{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T23:34:07Z","timestamp":1793057647032,"version":"4.5.0"},"reference-count":40,"publisher":"National Academy of Sciences","issue":"9","license":[{"start":{"date-parts":[[2022,2,25]],"date-time":"2022-02-25T00:00:00Z","timestamp":1645747200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["ANR-10-LABX-0030-INRT"],"award-info":[{"award-number":["ANR-10-LABX-0030-INRT"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["ANR-18-CE17-0006-02"],"award-info":[{"award-number":["ANR-18-CE17-0006-02"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["ANR-10-INBS-05"],"award-info":[{"award-number":["ANR-10-INBS-05"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2022,3]]},"abstract":"<jats:title>Significance<\/jats:title>\n                  <jats:p>Membrane remodeling and trafficking is essential for intracellular organization under normal conditions and can be altered in a plethora of diseases. Here we characterized the action of amphiphysin (BIN1) and dynamin (DNM2), two main regulators of membrane remodeling mutated in congenital myopathies. We found their interplay is necessary for membrane fission in\u00a0vitro and to maintain muscle homeostasis in\u00a0vivo. Moreover, increasing BIN1 expression was validated as a therapeutic approach to ameliorate both mild and severe forms of DNM2-associated myopathies in mice.<\/jats:p>","DOI":"10.1073\/pnas.2109576119","type":"journal-article","created":{"date-parts":[[2022,2,25]],"date-time":"2022-02-25T16:27:09Z","timestamp":1645806429000},"update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":30,"title":["BIN1 modulation in\u00a0vivo rescues dynamin-related myopathy"],"prefix":"10.1073","volume":"119","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5737-6821","authenticated-orcid":false,"given":"Valentina Maria","family":"Lionello","sequence":"first","affiliation":[{"name":"Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire, INSERM U1258, CNRS UMR 7104, Universit\u00e9 de Strasbourg, Illkirch, F-67404, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Kretz","sequence":"additional","affiliation":[{"name":"Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire, INSERM U1258, CNRS UMR 7104, Universit\u00e9 de Strasbourg, Illkirch, F-67404, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evelina","family":"Edelweiss","sequence":"additional","affiliation":[{"name":"Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire, INSERM U1258, CNRS UMR 7104, Universit\u00e9 de Strasbourg, Illkirch, F-67404, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corinne","family":"Crucifix","sequence":"additional","affiliation":[{"name":"Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire, INSERM U1258, CNRS UMR 7104, Universit\u00e9 de Strasbourg, Illkirch, F-67404, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8778-4175","authenticated-orcid":false,"given":"Raquel","family":"G\u00f3mez-Oca","sequence":"additional","affiliation":[{"name":"Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire, INSERM U1258, CNRS UMR 7104, Universit\u00e9 de Strasbourg, Illkirch, F-67404, France"},{"name":"Dynacure, Illkirch, F-67400, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8398-6415","authenticated-orcid":false,"given":"Nadia","family":"Messaddeq","sequence":"additional","affiliation":[{"name":"Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire, INSERM U1258, CNRS UMR 7104, Universit\u00e9 de Strasbourg, Illkirch, F-67404, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5694-2249","authenticated-orcid":false,"given":"Suzie","family":"Buono","sequence":"additional","affiliation":[{"name":"Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire, INSERM U1258, CNRS UMR 7104, Universit\u00e9 de Strasbourg, Illkirch, F-67404, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7574-1300","authenticated-orcid":false,"given":"Pascale","family":"Koebel","sequence":"additional","affiliation":[{"name":"Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire, INSERM U1258, CNRS UMR 7104, Universit\u00e9 de Strasbourg, Illkirch, F-67404, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"X\u00e8nia","family":"Massana Mu\u00f1oz","sequence":"additional","affiliation":[{"name":"Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire, INSERM U1258, CNRS UMR 7104, Universit\u00e9 de Strasbourg, Illkirch, F-67404, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nad\u00e8ge","family":"Diedhiou","sequence":"additional","affiliation":[{"name":"Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire, INSERM U1258, CNRS UMR 7104, Universit\u00e9 de Strasbourg, Illkirch, F-67404, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Belinda S.","family":"Cowling","sequence":"additional","affiliation":[{"name":"Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire, INSERM U1258, CNRS UMR 7104, Universit\u00e9 de Strasbourg, Illkirch, F-67404, France"},{"name":"Dynacure, Illkirch, F-67400, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"Bitoun","sequence":"additional","affiliation":[{"name":"Institute of Myology, Centre of Research in Myology, INSERM, UMRS 974, Sorbonne