The Role of Integrin β1D Mislocalization in the Pathophysiology of Calpain 3-Related Limb-Girdle Muscular Dystrophy

Limb-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...

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Autores: Valls-Mateu, Aida|||0000-0003-3616-7809, Ruiz-Roldán, C., Immanuel, J., Alonso-Martín, S., Gallardo, Eduard|||0000-0002-3942-3436, Fernandez-Torron, Roberto|||0000-0002-2202-8165, Bonilla, M., Lersundi, A., Hernández-Laín, A., Domínguez-González, Cristina|||0000-0001-5151-988X, Vílchez, J.J., Iruzubieta, P., López de Munain, A., Sáenz, A.
Tipo de recurso: artículo
Fecha de publicación:2025
País:España
Institución:Universitat Autònoma de Barcelona
Repositorio:Dipòsit Digital de Documents de la UAB
Idioma:inglés
OAI Identifier:oai:ddd.uab.cat:321771
Acceso en línea:https://ddd.uab.cat/record/321771
https://dx.doi.org/urn:doi:10.3390/cells14060446
Access Level:acceso abierto
Palabra clave:LGMDR1
Calpain 3
Costamere
Integrin β1
Limb-girdle muscular dystrophy
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spelling The Role of Integrin β1D Mislocalization in the Pathophysiology of Calpain 3-Related Limb-Girdle Muscular DystrophyValls-Mateu, Aida|||0000-0003-3616-7809Ruiz-Roldán, C.Immanuel, J.Alonso-Martín, S.Gallardo, Eduard|||0000-0002-3942-3436Fernandez-Torron, Roberto|||0000-0002-2202-8165Bonilla, M.Lersundi, A.Hernández-Laín, A.Domínguez-González, Cristina|||0000-0001-5151-988XVílchez, J.J.Iruzubieta, P.López de Munain, A.Sáenz, A.LGMDR1Calpain 3CostamereIntegrin β1Limb-girdle muscular dystrophyLimb-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 patients.Universitat Autònoma de Barcelona 22025-01-0120252025-01-01Articlehttp://purl.org/coar/resource_type/c_6501VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfhttps://ddd.uab.cat/record/321771https://dx.doi.org/urn:doi:10.3390/cells14060446reponame:Dipòsit Digital de Documents de la UABinstname:Universitat Autònoma de BarcelonaInglésengInstituto de Salud Carlos III https://doi.org/10.13039/501100004587 PI21/00047open accesshttp://purl.org/coar/access_right/c_abf2Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.https://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:ddd.uab.cat:3217712026-06-06T12:50:31Z
dc.title.none.fl_str_mv The Role of Integrin β1D Mislocalization in the Pathophysiology of Calpain 3-Related Limb-Girdle Muscular Dystrophy
title The Role of Integrin β1D Mislocalization in the Pathophysiology of Calpain 3-Related Limb-Girdle Muscular Dystrophy
spellingShingle The Role of Integrin β1D Mislocalization in the Pathophysiology of Calpain 3-Related Limb-Girdle Muscular Dystrophy
Valls-Mateu, Aida|||0000-0003-3616-7809
LGMDR1
Calpain 3
Costamere
Integrin β1
Limb-girdle muscular dystrophy
title_short The Role of Integrin β1D Mislocalization in the Pathophysiology of Calpain 3-Related Limb-Girdle Muscular Dystrophy
title_full The Role of Integrin β1D Mislocalization in the Pathophysiology of Calpain 3-Related Limb-Girdle Muscular Dystrophy
title_fullStr The Role of Integrin β1D Mislocalization in the Pathophysiology of Calpain 3-Related Limb-Girdle Muscular Dystrophy
title_full_unstemmed The Role of Integrin β1D Mislocalization in the Pathophysiology of Calpain 3-Related Limb-Girdle Muscular Dystrophy
title_sort The Role of Integrin β1D Mislocalization in the Pathophysiology of Calpain 3-Related Limb-Girdle Muscular Dystrophy
dc.creator.none.fl_str_mv Valls-Mateu, Aida|||0000-0003-3616-7809
Ruiz-Roldán, C.
Immanuel, J.
Alonso-Martín, S.
Gallardo, Eduard|||0000-0002-3942-3436
Fernandez-Torron, Roberto|||0000-0002-2202-8165
Bonilla, M.
Lersundi, A.
Hernández-Laín, A.
Domínguez-González, Cristina|||0000-0001-5151-988X
Vílchez, J.J.
Iruzubieta, P.
López de Munain, A.
Sáenz, A.
author Valls-Mateu, Aida|||0000-0003-3616-7809
author_facet Valls-Mateu, Aida|||0000-0003-3616-7809
Ruiz-Roldán, C.
Immanuel, J.
Alonso-Martín, S.
Gallardo, Eduard|||0000-0002-3942-3436
Fernandez-Torron, Roberto|||0000-0002-2202-8165
Bonilla, M.
Lersundi, A.
Hernández-Laín, A.
Domínguez-González, Cristina|||0000-0001-5151-988X
Vílchez, J.J.
Iruzubieta, P.
López de Munain, A.
Sáenz, A.
author_role author
author2 Ruiz-Roldán, C.
Immanuel, J.
Alonso-Martín, S.
Gallardo, Eduard|||0000-0002-3942-3436
Fernandez-Torron, Roberto|||0000-0002-2202-8165
Bonilla, M.
Lersundi, A.
Hernández-Laín, A.
Domínguez-González, Cristina|||0000-0001-5151-988X
Vílchez, J.J.
Iruzubieta, P.
López de Munain, A.
Sáenz, A.
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Universitat Autònoma de Barcelona
dc.subject.none.fl_str_mv LGMDR1
Calpain 3
Costamere
Integrin β1
Limb-girdle muscular dystrophy
topic LGMDR1
Calpain 3
Costamere
Integrin β1
Limb-girdle muscular dystrophy
description Limb-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 patients.
publishDate 2025
dc.date.none.fl_str_mv 2
2025-01-01
2025
2025-01-01
dc.type.none.fl_str_mv Article
http://purl.org/coar/resource_type/c_6501
VoR
http://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.openaire.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv https://ddd.uab.cat/record/321771
https://dx.doi.org/urn:doi:10.3390/cells14060446
url https://ddd.uab.cat/record/321771
https://dx.doi.org/urn:doi:10.3390/cells14060446
dc.language.none.fl_str_mv Inglés
eng
language_invalid_str_mv Inglés
language eng
dc.relation.none.fl_str_mv Instituto de Salud Carlos III https://doi.org/10.13039/501100004587 PI21/00047
dc.rights.none.fl_str_mv open access
http://purl.org/coar/access_right/c_abf2
https://creativecommons.org/licenses/by/4.0/
dc.rights.openaire.fl_str_mv info:eu-repo/semantics/openAccess
rights_invalid_str_mv open access
http://purl.org/coar/access_right/c_abf2
https://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv reponame:Dipòsit Digital de Documents de la UAB
instname:Universitat Autònoma de Barcelona
instname_str Universitat Autònoma de Barcelona
reponame_str Dipòsit Digital de Documents de la UAB
collection Dipòsit Digital de Documents de la UAB
repository.name.fl_str_mv
repository.mail.fl_str_mv
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