{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T17:01:28Z","timestamp":1791392488271,"version":"4.3.3"},"reference-count":61,"publisher":"The Royal Society","issue":"224","license":[{"start":{"date-parts":[[2025,3,1]],"date-time":"2025-03-01T00:00:00Z","timestamp":1740787200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/royalsociety.org\/-\/media\/journals\/author\/Licence-to-Publish-20062019-final.pdf"},{"start":{"date-parts":[[2025,3,1]],"date-time":"2025-03-01T00:00:00Z","timestamp":1740787200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/royalsociety.org\/journals\/ethics-policies\/data-sharing-mining\/"}],"funder":[{"name":"CERCA Programme \/ Generalitat de Catalunya"},{"name":"Department of Research and Universities of the Generalitat de Catalunya"},{"name":"Networking Biomedical Research Center"},{"name":"Spanish Ministry of Science and Innovation\/FEDER"},{"name":"Plan Complementario de Biotecnolog\u00eda aplicada a la Salud, Plan de Recuperaci\u00f3n, Transformaci\u00f3n y Resiliencia (C17.I1), European Comission NextGenerationEU"},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["royalsocietypublishing.org"],"crossmark-restriction":true},"short-container-title":["J. R. Soc. Interface."],"published-print":{"date-parts":[[2025,3]]},"abstract":"<jats:p>\n                    Changes in the mechanical properties of the extracellular matrix (ECM) are a hallmark of disease. Due to its relevance, several\n                    <jats:italic>in vitro<\/jats:italic>\n                    models have been developed for the ECM, including cell-derived matrices (CDMs). CDMs are decellularized natural ECMs assembled by cells that closely mimic the\n                    <jats:italic>in vivo<\/jats:italic>\n                    stromal fibre organization and molecular content. Here, we applied atomic force microscopy-force spectroscopy (AFM-FS) to evaluate the nanomechanical properties of CDMs obtained from patients diagnosed with collagen VI-related congenital muscular dystrophies (COL6-RDs). COL6-RDs are a set of neuromuscular conditions caused by pathogenic variants in any of the three major COL6 genes, which result in deficiency or dysfunction of the COL6 incorporated into the ECM of connective tissues. Current diagnosis includes the genetic confirmation of the disease and categorization of the phenotype based on maximum motor ability, as no direct correlation exists between genotype and phenotype of COL6-RDs. We describe differences in the elastic modulus (\n                    <jats:italic>E<\/jats:italic>\n                    ) among CDMs from patients with different clinical phenotypes, as well as the restoration of\n                    <jats:italic>E<\/jats:italic>\n                    in CDMs obtained from genetically edited cells. Results anticipate the potential of the nanomechanical analysis of CDMs as a complementary clinical tool, providing phenotypic information about COL6-RDs and their response to gene therapies.\n                  <\/jats:p>","DOI":"10.1098\/rsif.2024.0860","type":"journal-article","created":{"date-parts":[[2025,3,12]],"date-time":"2025-03-12T04:05:08Z","timestamp":1741752308000},"update-policy":"https:\/\/doi.org\/10.1098\/crossmark-policy","source":"Crossref","is-referenced-by-count":3,"title":["Nanomechanics of cell-derived matrices as a functional read-out in collagen VI-related congenital muscular dystrophies"],"prefix":"10.1098","volume":"22","author":[{"given":"Tom","family":"White","sequence":"first","affiliation":[{"name":"Nanobioengineering Group, Institute for Bioengineering of Catalonia (IBEC), The Barcelona Institute for Science and Technology (BIST)","place":["Barcelona, 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de Neuropediatr\u00eda, Hospital Sant Joan de D\u00e9u","place":["Barcelona, Spain"]},{"name":"CIBER-ER, ISCIII","place":["Madrid, Spain"]},{"name":"Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona","place":["Barcelona, Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecilia","family":"Jimenez-Mallebrera","sequence":"additional","affiliation":[{"name":"Laboratorio de Investigaci\u00f3n Aplicada en Enfermedades Neuromusculares, Institut de Recerca Sant Joan de D\u00e9u","place":["Barcelona, Spain"]},{"name":"Unidad de Patolog\u00eda Neuromuscular, Servicio de Neuropediatr\u00eda, Hospital Sant Joan de D\u00e9u","place":["Barcelona, Spain"]},{"name":"CIBER-ER, ISCIII","place":["Madrid, Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Josep","family":"Samitier","sequence":"additional","affiliation":[{"name":"Nanobioengineering Group, Institute for Bioengineering of Catalonia (IBEC), The Barcelona Institute for Science and Technology (BIST)","place":["Barcelona, Spain"]},{"name":"CIBER-BBN, ISCIII","place":["Madrid, Spain"]},{"name":"Department of Electronic and Biomedical Engineering, University of Barcelona","place":["Barcelona, Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina In\u00e9s","family":"Giannotti","sequence":"additional","affiliation":[{"name":"CIBER-BBN, ISCIII","place":["Madrid, Spain"]},{"name":"Nanoprobes and Nanoswitches, Institute for Bioengineering of Catalonia (IBEC), The Barcelona Institute of Science and Technology (BIST)","place":["Barcelona, Spain"]},{"name":"Department of Materials Science and Physical Chemistry, University of Barcelona","place":["Barcelona, Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0936-3401","authenticated-orcid":true,"given":"Anna","family":"Lagunas","sequence":"additional","affiliation":[{"name":"Nanobioengineering Group, Institute for Bioengineering of Catalonia (IBEC), The Barcelona Institute for Science and Technology (BIST)","place":["Barcelona, Spain"]},{"name":"CIBER-BBN, ISCIII","place":["Madrid, Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"175","published-online":{"date-parts":[[2025,3,12]]},"reference":[{"key":"e_1_3_8_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrm3904"},{"key":"e_1_3_8_3_2","doi-asserted-by":"publisher","DOI":"10.1165\/rcmb.2020-0398ED"},{"key":"e_1_3_8_4_2","doi-asserted-by":"publisher","DOI":"10.3389\/fonc.2020.575569"},{"key":"e_1_3_8_5_2","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201004082"},{"key":"e_1_3_8_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.yexcr.2013.05.030"},{"key":"e_1_3_8_7_2","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200810041"},{"key":"e_1_3_8_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2011.05.040"},{"key":"e_1_3_8_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.biomaterials.2006.12.030"},{"key":"e_1_3_8_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/adfm.202000496"},{"key":"e_1_3_8_11_2","doi-asserted-by":"publisher","DOI":"10.1021\/acsami.0c05012"},{"key":"e_1_3_8_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/adfm.201702322"},{"key":"e_1_3_8_13_2","doi-asserted-by":"publisher","DOI":"10.1021\/acsami.6b13063"},{"key":"e_1_3_8_14_2","doi-asserted-by":"publisher","DOI":"10.1038\/JID.2015.352"},{"key":"e_1_3_8_15_2","doi-asserted-by":"publisher","DOI":"10.3389\/fbioe.2022.851825"},{"key":"e_1_3_8_16_2","volume-title":"GeneReviews\u00ae","author":"Foley 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In GeneReviews\u00ae (eds MP Adam, GM Mirzaa, RA Pagon, SE Wallace, LJ Bean, KW Gripp, A Amemiya). Seattle, WA: University of Washington. 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