{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,10]],"date-time":"2026-03-10T05:34:59Z","timestamp":1773120899734,"version":"3.50.1"},"reference-count":9,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2026,1,19]],"date-time":"2026-01-19T00:00:00Z","timestamp":1768780800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,1,19]],"date-time":"2026-01-19T00:00:00Z","timestamp":1768780800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["febs.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["FEBS Letters"],"published-print":{"date-parts":[[2026,3]]},"abstract":"\n COL4A1\/A2 disorders are rare, congenital, multisystem disorders caused by mutations in the\n COL4\u03911<\/jats:italic>\n or\n COL4\u03912<\/jats:italic>\n genes, which encode \u03b1 chains of collagen IV. There are no curative treatments at present, and intervention is focused on managing the symptoms. Associazione Famiglie COL4A1\/A2 was established in 2021 to provide support for patients and their families, and to promote research into the basic mechanisms of the disorders. As part of\n FEBS Letters<\/jats:italic>\n 's series on patient advocacy for rare disorders, we interviewed Francesca Manodoro, Vice\u2010President and Treasurer of Associazione Famiglie COL4A1\u2010A2, Tom Van Agtmael, Professor of Matrix Biology and Disease at the University of Glasgow, and Simona Balestrini, Associate Professor of Child Neurology at the University of Florence, on the history of the organisation, ongoing research into these conditions, and the challenges in securing funding for research and translating basic research findings into the clinic.\n <\/jats:p>","DOI":"10.1002\/1873-3468.70259","type":"journal-article","created":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T06:48:17Z","timestamp":1768891697000},"page":"553-561","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Associazione Famiglie\n COL<\/scp>\n 4\n A<\/scp>\n 1\/\n A<\/scp>\n 2\u2014advocating to improve the lives of patients with collagen\n IV<\/scp>\n disorders"],"prefix":"10.1002","volume":"600","author":[{"given":"Simona","family":"Balestrini","sequence":"first","affiliation":[{"name":"Neuroscience and Human Genetics Department Meyer Children's Hospital IRCCS Florence Italy"},{"name":"Department of Neuroscience, Pharmacology and Child Health University of Florence Italy"},{"name":"Research Department of Epilepsy UCL Queen Square Institute of Neurology London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Manodoro","sequence":"additional","affiliation":[{"name":"Associazione Famiglie COL4A1\/A2 Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tom","family":"Van Agtmael","sequence":"additional","affiliation":[{"name":"School of Cardiovascular and Metabolic Health University of Glasgow UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-7874-2422","authenticated-orcid":false,"given":"Duncan E.","family":"Wright","sequence":"additional","affiliation":[{"name":"FEBS Letters Editorial Office Cambridge UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,1,19]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.matbio.2025.07.002"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41581-025-00982-x"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1042\/EBC20180071"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi348"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2025.101514"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.32099"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000006567"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.matbio.2025.09.003"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ebiom.2024.105315"}],"container-title":["FEBS Letters"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/febs.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/1873-3468.70259","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/febs.onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/1873-3468.70259","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/febs.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/1873-3468.70259","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T17:11:39Z","timestamp":1773076299000},"score":1,"resource":{"primary":{"URL":"https:\/\/febs.onlinelibrary.wiley.com\/doi\/10.1002\/1873-3468.70259"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,19]]},"references-count":9,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2026,3]]}},"alternative-id":["10.1002\/1873-3468.70259"],"URL":"https:\/\/doi.org\/10.1002\/1873-3468.70259","archive":["Portico"],"relation":{},"ISSN":["0014-5793","1873-3468"],"issn-type":[{"value":"0014-5793","type":"print"},{"value":"1873-3468","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1,19]]},"assertion":[{"value":"2025-12-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-12-17","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-01-19","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}