{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T05:28:14Z","timestamp":1790832494903,"version":"4.1.0"},"reference-count":129,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2024,6,15]],"date-time":"2024-06-15T00:00:00Z","timestamp":1718409600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Friedreich\u2019s Ataxia Research Alliance"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>Friedreich\u2019s ataxia (FRDA) is a progressive neurodegenerative disease caused in almost all patients by expanded guanine\u2013adenine\u2013adenine (GAA) trinucleotide repeats within intron 1 of the FXN gene. This results in a relative deficiency of frataxin, a small nucleus-encoded mitochondrial protein crucial for iron\u2013sulfur cluster biogenesis. Currently, there is only one medication, omaveloxolone, available for FRDA patients, and it is limited to patients 16 years of age and older. This necessitates the development of new medications. Frataxin restoration is one of the main strategies in potential treatment options as it addresses the root cause of the disease. Comprehending the control of frataxin at the transcriptional, post-transcriptional, and post-translational stages could offer potential therapeutic approaches for addressing the illness. This review aims to provide a general overview of the regulation of frataxin and its implications for a possible therapeutic treatment of FRDA.<\/jats:p>","DOI":"10.3390\/cells13121040","type":"journal-article","created":{"date-parts":[[2024,6,17]],"date-time":"2024-06-17T04:48:12Z","timestamp":1718599692000},"page":"1040","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["The Regulation of the Disease-Causing Gene FXN"],"prefix":"10.3390","volume":"13","author":[{"given":"Yi Na","family":"Dong","sequence":"first","affiliation":[{"name":"Departments of Pediatrics and Neurology, The Children\u2019s Hospital of Philadelphia, Philadelphia, PA 19104, USA"},{"name":"Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Mercado-Ay\u00f3n","sequence":"additional","affiliation":[{"name":"Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Coulman","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Neurology, The Children\u2019s Hospital of Philadelphia, Philadelphia, PA 19104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-7556-5177","authenticated-orcid":false,"given":"Liam","family":"Flatley","sequence":"additional","affiliation":[{"name":"The Wharton School, University of Pennsylvania, Philadelphia, PA 19104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucie Vanessa","family":"Ngaba","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Neurology, The Children\u2019s Hospital of Philadelphia, Philadelphia, PA 19104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miniat W.","family":"Adeshina","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Neurology, The Children\u2019s Hospital of Philadelphia, Philadelphia, PA 19104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David R.","family":"Lynch","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Neurology, The Children\u2019s Hospital of Philadelphia, Philadelphia, PA 19104, USA"},{"name":"Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,6,15]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1080\/14737175.2017.1356721","article-title":"Pharmacological therapeutics in Friedreich ataxia: The present state","volume":"17","author":"Strawser","year":"2017","journal-title":"Expert. 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