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Posts by category
- Category: Active Clinical Projects
- Category: Active Research Projects
- Single cell gene expression atlas of dysferlin-deficient muscle – Puri/Jaiswal
- Lipids in Dysferlinopathies
- Analyzing the Role of Dysferlin in Skeletal Muscle in Vitro and in Vivo
- Development of 3-dimensional human skeletal muscle tissue models of Limb-Girdle Muscular Dystrophy 2B
- Ketogenic Diet Ameliorates Dysferlinopathy Phenotype in Bla/J Mice by Promoting Mitochondrial Function
- Mapping the Dysferlin Structure and Interactome
- A novel role of dysferlin in regulating skeletal muscle metabolism contributes to disease pathology in dysferlinopathies
- Single cell gene expression atlas of dysferlin-deficient muscle – Jaiswal/Puri
- Leaky Ryanodine Receptors in Dysferlinopathy
- Fibre type dependence of dysferlin protein in rodent skeletal muscle, and the distribution of dysferlin in the t-tubular or sarcolemma in rat skeletal muscle
- Design of new nano-dysferlin molecules for AAV therapy
- Galectin-1: A potential protein therapy for Limb Girdle Muscular Dystrophy type 2B
- Determining efficacy of 4-phenylbutyric acid in in vitro and in vivo models of dysferlinopathy
- Cutting the fat: Targeting DGAT2 to treat dysferlin-deficient muscle
- Analyzing the role of dysferlin in skeletal muscle in membrane repair
- Category: Past Projects
- A Concept Elicitation/ Feasibility Study for the Limb-Girdle Video Assessment
- Lipidomic analyses of dysferlin-deficient muscles related to age, myofibre type, sex
- Biochemical and Therapeutic Characterization of Dysferlin
- Monocyte assay and targeted transcriptome sequencing as a functional tool for dysferlin detection and dysferlinopathy molecular diagnosis
- Interrogating the role of evolutionarily conserved dysferlin exon 40a in muscle membrane repair, lipidomics and muscular dystrophy
- Interrogating the role of evolutionarily conserved dysferlin exon 40a in muscle membrane repair, lipidomics and muscular dystrophy
- Ca2+ handling and tubular (t-) system function in dysferlinopathy
- Molecular-Functional Comparison of the Dysferlin Membrane Repair Complex with the Otoferlin Synaptic Complex
- Extending insight into immune disturbances in dysferlinopathy: implications for mechanistic basis of pathogenesis and targeted therapies
- IL-34: A Potential Therapeutic Target for Dysferlinopathy
- The Use of CRISPR as a Potential Therapeutic for Dysferlinopathy
- DNA-Mediated Gene Therapy for Dysferlinopathy
- Identification of blood-based biomarkers that may be associated with differences in muscle function
- Monocyte assay and targeted transcriptome sequencing as a functional tool for dysferlin detection and dysferlinopathy molecular diagnosis
- Mechanisms of muscle steatosis in dysferlinopathy: relationship to interaction of dysferlin and PTRF
- Testing the efficacy of Ataluren on restoring dysferlin expression and function in a mouse model
- An International Clinical Outcome Study for Dysferlinopathy (LGMD2B/Miyoshi)
- An International Clinical Outcome Study for Dysferlinopathy (LGMD2B/Miyoshi)
- Pre-clinical studies with Givinostat for the treatment of dysferlinopathies
- Dysferlin Protein Analysis for Patients in India
- CSF-1 and IL-34 Potential Therapeutic Targets and Biomarkers for Dysferlinopathy
- Determining Pathogenicity of Human Dysferlin SNPs
- Intramuscle inflammatory MФ and adipocyte interactions: Central role of CSF-1/IL-34 driving dysferlinopathy
- Developing a screening assay using dysferlin deficient cells
- Application of Rosetta and Foldit for Structural Modeling of DYSF
- Monocytes and Dysferlinopathy: Role of Thrombospondin-1
- Preventing Dysferlinopathy Through Anti-cholesterol Approaches
- Development of a Cellular Dysferlin Deficiency Screening Assay
- Enhanced AAV Vectors for Dysferlin Gene Delivery and Evaluation in a Dysferlin Deficient Mouse Model of Muscle Regeneration
- Proliferating Inflammatory Macrophages Mediate Dysferlinopathy
- Loss of Muscle Mass in Mouse Models of Dysferlinopathy
- High Resolution Live Cell Fluorescence Imaging of Dysferlin
- Identification of the Functional Role of Dysferlin
- Regenerative capacity of hypothermic treatment in induced human satellite cells
- Developing a Multi-Pronged Strategy for the Clinical Management of Dysferlinopathies
- Disease-modifying factors in inherited muscle diseases, a twin study
- Creating Libraries of Nanobodies That Recognize Selected Regions of Dysferlin
