{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T04:00:24Z","timestamp":1782792024817,"version":"3.54.5"},"reference-count":120,"publisher":"Portland Press Ltd.","issue":"3","content-domain":{"domain":["portlandpress.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2023,12,14]]},"abstract":"<jats:p>Friedreich ataxia (FRDA) is an inherited disease that is typically caused by GAA repeat expansion within the first intron of the FXN gene coding for frataxin. This results in the frataxin deficiency that affects mostly muscle, nervous, and cardiovascular systems with progressive worsening of the symptoms over the years. This review summarizes recent progress that was achieved in understanding of molecular mechanism of the disease over the last few years and latest treatment strategies focused on overcoming the frataxin deficiency.<\/jats:p>","DOI":"10.1042\/etls20230017","type":"journal-article","created":{"date-parts":[[2023,9,12]],"date-time":"2023-09-12T10:04:59Z","timestamp":1694513099000},"page":"313-323","update-policy":"https:\/\/doi.org\/10.1042\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Friedreich's ataxia: new insights"],"prefix":"10.1042","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-9650-7151","authenticated-orcid":false,"given":"Maria M.","family":"Krasilnikova","sequence":"additional","affiliation":[{"name":"Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, Pennsylvania, U.S.A."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Casey L.","family":"Humphries","sequence":"additional","affiliation":[{"name":"Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, Pennsylvania, U.S.A."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily M.","family":"Shinsky","sequence":"additional","affiliation":[{"name":"Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, Pennsylvania, U.S.A."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"288","published-online":{"date-parts":[[2023,9,12]]},"reference":[{"key":"2023121411240852400_ETLS-2023-0017CC1","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1038\/334248a0","article-title":"Mapping of mutation causing Friedreich's ataxia to human chromosome 9","volume":"334","year":"1988","journal-title":"Nature"},{"key":"2023121411240852400_ETLS-2023-0017CC2","doi-asserted-by":"publisher","first-page":"1423","DOI":"10.1126\/science.271.5254.1423","article-title":"Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion","volume":"271","year":"1996","journal-title":"Science"},{"key":"2023121411240852400_ETLS-2023-0017CC3","first-page":"393","volume-title":"Macromolecular Protein Complexes II: Structure and Function","author":"Harris","year":"2019"},{"key":"2023121411240852400_ETLS-2023-0017CC4","doi-asserted-by":"publisher","first-page":"673","DOI":"10.1002\/1531-8249(199905)45:5&lt;673::AID-ANA20&gt;3.0.CO;2-Q","article-title":"Direct evidence that mitochondrial iron accumulation occurs in Friedreich ataxia","volume":"45","year":"1999","journal-title":"Ann. 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