{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T19:12:53Z","timestamp":1787166773031,"version":"build-2736575974"},"reference-count":94,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2023,11,6]],"date-time":"2023-11-06T00:00:00Z","timestamp":1699228800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2023,11,6]],"date-time":"2023-11-06T00:00:00Z","timestamp":1699228800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["DU1839\/2-1"],"award-info":[{"award-number":["DU1839\/2-1"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["Ma 2528\/8-1"],"award-info":[{"award-number":["Ma 2528\/8-1"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["RTG 2824"],"award-info":[{"award-number":["RTG 2824"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100019180","name":"HORIZON EUROPE European Research Council","doi-asserted-by":"publisher","award":["ERC Advanced Grant REVERSE"],"award-info":[{"award-number":["ERC Advanced Grant REVERSE"]}],"id":[{"id":"10.13039\/100019180","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100019180","name":"HORIZON EUROPE European Research Council","doi-asserted-by":"publisher","award":["European Research Council (ERC) Advanced Grant (ERCAdG No. 339580)"],"award-info":[{"award-number":["European Research Council (ERC) Advanced Grant (ERCAdG No. 339580)"]}],"id":[{"id":"10.13039\/100019180","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Universit\u00e4tsklinikum W\u00fcrzburg"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Basic Res Cardiol"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Barth Syndrome (BTHS) is an inherited cardiomyopathy caused by defects in the mitochondrial transacylase TAFAZZIN (\n                    <jats:italic>Taz<\/jats:italic>\n                    ), required for the synthesis of the phospholipid cardiolipin. BTHS is characterized by heart failure, increased propensity for arrhythmias and a blunted inotropic reserve. Defects in Ca\n                    <jats:sup>2+<\/jats:sup>\n                    -induced Krebs cycle activation contribute to these functional defects, but despite oxidation of pyridine nucleotides, no oxidative stress developed in the heart. Here, we investigated how retrograde signaling pathways orchestrate metabolic rewiring to compensate for mitochondrial defects. In mice with an inducible knockdown (KD) of TAFAZZIN, and in induced pluripotent stem cell-derived cardiac myocytes, mitochondrial uptake and oxidation of fatty acids was strongly decreased, while glucose uptake was increased. Unbiased transcriptomic analyses revealed that the activation of the eIF2\u03b1\/ATF4 axis of the integrated stress response upregulates one-carbon metabolism, which diverts glycolytic intermediates towards the biosynthesis of serine and fuels the biosynthesis of glutathione. In addition, strong upregulation of the glutamate\/cystine antiporter xCT increases cardiac cystine import required for glutathione synthesis. Increased glutamate uptake facilitates anaplerotic replenishment of the Krebs cycle, sustaining energy production and antioxidative pathways. These data indicate that ATF4-driven rewiring of metabolism compensates for defects in mitochondrial uptake of fatty acids to sustain energy production and antioxidation.\n                  <\/jats:p>","DOI":"10.1007\/s00395-023-01017-x","type":"journal-article","created":{"date-parts":[[2023,11,6]],"date-time":"2023-11-06T11:02:25Z","timestamp":1699268545000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["Activation of the integrated stress response rewires cardiac metabolism in Barth syndrome"],"prefix":"10.1007","volume":"118","author":[{"given":"Ilona","family":"Kutschka","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edoardo","family":"Bertero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina","family":"Wasmus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ke","family":"Xiao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lifeng","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinyu","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasuhiro","family":"Oshima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcus","family":"Fischer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuela","family":"Erk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Berkan","family":"Arslan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lin","family":"Alhasan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daria","family":"Grosser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katharina J.","family":"Ermer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"Nickel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Kohlhaas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanna","family":"Eberl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabine","family":"Rebs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katrin","family":"Streckfuss-B\u00f6meke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Werner","family":"Schmitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Rehling","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Thum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takahiro","family":"Higuchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joshua","family":"Rabinowitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christoph","family":"Maack","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Dudek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,11,6]]},"reference":[{"key":"1017_CR1","doi-asserted-by":"publisher","first-page":"899","DOI":"10.1074\/jbc.M110.171439","volume":"286","author":"D Acehan","year":"2011","unstructured":"Acehan D, Vaz F, Houtkooper RH, James J, Moore V, Tokunaga C, Kulik W, Wansapura J, Toth MJ, Strauss A, Khuchua Z (2011) Cardiac and skeletal muscle defects in a mouse model of human Barth syndrome. J Biol Chem 286:899\u2013908. https:\/\/doi.org\/10.1074\/jbc.M110.171439","journal-title":"J Biol Chem"},{"key":"1017_CR2","doi-asserted-by":"publisher","first-page":"116","DOI":"10.1161\/HYPERTENSIONAHA.109.135715","volume":"55","author":"N Ardanaz","year":"2010","unstructured":"Ardanaz N, Yang XP, Cifuentes ME, Haurani MJ, Jackson KW, Liao TD, Carretero OA, Pagano PJ (2010) Lack of glutathione peroxidase 1 accelerates cardiac-specific hypertrophy and dysfunction in angiotensin II hypertension. Hypertension 