Urinary N-terminal titin fragment ascertained as biomarker in a small cohort of limb-girdle muscular dystrophy LGMDR1-calpain 3 related

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dc.contributor.authorValls Rodríguez, Andrea
dc.contributor.authorRuiz Roldán, Cristina
dc.contributor.authorImmanuel, Jenita
dc.contributor.authorCamaño González, Pilar
dc.contributor.authorPoza Aldea, Juan José
dc.contributor.authorFernández Torrón, Roberto
dc.contributor.authorLópez de Munain Arregui, Adolfo
dc.contributor.authorSáenz, Amets
dc.date.accessioned2025-09-24T11:00:39Z
dc.date.available2025-09-24T11:00:39Z
dc.date.issued2025-05-13
dc.date.updated2025-09-24T11:00:39Z
dc.description.abstractWe aimed to investigate the validity of urinary N-terminal titin (TTN) fragment as a biomarker for limb-girdle muscular dystrophy LGMDR1-calpain 3 related. Thirteen LGMDR1 patients and eleven healthy controls were enrolled for the study. LGMDR1 patients had significantly increased urinary N-terminal titin fragment concentrations than age-matched controls. Even if urinary level of titin decreased with aging, it was still high in wheelchair bound patients. Thus, our findings indicate that urinary N-terminal titin fragment is a non-invasive measure of muscle damage in LGMDR1, which could be used in disease monitoring in clinical trials even in wheelchair-bound patients.en
dc.description.sponsorshipThis study has been funded by Instituto de Salud Carlos III (ISCIII) through the project “PI21/00047” and co-funded by the European Union. It has been funded also by Department of Health of the Government of the Basque Country (project ref 2021111022 and 2024111043) and 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, Pilar Camaño, Adolfo López de Munain, and Amets Sáenz), GENE (Association of Neuromuscular disease of Gipuzkoa)en
dc.identifier.citationValls, A., Ruiz-Roldán, C., Immanuel, J., Camaño, P., Poza, J. J., Fernández-Torrón, R., López de Munain, A., & Sáenz, A. (2025). Urinary N-terminal titin fragment ascertained as biomarker in a small cohort of limb-girdle muscular dystrophy LGMDR1-calpain 3 related. Journal of neuromuscular diseases, 12(5), 683-688. https://doi.org/10.1177/22143602251323629
dc.identifier.doi10.1177/22143602251323629
dc.identifier.eissn2214-3602
dc.identifier.urihttps://hdl.handle.net/20.500.14454/3729
dc.language.isoeng
dc.publisherSage
dc.subject.otherBiomarker
dc.subject.otherCalpain 3
dc.subject.otherClinical trial
dc.subject.otherLGMDR1
dc.subject.otherPhenotype severity
dc.titleUrinary N-terminal titin fragment ascertained as biomarker in a small cohort of limb-girdle muscular dystrophy LGMDR1-calpain 3 relateden
dc.typejournal article
dcterms.accessRightsopen access
oaire.citation.endPage688
oaire.citation.issue5
oaire.citation.startPage683
oaire.citation.titleJournal of neuromuscular diseases
oaire.citation.volume12
oaire.licenseConditionhttps://creativecommons.org/licenses/by-nc/4.0/
oaire.versionVoR
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