{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T19:13:22Z","timestamp":1760987602604,"version":"3.41.2"},"reference-count":22,"publisher":"Oxford University Press (OUP)","issue":"14","license":[{"start":{"date-parts":[[2025,4,17]],"date-time":"2025-04-17T00:00:00Z","timestamp":1744848000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"name":"Taishan Scholars Program for Young Experts of Shandong Province","award":["tsqn202306347"],"award-info":[{"award-number":["tsqn202306347"]}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82471395"],"award-info":[{"award-number":["82471395"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,7,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Myofibrillar myopathy type 5 (MFM5) is a dominantly inherited myopathy caused by mutations in the FLNC gene. The underlying pathogenic mechanisms of MFM5 remain unclear, and there are currently no effective treatments available. This study hypothesizes that mitochondrial dysfunction plays a key role in the pathogenesis of MFM5, on the basis of the COX-negative fibres observed in MFM5 patients. To test this hypothesis, a zebrafish model was developed to explore the impact of filamin-C on mitochondrial dynamics. These results demonstrated that defects in filamin-C disrupt mitochondrial fission, leading to mitochondrial dysfunction and mitophagy. This hypothesis was further validated through the analysis of skeletal muscle samples from MFM5 patients. These findings suggest that mitochondrial dysfunction caused by imbalanced fission and fusion of mitochondria and mitophagy contributes to MFM5 pathology. Importantly, this study identified potential therapeutic targets for MFM5 treatment, opening avenues for future research aimed at developing targeted interventions.<\/jats:p>","DOI":"10.1093\/hmg\/ddaf051","type":"journal-article","created":{"date-parts":[[2025,4,17]],"date-time":"2025-04-17T15:01:19Z","timestamp":1744902079000},"page":"1173-1183","source":"Crossref","is-referenced-by-count":1,"title":["Mitochondrial dysfunction is driven by imbalanced fission and fusion of mitochondria in myofibrillar myopathy type 5"],"prefix":"10.1093","volume":"34","author":[{"given":"Wenjing","family":"Wu","sequence":"first","affiliation":[{"name":"Department of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Diseases, Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University , Wenhua Xi Road 107, Jinan, Shandong 250012 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoqing","family":"Lv","sequence":"additional","affiliation":[{"name":"Department of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Diseases, Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University , Wenhua Xi Road 107, Jinan, Shandong 250012 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yifei","family":"Feng","sequence":"additional","affiliation":[{"name":"Department of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Diseases, Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University , Wenhua Xi Road 107, Jinan, Shandong 250012 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mengqi","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Diseases, Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University , Wenhua Xi Road 107, Jinan, Shandong 250012 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guiguan","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Diseases, Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University , Wenhua Xi Road 107, Jinan, Shandong 250012 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dandan","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Diseases, Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University , Wenhua Xi Road 107, Jinan, Shandong 250012 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chuanzhu","family":"Yan","sequence":"additional","affiliation":[{"name":"Department of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Diseases, Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University , Wenhua Xi Road 107, Jinan, Shandong 250012 ,","place":["China"]},{"name":"Department of Neurology, Qilu Hospital (Qingdao), Cheeloo College of Medicine, Shandong University , 758 Hefei Road, Qingdao 266000 ,","place":["China"]},{"name":"Mitochondrial Medicine Laboratory, Qilu Hospital (Qingdao), Cheeloo College of Medicine, Shandong University , 758 Hefei Road, Qingdao, Shandong 266035 ,","place":["China"]},{"name":"Brain Science Research Institute, Shandong University , Wenhua Xi Road 44, Jinan, Shandong 250000 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pengfei","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Neurology, Shandong Key Laboratory of Mitochondrial Medicine and Rare Diseases, Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University , Wenhua Xi Road 107, Jinan, Shandong 250012 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2025,4,17]]},"reference":[{"key":"2025070506511947000_ref1","doi-asserted-by":"crossref","first-page":"2131","DOI":"10.1093\/hmg\/ddw080","article-title":"FLNC myofibrillar myopathy results from impaired autophagy and protein insufficiency","volume":"25","author":"Ruparelia","year":"2016","journal-title":"Hum Mol Genet"},{"key":"2025070506511947000_ref2","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1212\/NXG.0000000000000590","article-title":"FLNC-associated 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