55:116\u2013123. https:\/\/doi.org\/10.1161\/HYPERTENSIONAHA.109.135715","journal-title":"Hypertension"},{"key":"1017_CR3","doi-asserted-by":"publisher","first-page":"259","DOI":"10.1161\/CIRCULATIONAHA.119.044452","volume":"142","author":"R Badolia","year":"2020","unstructured":"Badolia R, Ramadurai DKA, Abel ED, Ferrin P, Taleb I, Shankar TS, Krokidi AT, Navankasattusas S, McKellar SH, Yin M, Kfoury AG, Wever-Pinzon O, Fang JC, Selzman CH, Chaudhuri D, Rutter J, Drakos SG (2020) The role of nonglycolytic glucose metabolism in myocardial recovery upon mechanical unloading and circulatory support in chronic heart failure. Circulation 142:259\u2013274. https:\/\/doi.org\/10.1161\/CIRCULATIONAHA.119.044452","journal-title":"Circulation"},{"key":"1017_CR4","doi-asserted-by":"publisher","first-page":"327","DOI":"10.1016\/0022-510x(83)90209-5","volume":"62","author":"P Barth","year":"1983","unstructured":"Barth P, Scholte H, Berden J, Van der Klei-Van MJ, Luyt-Houwen I et al (1983) 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","journal-title":"J Neurol Sci"},{"key":"1017_CR5","doi-asserted-by":"publisher","first-page":"1460","DOI":"10.1161\/CIRCRESAHA.118.310082","volume":"122","author":"E Bertero","year":"2018","unstructured":"Bertero E, Maack C (2018) Calcium signaling and reactive oxygen species in mitochondria. Circ Res 122:1460\u20131478. https:\/\/doi.org\/10.1161\/CIRCRESAHA.118.310082","journal-title":"Circ Res"},{"key":"1017_CR6","doi-asserted-by":"publisher","first-page":"1694","DOI":"10.1161\/CIRCULATIONAHA.121.053755","volume":"144","author":"E Bertero","year":"2021","unstructured":"Bertero E, Nickel A, Kohlhaas M, Hohl M, Sequeira V, Brune C, Schwemmlein J, Abesser M, Schuh K, Kutschka I, Carlein C, Munker K, Atighetchi S, Muller A, Kazakov A, Kappl R, von der Malsburg K, van der Laan M, Schiuma AF, Bohm M, Laufs U, Hoth M, Rehling P, Kuhn M, Dudek J, von der Malsburg A, Prates Roma L, Maack C (2021) Loss of mitochondrial Ca(2+) uniporter limits inotropic reserve and provides trigger and substrate for arrhythmias in Barth syndrome cardiomyopathy. Circulation 144:1694\u20131713. https:\/\/doi.org\/10.1161\/CIRCULATIONAHA.121.053755","journal-title":"Circulation"},{"key":"1017_CR7","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.121.053755","author":"E Bertero","year":"2021","unstructured":"Bertero E, Nickel A, Kohlhaas M, Hohl M, Sequeira V, Brune C, Schwemmlein J, Abesser M, Schuh K, Kutschka I, Carlein C, Munker K, Atighetchi S, Muller A, Kazakov A, Kappl R, von der Malsburg K, van der Laan M, Schiuma AF, Bohm M, Laufs U, Hoth M, Rehling P, Kuhn M, Dudek J, von der Malsburg A, Prates Roma L, Maack C (2021) Loss of mitochondrial Ca(2+) uniporter limits inotropic reserve and provides trigger and substrate for arrhythmias in barth syndrome cardiomyopathy. Circulation. https:\/\/doi.org\/10.1161\/CIRCULATIONAHA.121.053755","journal-title":"Circulation"},{"key":"1017_CR8","doi-asserted-by":"publisher","first-page":"327","DOI":"10.1016\/0925-4439(93)90058-9","volume":"1180","author":"C Bertrand","year":"1993","unstructured":"Bertrand C, Largilli\u00e8re C, Zabot MT, Mathieu M, Vianey-Saban C (1993) Very long chain acyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts. Biochim Biophys Acta 1180:327\u2013329. https:\/\/doi.org\/10.1016\/0925-4439(93)90058-9","journal-title":"Biochim Biophys Acta"},{"key":"1017_CR9","doi-asserted-by":"publisher","first-page":"385","DOI":"10.1038\/ng0496-385","volume":"12","author":"S Bione","year":"1996","unstructured":"Bione S, D\u2019Adamo P, Maestrini E, Gedeon A, Bolhuis P, Toniolo D (1996) A novel X-linked gene, G4.5. is responsible for Barth syndrome. Nat Genet 12:385\u2013389. https:\/\/doi.org\/10.1038\/ng0496-385","journal-title":"Nat Genet"},{"key":"1017_CR10","doi-asserted-by":"publisher","first-page":"74","DOI":"10.1002\/jmd2.12244","volume":"62","author":"KL Bohnert","year":"2021","unstructured":"Bohnert KL, Ditzenberger G, Bittel AJ, de Las FL, Corti M, Pacak CA, Taylor C, Byrne BJ, Reeds DN, Cade WT (2021) Resistance exercise training with protein supplementation improves skeletal muscle strength and improves quality of life in late adolescents and young adults with Barth syndrome: a pilot study. JIMD Rep 62:74\u201384. https:\/\/doi.org\/10.1002\/jmd2.12244","journal-title":"JIMD Rep"},{"key":"1017_CR11","doi-asserted-by":"publisher","first-page":"369","DOI":"10.1146\/annurev-nutr-071715-050738","volume":"36","author":"ME Brosnan","year":"2016","unstructured":"Brosnan ME, Brosnan JT (2016) Formate: the neglected member of one-carbon metabolism. Annu Rev Nutr 36:369\u2013388. https:\/\/doi.org\/10.1146\/annurev-nutr-071715-050738","journal-title":"Annu Rev Nutr"},{"key":"1017_CR12","doi-asserted-by":"publisher","first-page":"480","DOI":"10.1002\/jimd.12094","volume":"42","author":"WT Cade","year":"2019","unstructured":"Cade WT, Bohnert KL, Peterson LR, Patterson BW, Bittel AJ, Okunade AL, de Las FL, Steger-May K, Bashir A, Schweitzer GG, Chacko SK, Wanders RJ, Pacak CA, Byrne BJ, Reeds DN (2019) Blunted fat oxidation upon submaximal exercise is partially compensated by enhanced glucose metabolism in children, adolescents, and young adults with Barth syndrome. J Inherit Metab Dis 42:480\u2013493. https:\/\/doi.org\/10.1002\/jimd.12094","journal-title":"J Inherit Metab Dis"},{"key":"1017_CR13","doi-asserted-by":"publisher","first-page":"1649","DOI":"10.1007\/s12350-019-01933-3","volume":"28","author":"WT Cade","year":"2021","unstructured":"Cade WT, Laforest R, Bohnert KL, Reeds DN, Bittel AJ, de Las FL, Bashir A, Woodard PK, Pacak CA, Byrne BJ, Gropler RJ, Peterson LR (2021) Myocardial glucose and fatty acid metabolism is altered and associated with lower cardiac function in young adults with Barth syndrome. J Nucl Cardiol 28:1649\u20131659. https:\/\/doi.org\/10.1007\/s12350-019-01933-3","journal-title":"J Nucl Cardiol"},{"key":"1017_CR14","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1007\/s10545-012-9486-x","volume":"36","author":"WT Cade","year":"2013","unstructured":"Cade WT, Spencer CT, Reeds DN, Waggoner AD, O\u2019Connor R, Maisenbacher M, Crowley JR, Byrne BJ, Peterson LR (2013) 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","journal-title":"J Inherit Metab Dis"},{"key":"1017_CR15","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1002\/jimd.12459","volume":"45","author":"KC