- AAV Dysferlin Dual Vector Gene Therapy as a Treatment for Dysferlinopathies
- Generation of dysferlin deficient inducible pluripotent stem cell lines
- Structure/function relationship of human dysferlin and its role in Limb-Girdle muscular dystrophy
- Quantitation of Proteins Associated with Structural Abnormalities in Dysferlin-Deficient Skeletal Muscle
- Analyzing ryanodine receptor in dysferlin deficient skeletal muscle
- Phenotyping Assessment of Bla/J; a Mouse Model for LGMD2B Disease
- Defective macrophage polarization: central to dysferlinopathy
- Investigation of Pre-Pathological Aetiology of Dysferlinopathy in the mouse
- Identification of Genetic and Chemical Suppressors of C. Elegans Fer-1
- Assessment of Prevalence of Limb Girdle Muscular Dystrophy
- Therapeutic Role of Dietary Lipids in LGMD2B Muscular Dystrophy
- Exon skipping as a therapeutic strategy for dysferlinopathy
- Generating a targeted mutation resource in zebrafish
- Bone marrow transplantation as a therapeutic approach for dysferlinopathies
- Quantification of lipid in dysferlin-deficient muscles and other dystrophies
- Targeting Mitochondrial Apoptosis For Effectively Treating Dysferlinopathies
- Energy Metabolism, 1H-MRS and MRI Muscle Measurements in Dysferlin Deficient and WT Mice
- Effects of Macrophages on Myogenicity of Dysferlin-Deficient Myoblasts
- Development of a Test Predictive of Therapeutic Efficiency
- Dysferlin Binding Partners
- Combined cell transplantation as a therapeutic approach for dysferlinopathies and transversal study to evaluate the frequency of carriers of dysferlinopathy in Caucasian population using a monocyte’s test to detect dysferlin expression
- Protein Therapeutics for Restoration of Membrane Integrity
- Development of Dysferlin-Deficient Zebrafish as a Drug Screening Tool
- Measuring Reactive Oxygen Species (ROS) in Mouse Models of Dysferlinopathy
- Analyzing the Role of Dysferlin in Myogenesis and Sarcolemmal Repair In Vivo
- Dysferlin in healthy and injured skeletal muscle
- Development and Maintenance of the UMD-DYSF Locus-Specific Database
- Could modifications in the muscle secretome be involved in the physiopothology of Dysferlinopothies
- Generating Immortal Cell Lines from Dysferlin Patients
- Testing of Dysferlin Antibodies
- Development of Dysferlin Affinity Binders
- Development of Dysferlin-Deficient Mouse Models Suitable for Non-Invasive Imaging
- Detection, Validation, and Cataloging of Copy Number Variation in the Dysferlin Gene
- Regulation of Muscle Growth by the TGF-β family
- Novel Membrane Repair Proteins
- Generation and Characterization of Dysferlin Deficient and Myoferlin Deficient Muscle Cells
- Conditionally Immortal Dysferlin-deficient Cell Lines from Mouse Models
- Integrase-mediated non-viral gene therapy for limb girdle muscular dystrophy 2B
- The role of immune dysfunction in the development and progression of dysferlinopathies
- A Dog Model of Dysferlin Deficiency
- High Throughput Proteomic Screening to Identify Dysferlin Interaction Partners
- Blocking Myofiber Necrosis in Treating Dysferlinopathy by Ameliorating Calcium Dysregulation
- Laser Wounding Model Comparison
- Production and Characterization of Chicken-raised Dysferlin Isoform-specific Antibodies
- Oligonucleotide-Mediated Gene Repair
- Determination of the Site and the Size of Membrane Tears in Dysferlinopathy
- Identification of the Gene Involved in MMD3
- Molecular Chaperones for Missense Dysferlin
- AFM as a Membrane Wounding Protocol
- Dysferlin Gene Transfer
- Evaluation of Therapies to Enhance Muscle Function in Dysferlinopathies
- Sonoporation Membrane Wounding for High Resolution Imaging of Membrane Repair
- Dysferlin-Deficient Sea Urchin Embryos
- Exon Skipping in CD133+ Cells from Blood and Muscle
- Membrane Repair Assays
- Non-Invasive Imaging
- Multipotent Adult Progenitor Cells (MAPCs)
- Androgen Receptor Mediators
- Dysferlin in Apoptosis
- Regenerative Capacity of Muscle
- C. elegans High Throughput Compound Screen
- Pre-Clinical Drug Screening
- Mutation Identification and Therapies
- Exon Skipping
- Increased Myoferlin Expression
- In Vitro High Throughput Screening Assay
- Therapeutic Potential of a “Membrane Bandage”
- CD55 Modulation
- Gene Therapy with Mini-Dysferlin
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- Patients/Clinicians - Clinical Trials, Studies And Surveys - rAAVrh74.MHCK7.DYSF.DV for Treatment of Dysferlinopathies