Universit\u00e9, F-75013, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8256-5862","authenticated-orcid":false,"given":"Jocelyn","family":"Laporte","sequence":"additional","affiliation":[{"name":"Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire, INSERM U1258, CNRS UMR 7104, Universit\u00e9 de Strasbourg, Illkirch, F-67404, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[2022,2,25]]},"reference":[{"key":"e_1_3_4_1_2","doi-asserted-by":"publisher","DOI":"10.15252\/embj.201694613"},{"key":"e_1_3_4_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1657"},{"key":"e_1_3_4_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrm3266"},{"key":"e_1_3_4_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.emboj.7600442"},{"key":"e_1_3_4_5_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1071362"},{"key":"e_1_3_4_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2014.02.017"},{"key":"e_1_3_4_7_2","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.26856"},{"key":"e_1_3_4_8_2","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-3-26"},{"key":"e_1_3_4_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2010.01.014"},{"key":"e_1_3_4_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng2086"},{"key":"e_1_3_4_11_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0696-175"},{"key":"e_1_3_4_12_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13052-017-0419-z"},{"key":"e_1_3_4_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22119"},{"key":"e_1_3_4_14_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2990.2010.01149.x"},{"key":"e_1_3_4_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2018.06.012"},{"key":"e_1_3_4_16_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22067"},{"key":"e_1_3_4_17_2","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.226"},{"key":"e_1_3_4_18_2","doi-asserted-by":"publisher","DOI":"10.1038\/emboj.2010.187"},{"key":"e_1_3_4_19_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.C110.130013"},{"key":"e_1_3_4_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajpath.2011.01.054"},{"key":"e_1_3_4_21_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI46267"},{"key":"e_1_3_4_22_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI90542"},{"key":"e_1_3_4_23_2","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.aav1866"},{"key":"e_1_3_4_24_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq413"},{"key":"e_1_3_4_25_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-018-38184-0"},{"key":"e_1_3_4_26_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-010-0754-2"},{"key":"e_1_3_4_27_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81207-6"},{"key":"e_1_3_4_28_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0009014"},{"key":"e_1_3_4_29_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-019-12434-9"},{"key":"e_1_3_4_30_2","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms6647"},{"key":"e_1_3_4_31_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv285"},{"key":"e_1_3_4_32_2","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.30246"},{"key":"e_1_3_4_33_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M113.490474"},{"key":"e_1_3_4_34_2","first-page":"4067","article-title":"Different in\u00a0vivo impact of Dynamin 2 mutations implicated in Charcot-Marie-Tooth neuropathy or Centronuclear Myopathy","volume":"28","author":"Mu\u00f1oz X. M.","year":"2019","unstructured":"X. M. Mu\u00f1oz, S. Buono, P. Koebel, J. Laporte, B. S. Cowling, Different in\u00a0vivo impact of Dynamin 2 mutations implicated in Charcot-Marie-Tooth neuropathy or Centronuclear Myopathy. Hum. Mol. Genet. 28, 4067\u20134077 (2019).","journal-title":"Hum. Mol. Genet."},{"key":"e_1_3_4_35_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddz260"},{"key":"e_1_3_4_36_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1341"},{"key":"e_1_3_4_37_2","doi-asserted-by":"publisher","DOI":"10.1186\/s12883-015-0481-3"},{"key":"e_1_3_4_38_2","doi-asserted-by":"publisher","DOI":"10.3892\/ol.2016.4993"},{"key":"e_1_3_4_39_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0076-6879(05)04049-8"},{"key":"e_1_3_4_40_2","doi-asserted-by":"publisher","DOI":"10.1016\/bs.mcb.2015.02.007"}],"container-title":["Proceedings of the National Academy of Sciences"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.pnas.org\/syndication\/doi\/10.1073\/pnas.2109576119","content-type":"unspecified","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/pnas.org\/doi\/pdf\/10.1073\/pnas.2109576119","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,13]],"date-time":"2022-04-13T07:48:26Z","timestamp":1649836106000},"score":1,"resource":{"primary":{"URL":"https:\/\/pnas.org\/doi\/full\/10.1073\/pnas.2109576119"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,2,25]]},"references-count":40,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2022,3]]}},"alternative-id":["10.1073\/pnas.2109576119"],"URL":"https:\/\/doi.org\/10.1073\/pnas.2109576119","relation":{},"ISSN":["0027-8424","1091-6490"],"issn-type":[{"value":"0027-8424","type":"print"},{"value":"1091-6490","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,2,25]]},"assertion":[{"value":"2021-05-25","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-01-18","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-02-25","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e2109576119"}}