Chatfield","year":"2022","unstructured":"Chatfield KC, Sparagna GC, Specht KS, Whitcomb LA, Omar AK, Miyamoto SD, Wolfe LM, Chicco AJ (2022) Long-chain fatty acid oxidation and respiratory complex I deficiencies distinguish Barth Syndrome from idiopathic pediatric cardiomyopathy. J Inherit Metab Dis 45:111\u2013124. https:\/\/doi.org\/10.1002\/jimd.12459","journal-title":"J Inherit Metab Dis"},{"key":"1017_CR16","doi-asserted-by":"publisher","first-page":"15363","DOI":"10.1073\/pnas.2002250117","volume":"117","author":"JD Chavez","year":"2020","unstructured":"Chavez JD, Tang X, Campbell MD, Reyes G, Kramer PA, Stuppard R, Keller A, Zhang H, Rabinovitch PS, Marcinek DJ, Bruce JE (2020) Mitochondrial protein interaction landscape of SS-31. Proc Natl Acad Sci U S A 117:15363\u201315373. https:\/\/doi.org\/10.1073\/pnas.2002250117","journal-title":"Proc Natl Acad Sci U S A"},{"key":"1017_CR17","doi-asserted-by":"publisher","first-page":"5593","DOI":"10.1038\/onc.2017.146","volume":"36","author":"D Chen","year":"2017","unstructured":"Chen D, Fan Z, Rauh M, Buchfelder M, Eyupoglu IY, Savaskan N (2017) ATF4 promotes angiogenesis and neuronal cell death and confers ferroptosis in a xCT-dependent manner. Oncogene 36:5593\u20135608. https:\/\/doi.org\/10.1038\/onc.2017.146","journal-title":"Oncogene"},{"issue":"561\u2013570","key":"1017_CR18","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2018.09.057","volume":"25","author":"A Chowdhury","year":"2018","unstructured":"Chowdhury A, Aich A, Jain G, Wozny K, Luchtenborg C, Hartmann M, Bernhard O, Balleiniger M, Alfar EA, Zieseniss A, Toischer K, Guan K, Rizzoli SO, Brugger B, Fischer A, Katschinski DM, Rehling P, Dudek J (2018) Defective mitochondrial cardiolipin remodeling dampens HIF-1alpha expression in hypoxia. Cell Rep 25(561\u2013570):e566. https:\/\/doi.org\/10.1016\/j.celrep.2018.09.057","journal-title":"Cell Rep"},{"key":"1017_CR19","doi-asserted-by":"publisher","unstructured":"Chowdhury A, Boshnakovska A, Aich A, Methi A, Vergel Leon AM, Silbern I, Luchtenborg C, Cyganek L, Prochazka J, Sedlacek R, Lindovsky J, Wachs D, Nichtova Z, Zudova D, Koubkova G, Fischer A, Urlaub H, Brugger B, Katschinski DM, Dudek J, Rehling P (2023) Metabolic switch from fatty acid oxidation to glycolysis in knock-in mouse model of Barth syndrome. EMBO Mol Med https:\/\/doi.org\/10.15252\/emmm.202317399","DOI":"10.15252\/emmm.202317399"},{"key":"1017_CR20","doi-asserted-by":"publisher","first-page":"1251","DOI":"10.1007\/s00246-022-02846-8","volume":"43","author":"S Chowdhury","year":"2022","unstructured":"Chowdhury S, Jackson L, Byrne BJ, Bryant RM, Cade WT, Churchill TL, Buchanan J, Taylor C (2022) Longitudinal observational study of cardiac outcome risk factor prediction in children, adolescents, and adults with Barth syndrome. Pediatr Cardiol 43:1251\u20131263. https:\/\/doi.org\/10.1007\/s00246-022-02846-8","journal-title":"Pediatr Cardiol"},{"key":"1017_CR21","doi-asserted-by":"publisher","DOI":"10.1126\/science.aat5314","author":"M Costa-Mattioli","year":"2020","unstructured":"Costa-Mattioli M, Walter P (2020) The integrated stress response: From mechanism to disease. Science. https:\/\/doi.org\/10.1126\/science.aat5314","journal-title":"Science"},{"key":"1017_CR22","doi-asserted-by":"publisher","first-page":"1453","DOI":"10.1093\/bioinformatics\/bth078","volume":"20","author":"MJ de Hoon","year":"2004","unstructured":"de Hoon MJ, Imoto S, Nolan J, Miyano S (2004) Open source clustering software. Bioinformatics 20:1453\u20131454. https:\/\/doi.org\/10.1093\/bioinformatics\/bth078","journal-title":"Bioinformatics"},{"key":"1017_CR23","doi-asserted-by":"publisher","first-page":"585","DOI":"10.1016\/0092-8674(92)90193-g","volume":"68","author":"TE Dever","year":"1992","unstructured":"Dever TE, Feng L, Wek RC, Cigan AM, Donahue TF, Hinnebusch AG (1992) Phosphorylation of initiation factor 2 alpha by protein kinase GCN2 mediates gene-specific translational control of GCN4 in yeast. Cell 68:585\u2013596. https:\/\/doi.org\/10.1016\/0092-8674(92)90193-g","journal-title":"Cell"},{"key":"1017_CR24","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1093\/bioinformatics\/bts635","volume":"29","author":"A Dobin","year":"2013","unstructured":"Dobin A, Davis CA, Schlesinger F, Drenkow J, Zaleski C, Jha S, Batut P, Chaisson M, Gingeras TR (2013) STAR: ultrafast universal RNA-seq aligner. Bioinformatics 29:15\u201321. https:\/\/doi.org\/10.1093\/bioinformatics\/bts635","journal-title":"Bioinformatics"},{"key":"1017_CR25","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1016\/j.cmet.2016.08.009","volume":"25","author":"GS Ducker","year":"2017","unstructured":"Ducker GS, Rabinowitz JD (2017) One-carbon metabolism in health and disease. Cell Metab 25:27\u201342. https:\/\/doi.org\/10.1016\/j.cmet.2016.08.009","journal-title":"Cell Metab"},{"key":"1017_CR26","doi-asserted-by":"publisher","first-page":"806","DOI":"10.1016\/j.scr.2013.05.005","volume":"11","author":"J Dudek","year":"2013","unstructured":"Dudek J, Cheng IF, Balleininger M, Vaz FM, Streckfuss-B\u00f6meke K, H\u00fcbscher D, Vukotic M, Wanders RJA, Rehling P, Guan K (2013) Cardiolipin deficiency affects respiratory chain function and organization in an induced pluripotent stem cell model of Barth syndrome. Stem Cell Res 11:806\u2013819. https:\/\/doi.org\/10.1016\/j.scr.2013.05.005","journal-title":"Stem Cell Res"},{"key":"1017_CR27","doi-asserted-by":"publisher","first-page":"139","DOI":"10.15252\/emmm.201505644","volume":"8","author":"J Dudek","year":"2015","unstructured":"Dudek J, Cheng IF, Chowdhury A, Wozny K, Balleininger M, Reinhold R, Grunau S, Callegari S, Toischer K, Wanders RJA, Hasenfuss G, Br\u00fcgger B, Guan K, Rehling P (2015) Cardiac-specific succinate dehydrogenase deficiency in Barth syndrome. EMBO Mol Med 8:139\u2013154. https:\/\/doi.org\/10.15252\/emmm.201505644","journal-title":"EMBO Mol Med"},{"key":"1017_CR28","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1152\/physiolgenomics.1999.1.2.51","volume":"1","author":"KM Elgadi","year":"1999","unstructured":"Elgadi KM, Meguid RA, Qian M, Souba WW, Abcouwer SF (1999) Cloning and analysis of unique human glutaminase isoforms generated by tissue-specific alternative splicing. Physiol Genom 1:51\u201362. https:\/\/doi.org\/10.1152\/physiolgenomics.1999.1.2.51","journal-title":"Physiol