{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T14:27:20Z","timestamp":1791901640993,"version":"4.3.4"},"reference-count":71,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2024,11,13]],"date-time":"2024-11-13T00:00:00Z","timestamp":1731456000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"name":"Maryland TEDCO","award":["2018-MSCRFD-4237"],"award-info":[{"award-number":["2018-MSCRFD-4237"]}]},{"name":"Maryland TEDCO","award":["2002-MSCRFD-5837"],"award-info":[{"award-number":["2002-MSCRFD-5837"]}]},{"DOI":"10.13039\/100000057","name":"NIGMS","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000057","id-type":"DOI","asserted-by":"publisher"}]},{"name":"National Heart, Lung, and Blood Institute of the National Institutes of Health","award":["F31HL147454"],"award-info":[{"award-number":["F31HL147454"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,1,23]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Barth syndrome (BTHS) is a rare mitochondrial disease caused by pathogenic variants in the gene TAFAZZIN, which leads to abnormal cardiolipin (CL) metabolism on the inner mitochondrial membrane. Although TAFAZZIN is ubiquitously expressed, BTHS involves a complex combination of tissue specific phenotypes including cardiomyopathy, neutropenia, skeletal myopathy, and growth delays, with a relatively minimal neurological burden. To understand both the developmental and functional effects of TAZ-deficiency in different tissues, we generated isogenic TAZ knockout (TAZ-KO) and WT cardiomyocytes (CMs) and neural progenitor cells (NPCs) from CRISPR-edited induced pluripotent stem cells (iPSCs). In TAZ-KO CMs we discovered evidence of dysregulated mitophagy including dysmorphic mitochondria and mitochondrial cristae, differential expression of key autophagy-associated genes, and an inability of TAZ-deficient CMs to properly initiate stress-induced mitophagy. In TAZ-deficient NPCs we identified novel phenotypes including a reduction in CIV abundance and CIV activity in the CIII2&amp;CIV2 intermediate complex. Interestingly, while CL acyl chain manipulation was unable to alter mitophagy defects in TAZ-KO CMs, we found that linoleic acid or oleic acid supplementation was able to partially restore CIV abundance in TAZ-deficient NPCs. Taken together, our results have implications for understanding the tissue-specific pathology of BTHS and potential for tissue-specific therapeutic targeting. Moreover, our results highlight an emerging role for mitophagy in the cardiac pathophysiology of BTHS and reveal a potential neuron-specific bioenergetic phenotype.<\/jats:p>","DOI":"10.1093\/hmg\/ddae152","type":"journal-article","created":{"date-parts":[[2024,10,29]],"date-time":"2024-10-29T16:21:14Z","timestamp":1730218874000},"page":"101-115","source":"Crossref","is-referenced-by-count":9,"title":["Stem cell models of TAFAZZIN deficiency reveal novel tissue-specific pathologies in Barth syndrome"],"prefix":"10.1093","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6435-2852","authenticated-orcid":false,"given":"Olivia","family":"Sniezek Carney","sequence":"first","affiliation":[{"name":"Department of Genetic Medicine, Johns Hopkins University School of Medicine , 733 North Broadway, Baltimore, MD 21205 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kodi W","family":"Harris","sequence":"additional","affiliation":[{"name":"Department of Genetic Medicine, Johns Hopkins University School of Medicine , 733 North Broadway, Baltimore, MD 21205 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yvonne","family":"Wohlfarter","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Medical University of Innsbruck , Peter-Mayr-Str. 1\/1.OG, Innsbruck 6020 ,","place":["Austria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyuna","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Genetic Medicine, Johns Hopkins University School of Medicine , 733 North Broadway, Baltimore, MD 21205 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grant","family":"Butschek","sequence":"additional","affiliation":[{"name":"Department of Molecular Microbiology and Immunology, Johns Hopkins University Bloomberg School of Public Health , 615 North Wolfe Street, Baltimore, MD 21205 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arianna F","family":"Anzmann","sequence":"additional","affiliation":[{"name":"Department of Genetic Medicine, Johns Hopkins University School of Medicine , 733 North Broadway, Baltimore, MD 21205 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Hamacher-Brady","sequence":"additional","affiliation":[{"name":"Department of Molecular Microbiology and Immunology, Johns Hopkins University Bloomberg School of Public Health , 615 North Wolfe Street, Baltimore, MD 21205 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Markus A","family":"Keller","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Medical University of Innsbruck , Peter-Mayr-Str. 1\/1.OG, Innsbruck 6020 ,","place":["Austria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9940-9866","authenticated-orcid":false,"given":"Hilary J","family":"Vernon","sequence":"additional","affiliation":[{"name":"Department of Genetic Medicine, Johns Hopkins University School of Medicine , 733 North Broadway, Baltimore, MD 21205 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2024,11,13]]},"reference":[{"key":"2025012315421686300_ref1","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1002\/jimd.12422","article-title":"Clinical presentation and natural history of Barth syndrome: an overview","volume":"45","author":"Taylor","year":"2022","journal-title":"J Inherit Metab Dis"},{"key":"2025012315421686300_ref2","volume-title":"Barth 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