{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T11:51:43Z","timestamp":1791805903955,"version":"4.3.4"},"reference-count":40,"publisher":"Frontiers Media SA","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:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurosci."],"abstract":"<jats:p>Pathogenic variants in the <jats:italic>ATAD3<\/jats:italic> gene cluster have been associated with different neurodevelopmental disorders showing clinical symptoms like global developmental delay, muscular hypotonia, cardiomyopathy, congenital cataracts, and cerebellar atrophy. <jats:italic>ATAD3A<\/jats:italic> encodes for a mitochondrial ATPase whose function is unclear and has been considered one of the five most common nuclear genes associated with mitochondrial diseases in childhood. However, the mechanism causing <jats:italic>ATAD3-<\/jats:italic>associated disorders is still unknown. <jats:italic>In vivo<\/jats:italic> models have been used to identify <jats:italic>ATAD3<\/jats:italic> function. Here we summarize the features of mouse models with <jats:italic>ATAD3<\/jats:italic> loss of function and <jats:italic>Drosophila<\/jats:italic> models overexpressing pathogenic <jats:italic>ATAD3<\/jats:italic> variants. We discuss how these models have contributed to our understanding of <jats:italic>ATAD3<\/jats:italic> function and the pathomechanism of the <jats:italic>ATAD3-<\/jats:italic>associated disease.<\/jats:p>","DOI":"10.3389\/fnins.2024.1496142","type":"journal-article","created":{"date-parts":[[2024,11,13]],"date-time":"2024-11-13T11:44:00Z","timestamp":1731498240000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":5,"title":["Mutations in mitochondrial ATAD3 gene and disease, lessons from in vivo models"],"prefix":"10.3389","volume":"18","author":[{"given":"Marcel","family":"Br\u00fcgel","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ann-Sophie","family":"Kiesel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tobias B.","family":"Haack","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susana","family":"Peralta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2024,11,13]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"79","DOI":"10.2147\/TACG.S194204","article-title":"Ketogenic diet attenuates cerebellar atrophy progression in a subject with a biallelic variant at the Atad3A locus","volume":"12","author":"Al Madhoun","year":"2019","journal-title":"Appl. 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