Genom"},{"key":"1017_CR29","doi-asserted-by":"publisher","first-page":"298","DOI":"10.1038\/nature13236","volume":"510","author":"J Fan","year":"2014","unstructured":"Fan J, Ye J, Kamphorst JJ, Shlomi T, Thompson CB, Rabinowitz JD (2014) Quantitative flux analysis reveals folate-dependent NADPH production. Nature 510:298\u2013302. https:\/\/doi.org\/10.1038\/nature13236","journal-title":"Nature"},{"key":"1017_CR30","doi-asserted-by":"publisher","first-page":"486","DOI":"10.1161\/CIRCRESAHA.120.316509","volume":"127","author":"X Fang","year":"2020","unstructured":"Fang X, Cai Z, Wang H, Han D, Cheng Q, Zhang P, Gao F, Yu Y, Song Z, Wu Q, An P, Huang S, Pan J, Chen HZ, Chen J, Linkermann A, Min J, Wang F (2020) Loss of cardiac ferritin H facilitates cardiomyopathy via Slc7a11-mediated ferroptosis. Circ Res 127:486\u2013501. https:\/\/doi.org\/10.1161\/CIRCRESAHA.120.316509","journal-title":"Circ Res"},{"key":"1017_CR31","doi-asserted-by":"publisher","DOI":"10.3390\/metabo9120306","author":"EM Fatica","year":"2019","unstructured":"Fatica EM, DeLeonibus GA, House A, Kodger JV, Pearce RW, Shah RR, Levi L, Sandlers Y (2019) Barth syndrome: exploring cardiac metabolism with induced pluripotent stem cell-derived cardiomyocytes. Metabolites. https:\/\/doi.org\/10.3390\/metabo9120306","journal-title":"Metabolites"},{"key":"1017_CR32","unstructured":"Ferreira C, Thompson R, Vernon H (2014) Barth Syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A (eds) GeneReviews((R)). Seattle (WA)"},{"key":"1017_CR33","doi-asserted-by":"publisher","first-page":"433","DOI":"10.1038\/s41586-020-2076-4","volume":"579","author":"E Fessler","year":"2020","unstructured":"Fessler E, Eckl EM, Schmitt S, Mancilla IA, Meyer-Bender MF, Hanf M, Philippou-Massier J, Krebs S, Zischka H, Jae LT (2020) A pathway coordinated by DELE1 relays mitochondrial stress to the cytosol. Nature 579:433\u2013437. https:\/\/doi.org\/10.1038\/s41586-020-2076-4","journal-title":"Nature"},{"key":"1017_CR34","doi-asserted-by":"publisher","first-page":"16383","DOI":"10.1073\/pnas.2000640117","volume":"117","author":"S Ghosh","year":"2020","unstructured":"Ghosh S, Basu Ball W, Madaris TR, Srikantan S, Madesh M, Mootha VK, Gohil VM (2020) An essential role for cardiolipin in the stability and function of the mitochondrial calcium uniporter. Proc Natl Acad Sci USA 117:16383\u201316390. https:\/\/doi.org\/10.1073\/pnas.2000640117","journal-title":"Proc Natl Acad Sci USA"},{"key":"1017_CR35","doi-asserted-by":"publisher","DOI":"10.1002\/1873-3468.13973","author":"RLS Goncalves","year":"2020","unstructured":"Goncalves RLS, Schlame M, Bartelt A, Brand MD, Hotamisligil GS (2020) Cardiolipin deficiency in Barth syndrome is not associated with increased superoxide\/H2 O2 production in heart and skeletal muscle mitochondria. FEBS Lett. https:\/\/doi.org\/10.1002\/1873-3468.13973","journal-title":"FEBS Lett"},{"key":"1017_CR36","doi-asserted-by":"publisher","DOI":"10.1002\/1873-3468.13973","author":"RLS Goncalves","year":"2020","unstructured":"Goncalves RLS, Schlame M, Bartelt A, Brand MD, Hotam\u0131\u015fl\u0131gil GS (2020) Cardiolipin deficiency in Barth syndrome is not associated with increased superoxide\/H(2) O(2) production in heart and skeletal muscle mitochondria. FEBS Lett. https:\/\/doi.org\/10.1002\/1873-3468.13973","journal-title":"FEBS Lett"},{"key":"1017_CR37","doi-asserted-by":"publisher","first-page":"1194","DOI":"10.1016\/j.bbadis.2013.03.005","volume":"1832","author":"F Gonzalvez","year":"2013","unstructured":"Gonzalvez F, D\u2019Aurelio M, Boutant M, Moustapha A, Puech J-P, Landes T, Arnaun\u00e9-Pelloquin L, Vial G, Taleux N, Slomianny C, Wanders RJ, Houtkooper RH, Bellenguer P, M\u00f8ller IM, Gottlieb E, Vaz FM, Manfredi G, Petit PX (2013) Barth syndrome: cellular compensation of mitochondrial dysfunction and apoptosis inhibition due to changes in cardiolipin remodeling linked to tafazzin (TAZ) gene mutation. Biochim Biophys Acta 1832:1194\u20131206. https:\/\/doi.org\/10.1016\/j.bbadis.2013.03.005","journal-title":"Biochim Biophys Acta"},{"key":"1017_CR38","doi-asserted-by":"publisher","first-page":"H2255","DOI":"10.1152\/ajpheart.00873.2020","volume":"320","author":"AA Greenwell","year":"2021","unstructured":"Greenwell AA, Gopal K, Altamimi TR, Saed CT, Wang F, Tabatabaei Dakhili SA, Ho KL, Zhang L, Eaton F, Kruger J, Al Batran R, Lopaschuk GD, Oudit GY, Ussher JR (2021) Barth syndrome-related cardiomyopathy is associated with a reduction in myocardial glucose oxidation. Am J Physiol Heart Circ Physiol 320:H2255\u2013H2269. https:\/\/doi.org\/10.1152\/ajpheart.00873.2020","journal-title":"Am J Physiol Heart Circ Physiol"},{"key":"1017_CR39","doi-asserted-by":"publisher","first-page":"427","DOI":"10.1038\/s41586-020-2078-2","volume":"579","author":"X Guo","year":"2020","unstructured":"Guo X, Aviles G, Liu Y, Tian R, Unger BA, Lin YT, Wiita AP, Xu K, Correia MA, Kampmann M (2020) Mitochondrial stress is relayed to the cytosol by an OMA1-DELE1-HRI pathway. Nature 579:427\u2013432. https:\/\/doi.org\/10.1038\/s41586-020-2078-2","journal-title":"Nature"},{"key":"1017_CR40","doi-asserted-by":"publisher","first-page":"1099","DOI":"10.1016\/s1097-2765(00)00108-8","volume":"6","author":"HP Harding","year":"2000","unstructured":"Harding HP, Novoa I, Zhang Y, Zeng H, Wek R, Schapira M, Ron D (2000) Regulated translation initiation controls stress-induced gene expression in mammalian cells. Mol Cell 6:1099\u20131108. https:\/\/doi.org\/10.1016\/s1097-2765(00)00108-8","journal-title":"Mol Cell"},{"key":"1017_CR41","doi-asserted-by":"publisher","first-page":"271","DOI":"10.1038\/16729","volume":"397","author":"HP Harding","year":"1999","unstructured":"Harding HP, Zhang Y, Ron D (1999) Protein translation and folding are coupled by an endoplasmic-reticulum-resident kinase. Nature 397:271\u2013274. https:\/\/doi.org\/10.1038\/16729","journal-title":"Nature"},{"key":"1017_CR42","doi-asserted-by":"publisher","first-page":"619","DOI":"10.1016\/s1097-2765(03)00105-9","volume":"11","author":"HP Harding","year":"2003","unstructured":"Harding HP, Zhang Y, Zeng H, Novoa I, Lu PD, Calfon M, Sadri N, Yun C, Popko B, Paules R, Stojdl DF, Bell JC, Hettmann T, Leiden JM, Ron D (2003) An integrated stress response regulates amino acid metabolism and resistance to oxidative stress. Mol Cell 11:619\u2013633. https:\/\/doi.org\/10.1016\/s1097-2765(03)00105-9","journal-title":"Mol