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Dominant-negative pathogenic variants in the genes encoding \u03b1 chains of collagen VI are the main cause of COL6-RD. Here we report that patient-derived fibroblasts carrying a common single nucleotide variant mutation are unable to build the extracellular collagen VI network. This correlates with the intracellular accumulation of endosomes and lysosomes triggered by the increased phosphorylation of the collagen VI receptor CMG2. Notably, using a CRISPR-Cas9 gene-editing tool to silence the dominant-negative mutation in patients\u2019 cells, we rescued the normal extracellular collagen VI network, CMG2 phosphorylation levels, and the accumulation of endosomes and lysosomes. Our findings reveal an unanticipated role of CMG2 in regulating endosomal and lysosomal homeostasis and suggest that mutated collagen VI dysregulates the intracellular environment in fibroblasts in collagen VI-related muscular dystrophy.<\/jats:p>","DOI":"10.3390\/ijms23147651","type":"journal-article","created":{"date-parts":[[2022,7,11]],"date-time":"2022-07-11T21:57:53Z","timestamp":1657576673000},"page":"7651","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["The Capillary Morphogenesis Gene 2 Triggers the Intracellular Hallmarks of Collagen VI-Related Muscular Dystrophy"],"prefix":"10.3390","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6953-5420","authenticated-orcid":false,"given":"Enrico","family":"Castroflorio","sequence":"first","affiliation":[{"name":"ICFO-The Institute of Photonic Sciences, The Barcelona Institute of Science and Technology, 08860 Castelldefels, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Joaquina","family":"P\u00e9rez Bern\u00e1","sequence":"additional","affiliation":[{"name":"ALBA Synchrotron Light Source, 08290 Cerdanyola del Vall\u00e8s, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0124-3261","authenticated-orcid":false,"given":"Ar\u00edstides","family":"L\u00f3pez-M\u00e1rquez","sequence":"additional","affiliation":[{"name":"Laboratorio de Investigaci\u00f3n Aplicada en Enfermedades Neuromusculares, Unidad de Patolog\u00eda Neuromuscular, Servicio de Neuropediatr\u00eda, Institut de Recerca Sant Joan de D\u00e9u, 08950 Esplugues de Llobregat, Spain"},{"name":"Institut de Recerca Sant Joan de D\u00e9u, 08950 Esplugues de Llobregat, Spain"},{"name":"Centro de Investigaciones Biom\u00e9dicas en Red de Enfermedades Rara (CIBERER), 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen","family":"Badosa","sequence":"additional","affiliation":[{"name":"Laboratorio de Investigaci\u00f3n Aplicada en Enfermedades Neuromusculares, Unidad de Patolog\u00eda Neuromuscular, Servicio de Neuropediatr\u00eda, Institut de Recerca Sant Joan de D\u00e9u, 08950 Esplugues de Llobregat, Spain"},{"name":"Institut de Recerca Sant Joan de D\u00e9u, 08950 Esplugues de Llobregat, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3129-1213","authenticated-orcid":false,"given":"Pablo","family":"Loza-Alvarez","sequence":"additional","affiliation":[{"name":"ICFO-The Institute of Photonic Sciences, The Barcelona Institute of Science and Technology, 08860 Castelldefels, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9530-6234","authenticated-orcid":false,"given":"M\u00f3nica","family":"Rold\u00e1n","sequence":"additional","affiliation":[{"name":"Institut de Recerca Sant Joan de D\u00e9u, 08950 Esplugues de Llobregat, Spain"},{"name":"Unitat de Microsc\u00f2pia Confocal i Imatge Cellular, Servei de Medicina Gen\u00e8tica i Molecular, Institut Pedi\u00e0tric de Malaties Rares (IPER), Hospital Sant Joan de D\u00e9u, 08950 Esplugues de Llobregat, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8203-7103","authenticated-orcid":false,"given":"Cecilia","family":"Jim\u00e9nez-Mallebrera","sequence":"additional","affiliation":[{"name":"Laboratorio de Investigaci\u00f3n Aplicada en Enfermedades Neuromusculares, Unidad de Patolog\u00eda Neuromuscular, Servicio de Neuropediatr\u00eda, Institut de Recerca Sant Joan de D\u00e9u, 08950 Esplugues de Llobregat, Spain"},{"name":"Institut de Recerca Sant Joan de D\u00e9u, 08950 Esplugues de Llobregat, Spain"},{"name":"Centro de Investigaciones Biom\u00e9dicas en Red de Enfermedades Rara (CIBERER), 28029 Madrid, Spain"},{"name":"Department of Genetics, University of Barcelona, 08028 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,7,11]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1038\/nrneurol.2011.81","article-title":"The collagen VI-related myopathies: Muscle meets its matrix","volume":"7","year":"2011","journal-title":"Nat. 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