This study explores antisense oligonucleotide (AON) therapy to correct cryptic pre-mRNA splicing defects in Pompe disease. Pathogenic variants in the GAA gene lead to aberrant splice site activation, disrupting enzyme production. Researchers developed a splicing assay to detect defects in patient-derived fibroblasts and successfully redirected cryptic splicing back to canonical sites, improving GAA enzyme activity. This personalized approach offers a promising alternative to enzyme replacement therapy for adult-onset Pompe disease.

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This study explores direct reprogramming of DMD fibroblasts into myotubes as a non-invasive model for testing antisense oligonucleotide (AO)-mediated exon skipping. Using MyoD gene induction, researchers converted fibroblasts into muscle cells, then applied phosphorodiamidate morpholino oligomers (PMOs) to skip exons 45–55, restoring dystrophin expression. This scalable, reproducible method provides an alternative to muscle biopsies, advancing DMD drug development.

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Introducing JIF Hub, a powerful platform for researchers to access Journal Impact Factors (JIF) and key journal metrics. Developed by Saber SamadiAfshar (Afshar Research Group), JIF Hub simplifies journal selection with features like ISSN search, impact factor trends (2020-2023), total citations, quartile rankings, and open-access insights. Designed for researchers, students, and administrators, JIF Hub helps optimize publication decisions and research visibility efficiently.

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Antisense oligonucleotides (ASOs) struggle with endosomal entrapment and inefficient nuclear localization, limiting their therapeutic impact. Researchers explore solutions like endosomal escape agents, peptide-based transport, lipid nanoparticles (LNPs), and nuclear localization signals (NLS) to enhance delivery. Combining non-toxic endosomal escape mechanisms with NLS-enhanced strategies could significantly improve ASO therapies, making them more effective for disease treatment.

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Antisense oligonucleotides (ASOs) are promising gene-targeting therapies, but endosomal escape and nuclear localization limit their effectiveness. Only 1-2% of ASOs reach their target mRNA. Strategies like lipid nanoparticles, pH-responsive materials, and membrane-destabilizing agents aim to improve ASO delivery. Enhancing nuclear localization is also critical for splice-switching oligonucleotides (SSOs). Overcoming these barriers is essential for making ASO-based therapies viable in clinical settings.

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This study evaluates DUX4-targeting antisense oligonucleotide (ASO) therapy for facioscapulohumeral muscular dystrophy (FSHD). Systemic ASO delivery in an FSHD mouse model reduced DUX4 expression, alleviated inflammation and fibrosis, and prevented activation of DUX4 target genes. However, it did not fully restore muscle strength or prevent muscle mass loss. While promising, further optimization of ASO delivery and efficacy is needed for better therapeutic outcomes, especially if applied early in disease progression.

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Casimersen (AMONDYS 45™) is an FDA-approved antisense oligonucleotide therapy for Duchenne muscular dystrophy (DMD) patients whose mutations allow exon 45 skipping. This treatment increases dystrophin production, stabilizing muscle function. Approved in 2021, Casimersen has shown promising results in the ESSENCE trial, significantly boosting dystrophin levels. While it is not a cure, this therapy offers hope for approximately 8% of DMD patients with exon 45 mutations. Clinical trials continue to assess long-term benefits and potential side effects, particularly concerning kidney health.

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This post introduces NS-089/NCNP-02, a novel exon-skipping therapy for Duchenne muscular dystrophy (DMD). Designed to target exon 44, this antisense oligonucleotide improves dystrophin restoration in DMD patients. Unlike traditional single-target ASOs, NS-089/NCNP-02 skips two different sequences within exon 44, enhancing efficiency. Studies in patient-derived cells and cynomolgus monkeys confirm its ability to induce exon skipping in both skeletal and cardiac muscle, offering a promising systemic therapy for DMD.

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Multiple exon skipping is a promising therapy for Duchenne Muscular Dystrophy (DMD), targeting genetic hot spots like exons 45–55 and 3–9 to restore dystrophin. While PMOs have shown potential, challenges in delivery remain. Advances like vivo-PMOs aim to enhance uptake. Despite promising preclinical results, clinical validation is needed to ensure effectiveness and long-term safety. Ongoing research focuses on optimizing delivery and broadening patient eligibility for exon-skipping therapies.

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Casimersen (Amondys 45) is an FDA-approved exon 45 skipping therapy for Duchenne Muscular Dystrophy (DMD). Learn about its efficacy, side effects, and ongoing ESSENCE Phase III trial.

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The Phase 3 EMBARK trial investigates AAV gene therapy (delandistrogene moxeparvovec) for Duchenne muscular dystrophy (DMD). The study assessed improvements in motor function, micro-dystrophin expression, and timed motor tests over 52 weeks. While the therapy showed some positive results, the primary outcome (North Star Ambulatory Assessment) did not reach statistical significance. Most side effects were mild, with a few serious cases resolved without fatal outcomes. The findings suggest AAV gene therapy is promising but requires further validation in future trials.

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Tofersen is an FDA-approved antisense oligonucleotide therapy targeting SOD1 mutations in ALS. This treatment reduces toxic SOD1 protein levels, showing promise in slowing disease progression. Despite challenges with intrathecal administration, ongoing research explores improved delivery methods and earlier interventions for presymptomatic carriers.

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This guide provides key abbreviations used in skeletal muscle research, helping researchers understand DEP, DEG, GO, GSEA, and other essential terms.

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This study compares skeletal muscle composition in infants and adults using proteomics and transcriptomics, identifying key differences in gene expression, metabolism, and immune pathways.

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This study translates GRMD microarray findings to identify biomarkers for cardiac and skeletal muscle function in Duchenne muscular dystrophy (DMD), focusing on BDNF and SPP1.

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