Cell"},{"key":"1017_CR43","doi-asserted-by":"publisher","first-page":"230","DOI":"10.1016\/j.ab.2009.01.032","volume":"387","author":"RH Houtkooper","year":"2009","unstructured":"Houtkooper RH, Rodenburg RJ, Thiels C, van Lenthe H, Stet F, Poll-The BT, Stone JE, Steward CG, Wanders RJ, Smeitink J, Kulik W, Vaz FM (2009) Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography-mass spectrometry as a diagnostic test for Barth syndrome. Anal Biochem 387:230\u2013237. https:\/\/doi.org\/10.1016\/j.ab.2009.01.032","journal-title":"Anal Biochem"},{"key":"1017_CR44","doi-asserted-by":"publisher","first-page":"44","DOI":"10.1038\/nprot.2008.211","volume":"4","author":"W da Huang","year":"2009","unstructured":"da Huang W, Sherman BT, Lempicki RA (2009) Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources. Nat Protoc 4:44\u201357. https:\/\/doi.org\/10.1038\/nprot.2008.211","journal-title":"Nat Protoc"},{"key":"1017_CR45","doi-asserted-by":"publisher","first-page":"115","DOI":"10.1038\/nature24057","volume":"551","author":"S Hui","year":"2017","unstructured":"Hui S, Ghergurovich JM, Morscher RJ, Jang C, Teng X, Lu W, Esparza LA, Reya T, Le Z, Yanxiang Guo J, White E, Rabinowitz JD (2017) Glucose feeds the TCA cycle via circulating lactate. Nature 551:115\u2013118. https:\/\/doi.org\/10.1038\/nature24057","journal-title":"Nature"},{"key":"1017_CR46","doi-asserted-by":"publisher","first-page":"1153","DOI":"10.1002\/iub.271","volume":"61","author":"HO Jin","year":"2009","unstructured":"Jin HO, Seo SK, Woo SH, Choe TB, Hong SI, Kim JI, Park IC (2009) Nuclear protein 1 induced by ATF4 in response to various stressors acts as a positive regulator on the transcriptional activation of ATF4. IUBMB Life 61:1153\u20131158. https:\/\/doi.org\/10.1002\/iub.271","journal-title":"IUBMB Life"},{"key":"1017_CR47","doi-asserted-by":"publisher","first-page":"94","DOI":"10.1016\/j.yjmcc.2018.07.001","volume":"121","author":"JM Johnson","year":"2018","unstructured":"Johnson JM, Ferrara PJ, Verkerke ARP, Coleman CB, Wentzler EJ, Neufer PD, Kew KA, de Castro Bras LE, Funai K (2018) Targeted overexpression of catalase to mitochondria does not prevent cardioskeletal myopathy in Barth syndrome. J Mol Cell Cardiol 121:94\u2013102. https:\/\/doi.org\/10.1016\/j.yjmcc.2018.07.001","journal-title":"J Mol Cell Cardiol"},{"key":"1017_CR48","doi-asserted-by":"publisher","first-page":"419","DOI":"10.1016\/j.cmet.2017.07.007","volume":"26","author":"NA Khan","year":"2017","unstructured":"Khan NA, Nikkanen J, Yatsuga S, Jackson C, Wang L, Pradhan S, Kivel\u00e4 R, Pessia A, Velagapudi V, Suomalainen A (2017) mTORC1 regulates mitochondrial integrated stress response and mitochondrial myopathy progression. Cell Metab 26:419-428.e415. https:\/\/doi.org\/10.1016\/j.cmet.2017.07.007","journal-title":"Cell Metab"},{"key":"1017_CR49","doi-asserted-by":"publisher","first-page":"1312","DOI":"10.1194\/jlr.M034728","volume":"54","author":"MA Kiebish","year":"2013","unstructured":"Kiebish MA, Yang K, Liu X, Mancuso DJ, Guan S, Zhao Z, Sims HF, Cerqua R, Cade WT, Han X, Gross RW (2013) Dysfunctional cardiac mitochondrial bioenergetic, lipidomic, and signaling in a murine model of Barth syndrome. J Lipid Res 54:1312\u20131325. https:\/\/doi.org\/10.1194\/jlr.M034728","journal-title":"J Lipid Res"},{"key":"1017_CR50","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1016\/j.mito.2018.10.005","volume":"43","author":"J Kim","year":"2018","unstructured":"Kim J, Lee K, Fujioka H, Tandler B, Hoppel CL (2018) Cardiac mitochondrial structure and function in tafazzin-knockdown mice. Mitochondrion 43:53\u201362. https:\/\/doi.org\/10.1016\/j.mito.2018.10.005","journal-title":"Mitochondrion"},{"key":"1017_CR51","doi-asserted-by":"publisher","first-page":"1606","DOI":"10.1161\/CIRCULATIONAHA.109.914911","volume":"121","author":"M Kohlhaas","year":"2010","unstructured":"Kohlhaas M, Liu T, Knopp A, Zeller T, Ong MF, Bohm M, O\u2019Rourke B, Maack C (2010) Elevated cytosolic Na+ increases mitochondrial formation of reactive oxygen species in failing cardiac myocytes. Circulation 121:1606\u20131613. https:\/\/doi.org\/10.1161\/CIRCULATIONAHA.109.914911","journal-title":"Circulation"},{"key":"1017_CR52","doi-asserted-by":"publisher","first-page":"599","DOI":"10.1007\/s13238-020-00789-5","volume":"12","author":"P Koppula","year":"2021","unstructured":"Koppula P, Zhuang L, Gan B (2021) Cystine transporter SLC7A11\/xCT in cancer: ferroptosis, nutrient dependency, and cancer therapy. Protein Cell 12:599\u2013620. https:\/\/doi.org\/10.1007\/s13238-020-00789-5","journal-title":"Protein Cell"},{"key":"1017_CR53","doi-asserted-by":"publisher","first-page":"8985","DOI":"10.1073\/pnas.1400514111","volume":"111","author":"E Kovacs-Bogdan","year":"2014","unstructured":"Kovacs-Bogdan E, Sancak Y, Kamer KJ, Plovanich M, Jambhekar A, Huber RJ, Myre MA, Blower MD, Mootha VK (2014) Reconstitution of the mitochondrial calcium uniporter in yeast. Proc Natl Acad Sci U S A 111:8985\u20138990. https:\/\/doi.org\/10.1073\/pnas.1400514111","journal-title":"Proc Natl Acad Sci U S A"},{"key":"1017_CR54","doi-asserted-by":"publisher","first-page":"12485","DOI":"10.1074\/jbc.RA119.011229","volume":"295","author":"CH Le","year":"2020","unstructured":"Le CH, Benage LG, Specht KS, Li Puma LC, Mulligan CM, Heuberger AL, Prenni JE, Claypool SM, Chatfield KC, Sparagna GC, Chicco AJ (2020) Tafazzin deficiency impairs CoA-dependent oxidative metabolism in cardiac mitochondria. J Biol Chem 295:12485\u201312497. https:\/\/doi.org\/10.1074\/jbc.RA119.011229","journal-title":"J Biol Chem"},{"key":"1017_CR55","doi-asserted-by":"publisher","first-page":"522","DOI":"10.1089\/ars.2011.4391","volume":"18","author":"J Lewerenz","year":"2013","unstructured":"Lewerenz J, Hewett SJ, Huang Y, Lambros M, Gout PW, Kalivas PW, Massie A, Smolders I, Methner A, Pergande M, Smith SB, Ganapathy V, Maher P (2013) The cystine\/glutamate antiporter system x(c)(-) in health and disease: from molecular mechanisms to novel therapeutic opportunities. Antioxid Redox Signal 18:522\u2013555. https:\/\/doi.org\/10.1089\/ars.2011.4391","journal-title":"Antioxid Redox Signal"},{"key":"1017_CR56","doi-asserted-by":"publisher","first-page":"11568","DOI":"10.1074\/jbc.RA119.009037","volume":"294","author":"Y Li","year":"2019","unstructured":"Li Y, Lou W, Raja V, Denis S, Yu