{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,4]],"date-time":"2025-11-04T23:21:53Z","timestamp":1762298513067},"reference-count":33,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2017,3,21]],"date-time":"2017-03-21T00:00:00Z","timestamp":1490054400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2017,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>c.250G&gt;A (p.Ala84Thr) in <jats:italic>ETFDH<\/jats:italic> is the most common mutation that causes later\u2010onset multiple acyl\u2010coenzyme A dehydrogenase deficiency (MADD) in the southern Chinese population. No functional study has targeted this mutation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Using cells expressing <jats:italic>ETFDH<\/jats:italic>\u2010wild\u2010type (WT) or <jats:italic>ETFDH<\/jats:italic>\u2010mutant (p.Ala84Thr), reactive oxygen species (ROS) production and neurite length were analyzed, followed by pathomechanism exploration and drug screening.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Increased ROS production and marked neurite shortening were observed in the cells expressing the <jats:italic>ETFDH<\/jats:italic>\u2010mutant, compared with WT. Further studies demonstrated that suberic acid, an accumulated intermediate metabolite in MADD, could significantly impair neurite outgrowth of NSC34 cells, but neurite shortening could be restored by supplementation with carnitine, riboflavin, or Coenzyme Q10.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Neurite shortening caused by the c.250G&gt;A mutation in <jats:italic>ETFDH<\/jats:italic> suggests that neural defects could be underdiagnosed in human patients with MADD. This impairment might be treatable with mitochondrial cofactor supplementation. <jats:italic>Muscle Nerve<\/jats:italic> <jats:bold>56<\/jats:bold>: 479\u2013485, 2017<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.25501","type":"journal-article","created":{"date-parts":[[2016,12,9]],"date-time":"2016-12-09T10:35:17Z","timestamp":1481279717000},"page":"479-485","source":"Crossref","is-referenced-by-count":11,"title":["Neurite growth could be impaired by <i>ETFDH<\/i> mutation but restored by mitochondrial cofactors"],"prefix":"10.1002","volume":"56","author":[{"given":"Wen\u2010Chen","family":"Liang","sequence":"first","affiliation":[{"name":"Department of Pediatrics Kaohsiung Medical University Hospital, Kaohsiung Medical University Kaohsiung Taiwan"},{"name":"Department of Pediatrics, School of Medicine, College of Medicine Kaohsiung Medical University Kaohsiung 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