprotox.2011.06.121","volume":"33","author":"U Strahle","year":"2012","unstructured":"Strahle, U. et al. Zebrafish embryos as an alternative to animal experiments\u2013a commentary on the definition of the onset of protected life stages in animal welfare regulations. Reprod. Toxicol. 33, 128\u2013132. https:\/\/doi.org\/10.1016\/j.reprotox.2011.06.121 (2012).","journal-title":"Reprod. Toxicol."},{"key":"7843_CR33","doi-asserted-by":"publisher","DOI":"10.3390\/metabo9120306","author":"EM Fatica","year":"2019","unstructured":"Fatica, E. M. et al. Barth syndrome: Exploring cardiac metabolism with induced pluripotent stem cell-derived cardiomyocytes. Metabolites https:\/\/doi.org\/10.3390\/metabo9120306 (2019).","journal-title":"Metabolites"},{"key":"7843_CR34","doi-asserted-by":"publisher","first-page":"11568","DOI":"10.1074\/jbc.RA119.009037","volume":"294","author":"Y Li","year":"2019","unstructured":"Li, Y. et al. Cardiolipin-induced activation of pyruvate dehydrogenase links mitochondrial lipid biosynthesis to TCA cycle function. J. Biol. Chem. 294, 11568\u201311578. https:\/\/doi.org\/10.1074\/jbc.RA119.009037 (2019).","journal-title":"J. Biol. Chem."},{"key":"7843_CR35","doi-asserted-by":"publisher","first-page":"12485","DOI":"10.1074\/jbc.RA119.011229","volume":"295","author":"CH Le","year":"2020","unstructured":"Le, C. H. et al. Tafazzin deficiency impairs CoA-dependent oxidative metabolism in cardiac mitochondria. J. Biol. Chem. 295, 12485\u201312497. https:\/\/doi.org\/10.1074\/jbc.RA119.011229 (2020).","journal-title":"J. Biol. Chem."},{"key":"7843_CR36","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1007\/s10545-012-9486-x","volume":"36","author":"WT Cade","year":"2013","unstructured":"Cade, W. T. et al. Substrate metabolism during basal and hyperinsulinemic conditions in adolescents and young-adults with Barth syndrome. J. Inherit. Metab. Dis. 36, 91\u2013101. https:\/\/doi.org\/10.1007\/s10545-012-9486-x (2013).","journal-title":"J. Inherit. Metab. Dis."},{"key":"7843_CR37","doi-asserted-by":"publisher","first-page":"65","DOI":"10.4137\/LPI.S31746","volume":"8","author":"TA Lagace","year":"2015","unstructured":"Lagace, T. A. Phosphatidylcholine: Greasing the cholesterol transport machinery. Lipid. Insight. 8, 65\u201373. https:\/\/doi.org\/10.4137\/LPI.S31746 (2015).","journal-title":"Lipid. Insight."},{"key":"7843_CR38","doi-asserted-by":"publisher","DOI":"10.3390\/ijms20051149","author":"SH Law","year":"2019","unstructured":"Law, S. H. et al. An updated review of lysophosphatidylcholine metabolism in human diseases. Int. J. Mol. Sci. https:\/\/doi.org\/10.3390\/ijms20051149 (2019).","journal-title":"Int. J. Mol. Sci."},{"key":"7843_CR39","doi-asserted-by":"publisher","DOI":"10.3390\/ijms22168468","author":"DD Park","year":"2021","unstructured":"Park, D. D. et al. Long-chain acyl-carnitines interfere with mitochondrial atp production leading to cardiac dysfunction in zebrafish. Int. J. Mol. Sci. https:\/\/doi.org\/10.3390\/ijms22168468 (2021).","journal-title":"Int. J. Mol. Sci."},{"key":"7843_CR40","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0151802","volume":"11","author":"Y Sandlers","year":"2016","unstructured":"Sandlers, Y. et al. Metabolomics reveals new mechanisms for pathogenesis in Barth syndrome and introduces novel roles for cardiolipin in cellular function. PLoS ONE 11, e0151802. https:\/\/doi.org\/10.1371\/journal.pone.0151802 (2016).","journal-title":"PLoS ONE"},{"key":"7843_CR41","doi-asserted-by":"publisher","first-page":"791","DOI":"10.1002\/iub.2018","volume":"71","author":"S Ghosh","year":"2019","unstructured":"Ghosh, S., Iadarola, D. M., Ball, W. B. & Gohil, V. M. Mitochondrial