W, Schmidtke MW, Reynolds CA, Schlame M, Houtkooper RH, Greenberg ML (2019) 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","journal-title":"J Biol Chem"},{"key":"1017_CR57","doi-asserted-by":"publisher","first-page":"923","DOI":"10.1093\/bioinformatics\/btt656","volume":"30","author":"Y Liao","year":"2014","unstructured":"Liao Y, Smyth GK, Shi W (2014) featureCounts: an efficient general purpose program for assigning sequence reads to genomic features. Bioinformatics 30:923\u2013930. https:\/\/doi.org\/10.1093\/bioinformatics\/btt656","journal-title":"Bioinformatics"},{"key":"1017_CR58","doi-asserted-by":"publisher","first-page":"1894","DOI":"10.1161\/CIRCULATIONAHA.120.048698","volume":"143","author":"X Liu","year":"2021","unstructured":"Liu X, Wang S, Guo X, Li Y, Ogurlu R, Lu F, Prondzynski M, de la Serna BS, Ma Q, Zhang D, Wang G, Cotton J, Guo Y, Xiao L, Milan DJ, Xu Y, Schlame M, Bezzerides VJ, Pu WT (2021) Increased reactive oxygen species-mediated Ca(2+)\/calmodulin-dependent protein kinase II activation contributes to calcium handling abnormalities and impaired contraction in Barth syndrome. Circulation 143:1894\u20131911. https:\/\/doi.org\/10.1161\/CIRCULATIONAHA.120.048698","journal-title":"Circulation"},{"key":"1017_CR59","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1002\/ajmg.c.30087","volume":"142C","author":"N Longo","year":"2006","unstructured":"Longo N, di San A, Filippo C, Pasquali M (2006) Disorders of carnitine transport and the carnitine cycle. Am J Med Genet C Semin Med Genet 142C:77\u201385. https:\/\/doi.org\/10.1002\/ajmg.c.30087","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"1017_CR60","doi-asserted-by":"publisher","DOI":"10.1186\/s13059-014-0550-8","author":"MI Love","year":"2014","unstructured":"Love MI, Huber W, Anders S (2014) Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2. Genome Biol. https:\/\/doi.org\/10.1186\/s13059-014-0550-8","journal-title":"Genome Biol"},{"key":"1017_CR61","doi-asserted-by":"publisher","first-page":"1725","DOI":"10.1161\/CIRCULATIONAHA.118.037803","volume":"139","author":"H Ma","year":"2019","unstructured":"Ma H, Yu S, Liu X, Zhang Y, Fakadej T, Liu Z, Yin C, Shen W, Locasale JW, Taylor JM, Qian L, Liu J (2019) Lin28a regulates pathological cardiac hypertrophic growth through Pck2-mediated enhancement of anabolic synthesis. Circulation 139:1725\u20131740. https:\/\/doi.org\/10.1161\/CIRCULATIONAHA.118.037803","journal-title":"Circulation"},{"key":"1017_CR62","doi-asserted-by":"publisher","first-page":"364","DOI":"10.1126\/science.abc8861","volume":"370","author":"D Murashige","year":"2020","unstructured":"Murashige D, Jang C, Neinast M, Edwards JJ, Cowan A, Hyman MC, Rabinowitz JD, Frankel DS, Arany Z (2020) Comprehensive quantification of fuel use by the failing and nonfailing human heart. Science 370:364\u2013368. https:\/\/doi.org\/10.1126\/science.abc8861","journal-title":"Science"},{"key":"1017_CR63","doi-asserted-by":"publisher","first-page":"2968","DOI":"10.1161\/01.cir.0000019739.66514.1e","volume":"105","author":"S Nakamura","year":"2002","unstructured":"Nakamura S, Kugiyama K, Sugiyama S, Miyamoto S, Koide S, Fukushima H, Honda O, Yoshimura M, Ogawa H (2002) Polymorphism in the 5\u2019-flanking region of human glutamate-cysteine ligase modifier subunit gene is associated with myocardial infarction. Circulation 105:2968\u20132973. https:\/\/doi.org\/10.1161\/01.cir.0000019739.66514.1e","journal-title":"Circulation"},{"key":"1017_CR64","doi-asserted-by":"publisher","first-page":"635","DOI":"10.1016\/j.cmet.2016.01.019","volume":"23","author":"J Nikkanen","year":"2016","unstructured":"Nikkanen J, Forsstr\u00f6m S, Euro L, Paetau I, Kohnz RA, Wang L, Chilov D, Viinam\u00e4ki J, Roivainen A, Marjam\u00e4ki P, Liljenb\u00e4ck H, Ahola S, Buzkova J, Terzioglu M, Khan NA, Pirnes-Karhu S, Paetau A, L\u00f6nnqvist T, Sajantila A, Isohanni P, Tyynismaa H, Nomura DK, Battersby BJ, Velagapudi V, Carroll CJ, Suomalainen A (2016) Mitochondrial DNA replication defects disturb cellular dNTP pools and remodel one-carbon metabolism. Cell Metab 23:635\u2013648. https:\/\/doi.org\/10.1016\/j.cmet.2016.01.019","journal-title":"Cell Metab"},{"key":"1017_CR65","doi-asserted-by":"publisher","first-page":"654","DOI":"10.1016\/j.jacc.2017.11.067","volume":"71","author":"L Padron-Barthe","year":"2018","unstructured":"Padron-Barthe L, Villalba-Orero M, Gomez-Salinero JM, Acin-Perez R, Cogliati S, Lopez-Olaneta M, Ortiz-Sanchez P, Bonzon-Kulichenko E, Vazquez J, Garcia-Pavia P, Rosenthal N, Enriquez JA, Lara-Pezzi E (2018) Activation of serine one-carbon metabolism by calcineurin abeta1 reduces myocardial hypertrophy and improves ventricular function. J Am Coll Cardiol 71:654\u2013667. https:\/\/doi.org\/10.1016\/j.jacc.2017.11.067","journal-title":"J Am Coll Cardiol"},{"key":"1017_CR66","doi-asserted-by":"publisher","first-page":"10674","DOI":"10.1021\/jm301345v","volume":"55","author":"MK Pandey","year":"2012","unstructured":"Pandey MK, Belanger AP, Wang S, DeGrado TR (2012) Structure dependence of long-chain [18F]fluorothia fatty acids as myocardial fatty acid oxidation probes. J Med Chem 55:10674\u201310684. https:\/\/doi.org\/10.1021\/jm301345v","journal-title":"J Med Chem"},{"key":"1017_CR67","doi-asserted-by":"publisher","DOI":"10.3390\/genes13040656","author":"J Pang","year":"2022","unstructured":"Pang J, Bao Y, Mitchell-Silbaugh K, Veevers J, Fang X (2022) Barth syndrome cardiomyopathy: an update. Genes (Basel). https:\/\/doi.org\/10.3390\/genes13040656","journal-title":"Genes (Basel)"},{"key":"1017_CR68","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1016\/j.molmet.2019.05.012","volume":"33","author":"M Pietzke","year":"2020","unstructured":"Pietzke M, Meiser J, Vazquez A (2020) Formate metabolism in health and disease. Mol Metab 33:23\u201337. https:\/\/doi.org\/10.1016\/j.molmet.2019.05.012","journal-title":"Mol Metab"},{"key":"1017_CR69","doi-asserted-by":"publisher","DOI":"10.1093\/cvr\/cvac050","author":"P Ranea-Robles","year":"2022","unstructured":"Ranea-Robles P, Pavlova NN, Bender A, Pereyra AS, Ellis JM, Stauffer B, Yu C, Thompson CB, Argmann C, Puchowicz M, Houten SM (2022) A mitochondrial long-chain fatty acid oxidation defect leads to tRNA uncharging and activation of the integrated stress response in the mouse heart. Cardiovasc Res. https:\/\/doi.org\/10.1093\/cvr\/cvac050","journal-title":"Cardiovasc