{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,7]],"date-time":"2026-04-07T17:48:51Z","timestamp":1775584131285,"version":"3.50.1"},"reference-count":82,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2022,3,24]],"date-time":"2022-03-24T00:00:00Z","timestamp":1648080000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"association pour la recherche et le d\u00e9veloppement de moyens de luttes contre les maladies neurod\u00e9g\u00e9n\u00e9ratives","award":["N\/A"],"award-info":[{"award-number":["N\/A"]}]},{"name":"Andr\u00e9 combat la SLA","award":["N\/A"],"award-info":[{"award-number":["N\/A"]}]},{"DOI":"10.13039\/501100013413","name":"R\u00e9gion Alsace","doi-asserted-by":"publisher","award":["N\/A"],"award-info":[{"award-number":["N\/A"]}],"id":[{"id":"10.13039\/501100013413","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Biomolecules"],"abstract":"<jats:p>CHMP2B is a protein that coordinates membrane scission events as a core component of the ESCRT machinery. Mutations in CHMP2B are an uncommon cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), two neurodegenerative diseases with clinical, genetic, and pathological overlap. Different mutations have now been identified across the ALS-FTD spectrum. Disruption of the neuromuscular junction is an early pathogenic event in ALS. Currently, the links between neuromuscular junction functionality and ALS-associated genes, such as CHMP2B, remain poorly understood. We have previously shown that CHMP2B transgenic mice expressing the CHMP2Bintron5 mutant specifically in neurons develop a progressive motor phenotype reminiscent of ALS. In this study, we used complementary approaches (behavior, histology, electroneuromyography, and biochemistry) to determine the extent to which neuron-specific expression of CHMP2Bintron5 could impact the skeletal muscle characteristics. We show that neuronal expression of the CHMP2Bintron5 mutant is sufficient to trigger progressive gait impairment associated with structural and functional changes in the neuromuscular junction. Indeed, CHMP2Bintron5 alters the pre-synaptic terminal organization and the synaptic transmission that ultimately lead to a switch of fast-twitch glycolytic muscle fibers to more oxidative slow-twitch muscle fibers. Taken together these data indicate that neuronal expression of CHMP2Bintron5 is sufficient to induce a synaptopathy with molecular and functional changes in the motor unit reminiscent of those found in ALS patients.<\/jats:p>","DOI":"10.3390\/biom12040497","type":"journal-article","created":{"date-parts":[[2022,3,25]],"date-time":"2022-03-25T00:05:18Z","timestamp":1648166718000},"page":"497","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Alteration of the Neuromuscular Junction and Modifications of Muscle Metabolism in Response to Neuron-Restricted Expression of the CHMP2Bintron5 Mutant in a Mouse Model of ALS-FTD Syndrome"],"prefix":"10.3390","volume":"12","author":[{"given":"Robin","family":"Waegaert","sequence":"first","affiliation":[{"name":"INSERM U1118 M\u00e9canismes Centraux et P\u00e9riph\u00e9riques de la Neurod\u00e9g\u00e9n\u00e9rescence, Centre de Recherche en Biom\u00e9decine de Strasbourg, Universit\u00e9 de Strasbourg, 67000 Strasbourg, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sylvie","family":"Dirrig-Grosch","sequence":"additional","affiliation":[{"name":"INSERM U1118 M\u00e9canismes Centraux et P\u00e9riph\u00e9riques de la Neurod\u00e9g\u00e9n\u00e9rescence, Centre de Recherche en Biom\u00e9decine de Strasbourg, Universit\u00e9 de Strasbourg, 67000 Strasbourg, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haoyi","family":"Liu","sequence":"additional","affiliation":[{"name":"INSERM U1118 M\u00e9canismes Centraux et P\u00e9riph\u00e9riques de la Neurod\u00e9g\u00e9n\u00e9rescence, Centre de Recherche en Biom\u00e9decine de Strasbourg, Universit\u00e9 de Strasbourg, 67000 Strasbourg, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marion","family":"Boutry","sequence":"additional","affiliation":[{"name":"INSERM U1118 M\u00e9canismes Centraux et P\u00e9riph\u00e9riques de la Neurod\u00e9g\u00e9n\u00e9rescence, Centre de Recherche en Biom\u00e9decine de Strasbourg, Universit\u00e9 de Strasbourg, 67000 Strasbourg, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ping","family":"Luan","sequence":"additional","affiliation":[{"name":"Medical Center, Shenzhen University Health Science Center, Shenzhen 518060, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean-Philippe","family":"Loeffler","sequence":"additional","affiliation":[{"name":"INSERM U1118 M\u00e9canismes Centraux et P\u00e9riph\u00e9riques de la Neurod\u00e9g\u00e9n\u00e9rescence, Centre de Recherche en Biom\u00e9decine de Strasbourg, Universit\u00e9 de Strasbourg, 67000 Strasbourg, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fr\u00e9d\u00e9rique","family":"Ren\u00e9","sequence":"additional","affiliation":[{"name":"INSERM U1118 M\u00e9canismes Centraux et P\u00e9riph\u00e9riques de la Neurod\u00e9g\u00e9n\u00e9rescence, Centre de Recherche en Biom\u00e9decine de Strasbourg, Universit\u00e9 de Strasbourg, 67000 Strasbourg, France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,3,24]]},"reference":[{"key":"ref_1","unstructured":"St\u00e5lberg, E. 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