Examinando por Autor "Immanuel, Jenita"

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    Ítem
    The role of integrin β1D mislocalization in the pathophysiology of calpain 3-related limb–girdle muscular dystrophy
    (Multidisciplinary Digital Publishing Institute (MDPI), 2025-03) Valls Rodríguez, Andrea; Ruiz Roldán, Cristina; Immanuel, Jenita; Alonso-Martin, Sonia; Gallardo, Eduard; Fernández Torrón, Roberto; Bonilla Zagala, Mario; Lersundi Artamendi, Ana; Hernández Laín, A.; Domínguez González, Cristina; Vílchez, Juan J.; Iruzubieta Agudo, Pablo; López de Munain Arregui, Adolfo; Sáenz, Amets
    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
  • Miniatura
    Ítem
    Urinary N-terminal titin fragment ascertained as biomarker in a small cohort of limb-girdle muscular dystrophy LGMDR1-calpain 3 related
    (Sage, 2025-05-13) Valls Rodríguez, Andrea; Ruiz Roldán, Cristina; Immanuel, Jenita; Camaño González, Pilar; Poza Aldea, Juan José; Fernández Torrón, Roberto; López de Munain Arregui, Adolfo; Sáenz, Amets
    We 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.