Res"},{"key":"1017_CR70","doi-asserted-by":"publisher","first-page":"1383","DOI":"10.1172\/JCI16784","volume":"110","author":"D Ron","year":"2002","unstructured":"Ron D (2002) Translational control in the endoplasmic reticulum stress response. J Clin Invest 110:1383\u20131388. https:\/\/doi.org\/10.1172\/JCI16784","journal-title":"J Clin Invest"},{"key":"1017_CR71","doi-asserted-by":"publisher","first-page":"19847","DOI":"10.1038\/s41598-022-24231-4","volume":"12","author":"S Russo","year":"2022","unstructured":"Russo S, De Rasmo D, Signorile A, Corcelli A, Lobasso S (2022) Beneficial effects of SS-31 peptide on cardiac mitochondrial dysfunction in tafazzin knockdown mice. Sci Rep 12:19847. https:\/\/doi.org\/10.1038\/s41598-022-24231-4","journal-title":"Sci Rep"},{"key":"1017_CR72","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.00498","volume":"2","author":"C Sidrauski","year":"2013","unstructured":"Sidrauski C, Acosta-Alvear D, Khoutorsky A, Vedantham P, Hearn BR, Li H, Gamache K, Gallagher CM, Ang KKH, Wilson C, Okreglak V, Ashkenazi A, Hann B, Nader K, Arkin MR, Renslo AR, Sonenberg N, Walter P (2013) Pharmacological brake-release of mRNA translation enhances cognitive memory. Elife 2:e00498. https:\/\/doi.org\/10.7554\/eLife.00498","journal-title":"Elife"},{"key":"1017_CR73","doi-asserted-by":"publisher","first-page":"865","DOI":"10.1089\/hum.2010.199","volume":"22","author":"MS Soustek","year":"2011","unstructured":"Soustek MS, Falk DJ, Mah CS, Toth MJ, Schlame M, Lewin AS, Byrne BJ (2011) Characterization of a transgenic short hairpin RNA-induced murine model of Tafazzin deficiency. Hum Gene Ther 22:865\u2013871. https:\/\/doi.org\/10.1089\/hum.2010.199","journal-title":"Hum Gene Ther"},{"key":"1017_CR74","doi-asserted-by":"publisher","first-page":"H2122","DOI":"10.1152\/ajpheart.00479.2010","volume":"301","author":"CT Spencer","year":"2011","unstructured":"Spencer CT, Byrne BJ, Bryant RM, Margossian R, Maisenbacher M, Breitenger P, Benni PB, Redfearn S, Marcus E, Cade WT (2011) Impaired cardiac reserve and severely diminished skeletal muscle O(2) utilization mediate exercise intolerance in Barth syndrome. Am J Physiol Heart Circ Physiol 301:H2122-2129. https:\/\/doi.org\/10.1152\/ajpheart.00479.2010","journal-title":"Am J Physiol Heart Circ Physiol"},{"key":"1017_CR75","doi-asserted-by":"publisher","first-page":"632","DOI":"10.1007\/s00246-005-0873-z","volume":"26","author":"CT Spencer","year":"2005","unstructured":"Spencer CT, Byrne BJ, Gewitz MH, Wechsler SB, Kao AC, Gerstenfeld EP, Merliss AD, Carboni MP, Bryant RM (2005) Ventricular arrhythmia in the X-linked cardiomyopathy Barth syndrome. Pediatr Cardiol 26:632\u2013637. https:\/\/doi.org\/10.1007\/s00246-005-0873-z","journal-title":"Pediatr Cardiol"},{"key":"1017_CR76","doi-asserted-by":"publisher","first-page":"539","DOI":"10.1146\/annurev.nutr.24.012003.132418","volume":"24","author":"MH Stipanuk","year":"2004","unstructured":"Stipanuk MH (2004) Sulfur amino acid metabolism: pathways for production and removal of homocysteine and cysteine. Annu Rev Nutr 24:539\u2013577. https:\/\/doi.org\/10.1146\/annurev.nutr.24.012003.132418","journal-title":"Annu Rev Nutr"},{"key":"1017_CR77","doi-asserted-by":"publisher","first-page":"10496","DOI":"10.1073\/pnas.92.23.10496","volume":"92","author":"AW Strauss","year":"1995","unstructured":"Strauss AW, Powell CK, Hale DE, Anderson MM, Ahuja A, Brackett JC, Sims HF (1995) Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood. Proc Natl Acad Sci U S A 92:10496\u201310500. https:\/\/doi.org\/10.1073\/pnas.92.23.10496","journal-title":"Proc Natl Acad Sci U S A"},{"key":"1017_CR78","doi-asserted-by":"publisher","first-page":"2029","DOI":"10.1111\/bph.12461","volume":"171","author":"HH Szeto","year":"2014","unstructured":"Szeto HH (2014) First-in-class cardiolipin-protective compound as a therapeutic agent to restore mitochondrial bioenergetics. Br J Pharmacol 171:2029\u20132050. https:\/\/doi.org\/10.1111\/bph.12461","journal-title":"Br J Pharmacol"},{"key":"1017_CR79","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1002\/jimd.12453","volume":"45","author":"R Thompson","year":"2022","unstructured":"Thompson R, Jefferies J, Wang S, Pu WT, Takemoto C, Hornby B, Heyman A, Chin MT, Vernon HJ (2022) Current and future treatment approaches for Barth syndrome. J Inherit Metab Dis 45:17\u201328. https:\/\/doi.org\/10.1002\/jimd.12453","journal-title":"J Inherit Metab Dis"},{"key":"1017_CR80","doi-asserted-by":"publisher","first-page":"3948","DOI":"10.1093\/hmg\/ddq310","volume":"19","author":"H Tyynismaa","year":"2010","unstructured":"Tyynismaa H, Carroll CJ, Raimundo N, Ahola-Erkkil\u00e4 S, Wenz T, Ruhanen H, Guse K, Hemminki A, Peltola-Mj\u00f8sund KE, Tulkki V, Oresic M, Moraes CT, Pietil\u00e4inen K, Hovatta I, Suomalainen A (2010) Mitochondrial myopathy induces a starvation-like response. Hum Mol Genet 19:3948\u20133958. https:\/\/doi.org\/10.1093\/hmg\/ddq310","journal-title":"Hum Mol Genet"},{"key":"1017_CR81","doi-asserted-by":"publisher","first-page":"1687","DOI":"10.1161\/CIRCULATIONAHA.120.051911","volume":"143","author":"P Umapathi","year":"2021","unstructured":"Umapathi P, Mesubi OO, Banerjee PS, Abrol N, Wang Q, Luczak ED, Wu Y, Granger JM, Wei AC, Reyes Gaido OE, Florea L, Talbot CC Jr, Hart GW, Zachara NE, Anderson ME (2021) Excessive O-GlcNAcylation causes heart failure and sudden death. Circulation 143:1687\u20131703. https:\/\/doi.org\/10.1161\/CIRCULATIONAHA.120.051911","journal-title":"Circulation"},{"key":"1017_CR82","doi-asserted-by":"publisher","first-page":"143","DOI":"10.1016\/j.ymgme.2014.03.007","volume":"112","author":"HJ Vernon","year":"2014","unstructured":"Vernon HJ, Sandlers Y, McClellan R, Kelley RI (2014) Clinical laboratory studies in Barth Syndrome. Mol Genet Metab 112:143\u2013147. https:\/\/doi.org\/10.1016\/j.ymgme.2014.03.007","journal-title":"Mol Genet Metab"},{"key":"1017_CR83","doi-asserted-by":"publisher","first-page":"174","DOI":"10.1038\/cr.2010.4","volume":"20","author":"C Wang","year":"2010","unstructured":"Wang C, Huang Z, Du Y, Cheng Y, Chen S, Guo F (2010) ATF4 regulates lipid metabolism and thermogenesis. Cell Res 20:174\u2013184. https:\/\/doi.org\/10.1038\/cr.2010.4","journal-title":"Cell Res"},{"key":"1017_CR84","doi-asserted-by":"publisher","first-page":"282","DOI":"10.1016\/j.metabol.2012.07.017","volume":"62","author":"C