{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T15:46:26Z","timestamp":1790696786790,"version":"4.1.0"},"reference-count":73,"publisher":"The Company of Biologists","issue":"5","license":[{"start":{"date-parts":[[2022,10,26]],"date-time":"2022-10-26T00:00:00Z","timestamp":1666742400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Hamilton and Finneran Families"},{"DOI":"10.13039\/100002108","name":"Friedreich's Ataxia Research Alliance","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100002108","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100006458","name":"Children's Hospital of Philadelphia","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100006458","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,5,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Friedreich ataxia, the most common hereditary ataxia, is a neuro- and cardio-degenerative disorder caused, in most cases, by decreased expression of the mitochondrial protein frataxin. Cardiomyopathy is the leading cause of premature death. Frataxin functions in the biogenesis of iron-sulfur clusters, which are prosthetic groups that are found in proteins involved in many biological processes. To study the changes associated with decreased frataxin in human cardiomyocytes, we developed a novel isogenic model by acutely knocking down frataxin, post-differentiation, in cardiomyocytes derived from induced pluripotent stem cells (iPSCs). Transcriptome analysis of four biological replicates identified severe mitochondrial dysfunction and a type I interferon response as the pathways most affected by frataxin knockdown. We confirmed that, in iPSC-derived cardiomyocytes, loss of frataxin leads to mitochondrial dysfunction. The type I interferon response was activated in multiple cell types following acute frataxin knockdown and was caused, at least in part, by release of mitochondrial DNA into the cytosol, activating the cGAS-STING sensor pathway.<\/jats:p>","DOI":"10.1242\/dmm.049497","type":"journal-article","created":{"date-parts":[[2022,9,15]],"date-time":"2022-09-15T13:28:09Z","timestamp":1663248489000},"source":"Crossref","is-referenced-by-count":20,"title":["Acute frataxin knockdown in induced pluripotent stem cell-derived cardiomyocytes activates a type I interferon response"],"prefix":"10.1242","volume":"16","author":[{"given":"M. Grazia","family":"Cotticelli","sequence":"first","affiliation":[{"name":"Children's Hospital of Philadelphia 1 Department of Pathology and Laboratory Medicine , , Philadelphia, PA 19104 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shujuan","family":"Xia","sequence":"additional","affiliation":[{"name":"Children's Hospital of Philadelphia 1 Department of Pathology and Laboratory Medicine , , Philadelphia, PA 19104 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Truitt","sequence":"additional","affiliation":[{"name":"University of Pennsylvania 2 Department of Medicine, Division of Translational Medicine and Human Genetics , , Philadelphia, PA 19104 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolai M.","family":"Doliba","sequence":"additional","affiliation":[{"name":"Institute of Diabetes, Obesity, and Metabolism, University of Pennsylvania 3 , Philadelphia, PA 19104 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea V.","family":"Rozo","sequence":"additional","affiliation":[{"name":"Institute of Diabetes, Obesity, and Metabolism, University of Pennsylvania 3 , Philadelphia, PA 19104 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John W.","family":"Tobias","sequence":"additional","affiliation":[{"name":"University of Pennsylvania 4 Department of Genetics, Penn Genomics Analysis Core , , Philadelphia, PA 19104 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taehee","family":"Lee","sequence":"additional","affiliation":[{"name":"Children's Hospital of Philadelphia 1 Department of Pathology and Laboratory Medicine , , Philadelphia, PA 19104 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7210-3063","authenticated-orcid":false,"given":"Justin","family":"Chen","sequence":"additional","affiliation":[{"name":"Children's Hospital of Philadelphia 1 Department of Pathology and Laboratory Medicine , , Philadelphia, PA 19104 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill S.","family":"Napierala","sequence":"additional","affiliation":[{"name":"UT Southwestern Medical Center 5 Department of Neurology , , Dallas, TX 75390 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marek","family":"Napierala","sequence":"additional","affiliation":[{"name":"UT Southwestern Medical Center 5 Department of Neurology , , Dallas, TX 75390 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenli","family":"Yang","sequence":"additional","affiliation":[{"name":"University of Pennsylvania 2 Department of Medicine, Division of Translational Medicine and Human Genetics , , Philadelphia, PA 19104 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6059-9762","authenticated-orcid":false,"given":"Robert B.","family":"Wilson","sequence":"additional","affiliation":[{"name":"Children's Hospital of Philadelphia 1 Department of Pathology and Laboratory Medicine , , Philadelphia, PA 19104 , USA"},{"name":"University of Pennsylvania 6 Department of Pathology and Laboratory Medicine , , Philadelphia, PA 19104 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"237","published-online":{"date-parts":[[2022,10,26]]},"reference":[{"key":"2022110413321831800_DMM049497C1","doi-asserted-by":"publisher","first-page":"264","DOI":"10.3389\/fncel.2018.00264","article-title":"Calcium deregulation: novel insights to understand Friedreich's ataxia pathophysiology","volume":"12","author":"Abeti","year":"2018","journal-title":"Front. 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