{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,11]],"date-time":"2026-10-11T15:57:13Z","timestamp":1791734233162,"version":"4.3.4"},"reference-count":46,"publisher":"eLife Sciences Publications, Ltd","license":[{"start":{"date-parts":[[2020,10,19]],"date-time":"2020-10-19T00:00:00Z","timestamp":1603065600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2020,10,19]],"date-time":"2020-10-19T00:00:00Z","timestamp":1603065600000},"content-version":"am","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2020,10,19]],"date-time":"2020-10-19T00:00:00Z","timestamp":1603065600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R35HL135736"],"award-info":[{"award-number":["R35HL135736"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R41NS113642"],"award-info":[{"award-number":["R41NS113642"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R41NS115184"],"award-info":[{"award-number":["R41NS115184"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005202","name":"Muscular Dystrophy Association","doi-asserted-by":"publisher","award":["628906"],"award-info":[{"award-number":["628906"]}],"id":[{"id":"10.13039\/100005202","id-type":"DOI","asserted-by":"publisher"}]},{"name":"McDonnell Center for Cellular and Molecular","award":["Neurobiology Postdoctoral Fellowship"],"award-info":[{"award-number":["Neurobiology Postdoctoral Fellowship"]}]},{"name":"Harrington Discovery Institute","award":["Scholar-Innovator awardee"],"award-info":[{"award-number":["Scholar-Innovator awardee"]}]}],"content-domain":{"domain":["elifesciences.org"],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:p>\n                    Charcot\u2013Marie-Tooth disease type 2A (CMT2A) is an untreatable childhood peripheral neuropathy caused by mutations of the mitochondrial fusion protein, mitofusin (MFN) 2. Here, pharmacological activation of endogenous normal mitofusins overcame dominant inhibitory effects of CMT2A mutants in reprogrammed human patient motor neurons, reversing hallmark mitochondrial stasis and fragmentation independent of causal\n                    <jats:italic>MFN2<\/jats:italic>\n                    mutation. In mice expressing human\n                    <jats:italic>MFN2<\/jats:italic>\n                    T105M, intermittent mitofusin activation with a small molecule, MiM111, normalized CMT2A neuromuscular dysfunction, reversed pre-treatment axon and skeletal myocyte atrophy, and enhanced axon regrowth by increasing mitochondrial transport within peripheral axons and promoting in vivo mitochondrial localization to neuromuscular junctional synapses. MiM111-treated\n                    <jats:italic>MFN2<\/jats:italic>\n                    T105M mouse neurons exhibited accelerated primary outgrowth and greater post-axotomy regrowth, linked to enhanced mitochondrial motility. MiM111 is the first pre-clinical candidate for CMT2A.\n                  <\/jats:p>","DOI":"10.7554\/elife.61119","type":"journal-article","created":{"date-parts":[[2020,10,19]],"date-time":"2020-10-19T08:33:51Z","timestamp":1603096431000},"update-policy":"https:\/\/doi.org\/10.7554\/elife.61119","source":"Crossref","is-referenced-by-count":61,"title":["Burst mitofusin activation reverses neuromuscular dysfunction in murine CMT2A"],"prefix":"10.7554","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5487-1800","authenticated-orcid":true,"given":"Antonietta","family":"Franco","sequence":"first","affiliation":[{"name":"Department of Internal Medicine, Pharmacogenomics, Washington University School of Medicine, St Louis, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0343-7107","authenticated-orcid":true,"given":"Xiawei","family":"Dang","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Pharmacogenomics, Washington University School of Medicine, St Louis, United States"},{"name":"Department of Cardiology, The First Affiliated Hospital of Xi\u2019an Jiao Tong University, Xi\u2019an, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily K","family":"Walton","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Pharmacogenomics, Washington University School of Medicine, St Louis, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joshua N","family":"Ho","sequence":"additional","affiliation":[{"name":"Department of Developmental Biology, Washington University School of Medicine, St Louis, United States"},{"name":"Center for Regenerative Medicine, Washington University School of Medicine, St. Louis, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Zablocka","sequence":"additional","affiliation":[{"name":"Mossakowski Medical Research 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