dysfunctions in barth syndrome. IUBMB Life 71, 791\u2013801. https:\/\/doi.org\/10.1002\/iub.2018 (2019).","journal-title":"IUBMB Life"},{"key":"7843_CR42","doi-asserted-by":"publisher","first-page":"643","DOI":"10.1080\/15548627.2015.1023984","volume":"11","author":"P Hsu","year":"2015","unstructured":"Hsu, P. et al. Cardiolipin remodeling by TAZ\/tafazzin is selectively required for the initiation of mitophagy. Autophagy 11, 643\u2013652. https:\/\/doi.org\/10.1080\/15548627.2015.1023984 (2015).","journal-title":"Autophagy"},{"key":"7843_CR43","doi-asserted-by":"publisher","first-page":"140","DOI":"10.1093\/molbev\/mss212","volume":"30","author":"JC Opazo","year":"2013","unstructured":"Opazo, J. C., Butts, G. T., Nery, M. F., Storz, J. F. & Hoffmann, F. G. Whole-genome duplication and the functional diversification of teleost fish hemoglobins. Mol. Biol. Evol. 30, 140\u2013153. https:\/\/doi.org\/10.1093\/molbev\/mss212 (2013).","journal-title":"Mol. Biol. Evol."},{"key":"7843_CR44","doi-asserted-by":"publisher","first-page":"72","DOI":"10.1002\/jimd.12423","volume":"45","author":"WT Pu","year":"2022","unstructured":"Pu, W. T. Experimental models of Barth syndrome. J. Inherit. Metab. Dis. 45, 72\u201381. https:\/\/doi.org\/10.1002\/jimd.12423 (2022).","journal-title":"J. Inherit. Metab. Dis."},{"key":"7843_CR45","doi-asserted-by":"publisher","first-page":"201","DOI":"10.1161\/01.RES.0000233378.95325.ce","volume":"99","author":"Z Khuchua","year":"2006","unstructured":"Khuchua, Z., Yue, Z., Batts, L. & Strauss, A. W. A zebrafish model of human Barth syndrome reveals the essential role of tafazzin in cardiac development and function. Circ. Res. 99, 201\u2013208. https:\/\/doi.org\/10.1161\/01.RES.0000233378.95325.ce (2006).","journal-title":"Circ. Res."},{"key":"7843_CR46","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1016\/j.devcel.2014.11.018","volume":"32","author":"FO Kok","year":"2015","unstructured":"Kok, F. O. et al. Reverse genetic screening reveals poor correlation between morpholino-induced and mutant phenotypes in zebrafish. Dev. Cell. 32, 97\u2013108. https:\/\/doi.org\/10.1016\/j.devcel.2014.11.018 (2015).","journal-title":"Dev. Cell."},{"key":"7843_CR47","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1006780","volume":"13","author":"MA El-Brolosy","year":"2017","unstructured":"El-Brolosy, M. A. & Stainier, D. Y. R. Genetic compensation: A phenomenon in search of mechanisms. PLoS Genet 13, e1006780. https:\/\/doi.org\/10.1371\/journal.pgen.1006780 (2017).","journal-title":"PLoS Genet"},{"key":"7843_CR48","doi-asserted-by":"publisher","DOI":"10.3390\/ijms22073472","author":"CM Salanga","year":"2021","unstructured":"Salanga, C. M. & Salanga, M. C. Genotype to phenotype: CRISPR gene editing reveals genetic compensation as a mechanism for phenotypic disjunction of morphants and mutants. Int. J. Mol. Sci. https:\/\/doi.org\/10.3390\/ijms22073472 (2021).","journal-title":"Int. J. Mol. Sci."},{"key":"7843_CR49","doi-asserted-by":"publisher","first-page":"230","DOI":"10.1038\/nature14580","volume":"524","author":"A Rossi","year":"2015","unstructured":"Rossi, A. et al. Genetic compensation induced by deleterious mutations but not gene knockdowns. Nature 524, 230\u2013233. https:\/\/doi.org\/10.1038\/nature14580 (2015).","journal-title":"Nature"},{"key":"7843_CR50","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1009088","volume":"16","author":"F Diofano","year":"2020","unstructured":"Diofano, F. et al. Genetic compensation prevents myopathy and heart failure in an in vivo model of Bag3 deficiency. PLoS Genet 16, e1009088. https:\/\/doi.org\/10.1371\/journal.pgen.1009088 (2020).","journal-title":"PLoS Genet"},{"key":"7843_CR51","doi-asserted-by":"publisher","first-page":"193","DOI":"10.1038\/s41586-019-1064-z","volume":"568","author":"MA El-Brolosy","year":"2019","unstructured":"El-Brolosy, M. A. et al. Genetic compensation triggered by mutant mRNA degradation. Nature 568, 193\u2013197. https:\/\/doi.org\/10.1038\/s41586-019-1064-z (2019).","journal-title":"Nature"},{"key":"7843_CR52","doi-asserted-by":"publisher","first-page":"1250772","DOI":"10.3389\/fped.2023.1250772","volume":"11","author":"N Tovaglieri","year":"2023","unstructured":"Tovaglieri, N., Russo, S., Micaglio, E., Corcelli, A. & Lobasso, S. Case report: Variability in clinical features as a potential pitfall for the diagnosis of Barth syndrome. Front. Pediatr. 11, 1250772. https:\/\/doi.org\/10.3389\/fped.2023.1250772 (2023).","journal-title":"Front. Pediatr."},{"key":"7843_CR53","doi-asserted-by":"publisher","first-page":"428","DOI":"10.1016\/j.ymgme.2012.09.013","volume":"107","author":"D Ronvelia","year":"2012","unstructured":"Ronvelia, D., Greenwood, J., Platt, J., Hakim, S. & Zaragoza, M. V. Intrafamilial variability for novel TAZ gene mutation: Barth syndrome with dilated cardiomyopathy and heart failure in an infant and left ventricular noncompaction in his great-uncle. Mol. Genet. Metab. 107, 428\u2013432. https:\/\/doi.org\/10.1016\/j.ymgme.2012.09.013 (2012).","journal-title":"Mol. Genet. Metab."},{"key":"7843_CR54","doi-asserted-by":"publisher","first-page":"256","DOI":"10.1016\/j.jpeds.2017.09.075","volume":"193","author":"A Imai-Okazaki","year":"2018","unstructured":"Imai-Okazaki, A. et al. Barth syndrome: Different approaches to diagnosis. J. Pediatr. 193, 256\u2013260. https:\/\/doi.org\/10.1016\/j.jpeds.2017.09.075 (2018).","journal-title":"J. Pediatr."},{"key":"7843_CR55","doi-asserted-by":"publisher","DOI":"10.1016\/j.immuni.2017.08.005","author":"T Riffelmacher","year":"2017","unstructured":"Riffelmacher, T. et al. Autophagy-dependent generation of free fatty acids is critical for normal neutrophil differentiation. Immunity https:\/\/doi.org\/10.1016\/j.immuni.2017.08.005 (2017).","journal-title":"Immunity"},{"key":"7843_CR56","doi-asserted-by":"publisher","first-page":"374","DOI":"10.1038\/s41423-020-00608-1","volume":"18","author":"J Florentin","year":"2021","unstructured":"Florentin, J. et al. Interleukin-6 mediates neutrophil mobilization from bone marrow in pulmonary hypertension. Cell. Mol. Immunol. 18, 374\u2013384. https:\/\/doi.org\/10.1038\/s41423-020-00608-1 (2021).","journal-title":"Cell. Mol. Immunol."}],"container-title":["Scientific Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41598-025-07843-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41598-025-07843-4","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41598-025-07843-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,7,2]],"date-time":"2025-07-02T16:49:05Z","timestamp":1751474945000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41598-025-07843-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7,2]]},"references-count":56,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["7843"],"URL":"https:\/\/doi.org\/10.1038\/s41598-025-07843-4","relation":{"has-preprint":[{"id-type":"doi","id":"10.21203\/rs.3.rs-5960642\/v1","asserted-by":"object"}]},"ISSN":["2045-2322"],"issn-type":[{"value":"2045-2322","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,7,2]]},"assertion":[{"value":"4 February 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 June 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 July 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}],"article-number":"23679"}}