Wang","year":"2013","unstructured":"Wang C, Xia T, Du Y, Meng Q, Li H, Liu B, Chen S, Guo F (2013) Effects of ATF4 on PGC1alpha expression in brown adipose tissue and metabolic responses to cold stress. Metabolism 62:282\u2013289. https:\/\/doi.org\/10.1016\/j.metabol.2012.07.017","journal-title":"Metabolism"},{"key":"1017_CR85","doi-asserted-by":"publisher","first-page":"616","DOI":"10.1038\/nm.3545","volume":"20","author":"G Wang","year":"2014","unstructured":"Wang G, McCain ML, Yang L, He A, Pasqualini FS, Agarwal A, Yuan H, Jiang D, Zhang D, Zangi L, Geva J, Roberts AE, Ma Q, Ding J, Chen J, Wang D-Z, Li K, Wang J, Wanders RJA, Kulik W, Vaz FM, Laflamme MA, Murry CE, Chien KR, Kelley RI, Church GM, Parker KK, Pu WT (2014) Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies. Nat Med 20:616\u2013623. https:\/\/doi.org\/10.1038\/nm.3545","journal-title":"Nat Med"},{"key":"1017_CR86","doi-asserted-by":"publisher","first-page":"1024","DOI":"10.1161\/CIRCRESAHA.119.315956","volume":"126","author":"S Wang","year":"2020","unstructured":"Wang S, Li Y, Xu Y, Ma Q, Lin Z, Schlame M, Bezzerides VJ, Strathdee D, Pu WT (2020) 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","journal-title":"Circ Res"},{"key":"1017_CR87","doi-asserted-by":"publisher","first-page":"2055","DOI":"10.1093\/hmg\/ddad041","volume":"32","author":"S Wang","year":"2023","unstructured":"Wang S, Yazawa E, Keating EM, Mazumdar N, Hauschild A, Ma Q, Wu H, Xu Y, Shi X, Strathdee D, Gerszten RE, Schlame M, Pu WT (2023) 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","journal-title":"Hum Mol Genet"},{"key":"1017_CR88","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCRESAHA.122.321050","author":"X Wang","year":"2022","unstructured":"Wang X, Zhang G, Dasgupta S, Niewold EL, Li C, Li Q, Luo X, Tan L, Ferdous A, Lorenzi PL, Rothermel BA, Gillette TG, Adams CM, Scherer PE, Hill JA, Wang ZV (2022) ATF4 protects the heart from failure by antagonizing oxidative stress. Circ Res. https:\/\/doi.org\/10.1161\/CIRCRESAHA.122.321050","journal-title":"Circ Res"},{"key":"1017_CR89","doi-asserted-by":"publisher","first-page":"282","DOI":"10.1093\/cvr\/cvs333","volume":"97","author":"Y Watanabe","year":"2013","unstructured":"Watanabe Y, Watanabe K, Kobayashi T, Saito Y, Fujioka D, Nakamura T, Obata JE, Kawabata K, Mishina H, Kugiyama K (2013) Chronic depletion of glutathione exacerbates ventricular remodelling and dysfunction in the pressure-overloaded heart. Cardiovasc Res 97:282\u2013292. https:\/\/doi.org\/10.1093\/cvr\/cvs333","journal-title":"Cardiovasc Res"},{"issue":"809\u2013821","key":"1017_CR90","doi-asserted-by":"publisher","DOI":"10.1016\/j.cmet.2020.02.017","volume":"31","author":"L Yang","year":"2020","unstructured":"Yang L, Garcia Canaveras JC, Chen Z, Wang L, Liang L, Jang C, Mayr JA, Zhang Z, Ghergurovich JM, Zhan L, Joshi S, Hu Z, McReynolds MR, Su X, White E, Morscher RJ, Rabinowitz JD (2020) Serine catabolism feeds NADH when respiration is impaired. Cell Metab 31(809\u2013821):e806. https:\/\/doi.org\/10.1016\/j.cmet.2020.02.017","journal-title":"Cell Metab"},{"key":"1017_CR91","doi-asserted-by":"publisher","first-page":"1500","DOI":"10.1161\/CIRCULATIONAHA.120.053125","volume":"144","author":"G Zhang","year":"2021","unstructured":"Zhang G, Wang X, Li C, Li Q, An YA, Luo X, Deng Y, Gillette TG, Scherer PE, Wang ZV (2021) Integrated stress response couples mitochondrial protein translation with oxidative stress control. Circulation 144:1500\u20131515. https:\/\/doi.org\/10.1161\/CIRCULATIONAHA.120.053125","journal-title":"Circulation"},{"key":"1017_CR92","doi-asserted-by":"publisher","first-page":"2134","DOI":"10.1080\/15548627.2021.2020979","volume":"18","author":"J Zhang","year":"2022","unstructured":"Zhang J, Liu X, Nie J, Shi Y (2022) Restoration of mitophagy ameliorates cardiomyopathy in Barth syndrome. Autophagy 18:2134\u20132149. https:\/\/doi.org\/10.1080\/15548627.2021.2020979","journal-title":"Autophagy"},{"key":"1017_CR93","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCHEARTFAILURE.121.008289","volume":"14","author":"S Zhu","year":"2021","unstructured":"Zhu S, Chen Z, Zhu M, Shen Y, Leon LJ, Chi L, Spinozzi S, Tan C, Gu Y, Nguyen A, Zhou Y, Feng W, Vaz FM, Wang X, Gustafsson AB, Evans SM, Kunfu O, Fang X (2021) 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","journal-title":"Circ Heart Fail"},{"key":"1017_CR94","doi-asserted-by":"publisher","first-page":"1028","DOI":"10.1161\/CIRCULATIONAHA.122.059594","volume":"146","author":"S Zhu","year":"2022","unstructured":"Zhu S, Nguyen A, Pang J, Zhao J, Chen Z, Liang Z, Gu Y, Huynh H, Bao Y, Lee S, Kluger Y, Ouyang K, Evans SM, Fang X (2022) Mitochondrial stress induces an HRI-eIF2alpha pathway protective for cardiomyopathy. Circulation 146:1028\u20131031. https:\/\/doi.org\/10.1161\/CIRCULATIONAHA.122.059594","journal-title":"Circulation"}],"container-title":["Basic Research in Cardiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00395-023-01017-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00395-023-01017-x\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00395-023-01017-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,12,15]],"date-time":"2023-12-15T09:08:36Z","timestamp":1702631316000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00395-023-01017-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,11,6]]},"references-count":94,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2023,12]]}},"alternative-id":["1017"],"URL":"https:\/\/doi.org\/10.1007\/s00395-023-01017-x","relation":{},"ISSN":["1435-1803"],"issn-type":[{"value":"1435-1803","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,11,6]]},"assertion":[{"value":"14 February 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 September 2023","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 October 2023","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 November 2023","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"CM received speaker and consultancy honoraria from Boehringer Ingelheim, AstraZeneca and Novo Nordisk. TT is founder and shareholder of Cardior Pharmaceuticals (outside of this study). TT filed and licensed patents about the use of noncoding RNAs (outside of the paper).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}],"article-number":"47"}}