Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 20 of 68 for “"dystrophin"”.
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A biochemical and molecular analysis of functional differences between dystrophin and utrophin
The DMD gene encodes the protein dystrophin, a 427kD cytoplasmic protein responsible for linking the actin cytoskeleton to the extracellular matrix via the dystrophin-glycoprotein complex. Mutations in dystrophin that abolish its expression lead to Duchenne muscular dystrophy (DMD). Patients with …
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Fibromodulin and Dystrophin in Atherosclerosis: Novel roles for extracellular matrix in plaque development
… with the anti-inflammatory cytokine IL-10. Dystrophin, and the dystrophin-glycoprotein complex (DGC), link the actin cytoskeleton to the basement membrane. This thesis provides novel data on dystrophin deficiency, as illustrated by the mdx mouse. The absence of dystrophin stimulates …
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Dissecting the signaling and mechanical functions of the dystrophin-glycoprotein complex in skeletal muscle
… is caused by mutations in the gene encoding the dystrophin protein. Dystrophin is required for assembly of the dystrophin-glycoprotein complex (DGC) and provides a mechanically strong link between the cytoskeleton and the extracellular matrix. Several DGC proteins also participate in signaling …
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Immunolocalization of dystrophin and neurofilament protein in muscle spindles of normal, mdx-dystrophic, and denervated mice
Dystrophin is a high molecular weight protein localized under the sarcolemma of normal extrafusal muscle fibers but absent in skeletal muscles of Duchenne muscular dystrophy patients and in the mdx mouse. Muscle spindles in the soleus of 32-week-old normal and age-matched mdx mice were examined by …
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Exploring Dystrophin-Mediated Control of Neural Stem Cell Fate Associated with Intellectual Disability In Duchenne Muscular Dystrophy Patients
… resulting in the deletion of the full-length dystrophin protein (Dp427) and, dependent on mutation, other dystrophin isoforms. These isoforms are predominantly found in the brain and deletion may impact on cognition. The most commonly used animal model to study DMD is the mdx mouse which …
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Determination of Genetic Interactions Required for Dystrophin-Dystroglycan Function and Regulation in a Drosophila Model of Muscular Dystrophy
… Muskeldystrophie (MD) mit einer Schädigung des Dystrophin-Glykoprotein Komplexes (DGC) zusammen. Der DGC besteht aus Dystrophin, Dystroglykanen, Sarkoglykanen, Sarkospan, Syntrophinen und Dystrobrevin. Die Charakterisierung des Drosophila melanogaster DGC zeigt, dass die Fliege alle wesentlichen …
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Potential adaptive signaling pathways in the diaphragm of mdx mice treated with micro-dystrophin combined with voluntary running
… wheel running (R) was complementary to micro-dystrophin gene therapy (GT) in mdx mice, a model of Duchenne muscular dystrophy (DMD). After 21 weeks of running, time to fatigue on a treadmill for the mdxRGT mice was increased 1.8-fold compared to mdxGT mice (no run) and ~5-fold compared to mdx …
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Calcium Remodeling through Different Signaling Pathways in Heart Failure: Arrhythmogenesis Studies of Pyk2, Dystrophin, and β-adrenergic Receptor Signaling
… a clinical syndrome resulted from recessive of dystrophin and eventually develops into heart failure. The project suggested the association of mechanical stimulation and deficiency of dystrophin account for the cardiac mechanical defects and resulting Ca mishandling, but not either of the two …
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Conformational changes in actinin-type actin binding domains: probing actin-induced structural dynamics in dystrophin and utrophin using EPR spectroscopy.
… muscular dystrophies is a lack of functional dystrophin, a large multidomain protein. Dystrophin is normally expressed in muscle, where it links the extracellular matrix to the cortical actin cytoskeleton via a complex of associated proteins. Dystrophin, and its autosomal homologue utrophin, …
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Genetic Correction of Duchenne Muscular Dystrophy using Engineered Nucleases
… a severe hereditary disorder caused by a loss of dystrophin, an essential musculoskeletal protein. Decades of promising research have yielded only modest gains in survival and quality of life for these patients and there have been no approved gene therapies for DMD to date. There are two …
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Evaluation of Myogenic Differentiation Potential of BMD iPSCs in vitro and the Effect of Ubiquitination Inhibitors on Dystrophin Stability in vivo
… no cure for BMD. Meanwhile, improvement of dystrophin stability by repressing polyubiquitination is a promising strategy. The application of human iPSCs in tissue regeneration also serves as a potential therapeutic strategy. This study aims to test the efficacy of selected drugs interfering …
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Proteomic Profiling of the mdx Animal Model for Duchenne Muscular Dystrophy
… and wasting due to genetic abnormalities in the dystrophin gene. While the primary abnormality lies with the loss of the crucial membrane cytoskeletal protein dystrophin and the reduction of its associated glycoprotein complex, secondary alterations in cellular signalling, ion homeostasis …
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MODELING HEART DISEASE OF PATIENTS WITH MUSCULAR DYSTROPHY USING INDUCED PLURIPOTENT STEM CELLS
Dystrophin deficient cardiomyopathy is a hereditary disorder resulting from dystrophin gene mutation. All patients inevitably develop cardiomyopathy and 30%-50% of them succumb to congestive heart failure. The mechanism of dystrophic cardiomyopathy is still elusive, partly due to the scarce human …
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An Alpha7beta1 Integrin-Based Treatment of Muscular Dystrophy
… are the alpha7beta1 integrin complex and the dystrophin protein complex. Both act as molecular chains that connect the actin cytoskeleton to laminin in the basal lamina. Disruption of either linkage system leads to muscular dystrophy in humans and mice. To determine if the integrin complex can …
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Investigating the role of interleukin-6 in neuronal dysfunction in the mdx mouse model of Duchenne muscular dystrophy
… disorder that results in a loss of dystrophin in muscle fibres, leading to progressive immobility, chronic inflammation and premature death. Inflammation is characterised by increased circulating levels of pro-inflammatory cytokines such as IL-6. However, it is apparent that …
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Immune and stress factors in the pathophysiology of the mdx mouse model of Duchenne Muscular Dystrophy
… neuromuscular disease caused by loss of dystrophin. The loss of dystrophin from membranes of contractile muscle cells and the dysregulation of the DAPC, induces chronic inflammation due to tissue necrosis and eventual replacement with collagen which weakens muscular force and strength. …
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CORRECTION OF THE GENETIC DEFECT IN INDUCED PLURIPOTENT STEM CELL LINES THROUGH CHROMOSOME TRANSPLANTATION
… A group of these disorders falls within the dystrophinopathies. Dystrophinopathies are X-linked disorders caused by mutations in the DMD gene (Xp21.2), which encodes the dystrophin protein. The dystrophin or DMD gene is one of the largest protein-coding genes in the human genome (79 exons) …
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Investigating a Role for the Duchenne Muscular Dystrophy Gene in the Tumourigenesis of Head and Neck Cancer
… head and neck. The DMD gene encodes for several dystrophin protein products that have a range of roles outside of muscle. However, the details surrounding their involvement in tumourigenesis are poorly understood. Using primary HNSCC tumour RNA-Seq data from The Cancer Genome Atlas (TCGA) …
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Targeting transcriptional and translational mechanisms to enhance utrophin A expression as a therapy for Duchenne muscular dystrophy
… disorder caused by mutations/deletions in the dystrophin gene. In skeletal muscle, dystrophin is expressed along the sarcolemma, providing a mechanical link between the cytoskeleton and the extracellular matrix; loss of dystrophin results in disrupted sarcolemmal integrity and progressive …
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