{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:47:26Z","timestamp":1760147246534,"version":"build-2065373602"},"reference-count":22,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2023,1,17]],"date-time":"2023-01-17T00:00:00Z","timestamp":1673913600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003554","name":"Lundbeck Foundation","doi-asserted-by":"publisher","award":["R100-2011-9332"],"award-info":[{"award-number":["R100-2011-9332"]}],"id":[{"id":"10.13039\/501100003554","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Nordea-fonden","award":["R100-2011-9332"],"award-info":[{"award-number":["R100-2011-9332"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>FOXG1 (Forkhead box g1) syndrome is a neurodevelopmental disorder caused by a defective transcription factor, FOXG1, important for normal brain development and function. As FOXG1 syndrome and mitochondrial disorders have shared symptoms and FOXG1 regulates mitochondrial function, we investigated whether defective FOXG1 leads to mitochondrial dysfunction in five individuals with FOXG1 variants compared to controls (n = 6). We observed a significant decrease in mitochondrial content and adenosine triphosphate (ATP) levels and morphological changes in mitochondrial network in the fibroblasts of affected individuals, indicating involvement of mitochondrial dysfunction in FOXG1 syndrome pathogenesis. Further investigations are warranted to elucidate how FOXG1 deficiency impairs mitochondrial homeostasis.<\/jats:p>","DOI":"10.3390\/genes14020246","type":"journal-article","created":{"date-parts":[[2023,1,18]],"date-time":"2023-01-18T01:57:57Z","timestamp":1674007077000},"page":"246","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Involvement of Mitochondrial Dysfunction in FOXG1 Syndrome"],"prefix":"10.3390","volume":"14","author":[{"given":"Victoria A.","family":"Bjerregaard","sequence":"first","affiliation":[{"name":"Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, 2600 Glostrup, Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7863-4300","authenticated-orcid":false,"given":"Amanda M.","family":"Levy","sequence":"additional","affiliation":[{"name":"Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, 2600 Glostrup, Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mille S.","family":"Batz","sequence":"additional","affiliation":[{"name":"Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, 2600 Glostrup, Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ravina","family":"Salehi","sequence":"additional","affiliation":[{"name":"Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, 2600 Glostrup, Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2016-3670","authenticated-orcid":false,"given":"Mathis","family":"Hildonen","sequence":"additional","affiliation":[{"name":"Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, 2600 Glostrup, Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Trine B.","family":"Hammer","sequence":"additional","affiliation":[{"name":"Danish Epilepsy Centre, Department of Epilepsy Genetics and Personalized Medicine, 4293 Dianalund, Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rikke S.","family":"M\u00f8ller","sequence":"additional","affiliation":[{"name":"Danish Epilepsy Centre, Department of Epilepsy Genetics and Personalized Medicine, 4293 Dianalund, Denmark"},{"name":"Department of Regional Health Research, University of Southern Denmark, 5230 Odense, Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claus","family":"Desler","sequence":"additional","affiliation":[{"name":"Department of Cellular and Molecular Medicine, Center for Healthy Aging, University of Copenhagen, 2200 Copenhagen, Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4777-5802","authenticated-orcid":false,"given":"Zeynep","family":"T\u00fcmer","sequence":"additional","affiliation":[{"name":"Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, 2600 Glostrup, Denmark"},{"name":"Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, 2200 Copenhagen, Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,1,17]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Wong, L.C., Singh, S., Wang, H.P., Hsu, C.J., Hu, S.C., and Lee, W.T. 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