The role of integrin β1D mislocalization in the pathophysiology of calpain 3-related limb–girdle muscular dystrophy

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dc.contributor.authorValls Rodríguez, Andrea
dc.contributor.authorRuiz Roldán, Cristina
dc.contributor.authorImmanuel, Jenita
dc.contributor.authorAlonso-Martin, Sonia
dc.contributor.authorGallardo, Eduard
dc.contributor.authorFernández Torrón, Roberto
dc.contributor.authorBonilla Zagala, Mario
dc.contributor.authorLersundi Artamendi, Ana
dc.contributor.authorHernández Laín, A.
dc.contributor.authorDomínguez González, Cristina
dc.contributor.authorVílchez, Juan J.
dc.contributor.authorIruzubieta Agudo, Pablo
dc.contributor.authorLópez de Munain Arregui, Adolfo
dc.contributor.authorSáenz, Amets
dc.date.accessioned2025-04-16T10:46:21Z
dc.date.available2025-04-16T10:46:21Z
dc.date.issued2025-03
dc.date.updated2025-04-16T10:46:21Z
dc.description.abstractLimb–girdle muscular dystrophy R1 (LGMDR1) is characterized by progressive proximal muscle weakness due to mutations in the CAPN3 gene. Little is known about CAPN3’s function in muscle, but its loss results in aberrant sarcomere formation. Human muscle structure was analyzed in this study, with observations including integrin β1D isoform (ITGβ1D) mislocalization, a lack of Talin-1 (TLN1) in the sarcolemma and the irregular expression of focal adhesion kinase (FAK) in LGMDR1 muscles, suggesting a lack of integrin activation with an altered sarcolemma, extracellular matrix (ECM) assembly and signaling pathway deregulation, which may cause frailty in LGMDR1 muscle fibers. Additionally, altered nuclear morphology, centrosome distribution and microtubule organization have been found in muscle cells derived from LGMDR1 patientsen
dc.description.sponsorshipThis study was funded by the Instituto de Salud Carlos III (ISCIII) through the project “PI21/00047” and co-funded by the European Union. It was also funded by the Department of Health from the Government of the Basque Country (project ref 2021111022) and the Association Française Contre les Myopathies (AFM 24743). This work was, in part, supported by the Center for Networked Biomedical Research on Neurodegenerative Diseases (CIBERNED: CB06/05/1126 to Andrea Valls, Jenita Immanuel, Sonia Alonso-Martin, Roberto Fernández-Torrón, Adolfo López de Munain, and Amets Sáenz) and GENE (the Association of Neuromuscular Diseases of Gipuzkoa)en
dc.identifier.citationValls, A., Ruiz-Roldán, C., Immanuel, J., Alonso-Martín, S., Gallardo, E., Fernández-Torrón, R., Bonilla, M., Lersundi, A., Hernández-Laín, A., Domínguez-González, C., Vílchez, J. J., Iruzubieta, P., López de Munain, A., & Sáenz, A. (2025). The role of integrin β1D mislocalization in the pathophysiology of calpain 3-related limb–girdle muscular dystrophy. Cells, 14(6). https://doi.org/10.3390/CELLS14060446
dc.identifier.doi10.3390/CELLS14060446
dc.identifier.eissn2073-4409
dc.identifier.urihttp://hdl.handle.net/20.500.14454/2634
dc.language.isoeng
dc.publisherMultidisciplinary Digital Publishing Institute (MDPI)
dc.rights© 2025 by the authors
dc.subject.otherCalpain 3
dc.subject.otherCostamere
dc.subject.otherIntegrin β1
dc.subject.otherLGMDR1
dc.subject.otherLimb-girdle muscular dystrophy
dc.titleThe role of integrin β1D mislocalization in the pathophysiology of calpain 3-related limb–girdle muscular dystrophyen
dc.typejournal article
dcterms.accessRightsopen access
oaire.citation.issue6
oaire.citation.titleCells
oaire.citation.volume14
oaire.licenseConditionhttps://creativecommons.org/licenses/by/4.0/
oaire.versionVoR
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