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Multiple Exon Skipping in the Duchenne Muscular Dystrophy Hot Spots: Prospects and Challenges

16 October 24 Articles ، Toshifumi Yokota ، Akinori Nakamura ، Yusuke Echigoya multiple exon skipping Duchenne muscular dystrophy ، exon 45-55 skipping therapy ، gene therapy for DMD ، antisense oligonucleotides for Duchenne muscular dystrophy ، dystrophin restoration therapy ، phosphorodiamidate morpholino oligomers (PMOs) ، vivo-PMOs for DMD ، clinical trials for multiple exon skipping ، Duchenne muscular dystrophy gene editing ، DMD exon-skipping hot spots
Multiple Exon Skipping in the Duchenne Muscular Dystrophy Hot Spots: Prospects and Challenges
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 for Duchenne muscular dystrophy

15 October 24 Articles ، Toshifumi Yokota Casimersen for Duchenne muscular dystrophy ، Amondys 45 FDA approval ، Exon 45 skipping therapy ، ESSENCE Phase III trial ، Dystrophin restoration in DMD ، Gene therapy for Duchenne muscular dystrophy ، Casimersen side effects ، Long-term efficacy of exon skipping therapies ، DMD clinical trials update ، Casimersen intravenous treatment
Casimersen for Duchenne muscular dystrophy
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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AAV gene therapy for Duchenne muscular dystrophy: the EMBARK phase 3 randomized trial

13 October 24 Articles ، Craig M McDonald ، Louise Rodino-Klapac ، Jerry R. Mendell AAV gene therapy for DMD ، EMBARK Phase 3 trial ، Delandistrogene moxeparvovec therapy ، Duchenne muscular dystrophy gene therapy ، AAV vector clinical trial ، Micro-dystrophin expression in DMD ، DMD motor function improvement ، Gene therapy safety in DMD ، DMD treatment pipeline ، Future of gene therapy for muscular dystrophy
AAV gene therapy for Duchenne muscular dystrophy: the EMBARK phase 3 randomized trial
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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Recent Progress of Antisense Oligonucleotide Therapy for Superoxide Dismutase 1-mutated Amyotrophic Lateral Sclerosis: Focus on Tofersen

12 October 24 Articles ، Toshifumi Yokota Antisense oligonucleotide therapy for ALS ، Tofersen FDA approval ، SOD1 mutation in ALS ، ALS genetic treatments ، Intrathecal injection ALS treatment ، Neurodegenerative disease therapies ، ASO therapy in neurodegeneration ، Tofersen clinical trials ، ALS biomarkers and treatment ، Future of antisense oligonucleotide therapy
Recent Progress of Antisense Oligonucleotide Therapy for Superoxide Dismutase 1-mutated Amyotrophic Lateral Sclerosis: Focus on Tofersen
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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Some abbreviations - Molecular composition of skeletal muscle in infants and adults:

11 October 24 Articles ، Terminology ، Tobias Ruck ، Anne Schänzer ، Peter F M Van der Ven ، Rita Horvath Skeletal muscle research abbreviations ، Neuromuscular study terms ، Proteomics and transcriptomics ، DEP and DEG in muscle research ، GSEA in neuromuscular disease ، Label-Free Quantification in skeletal muscle ، Gene expression analysis in muscle ، Mitochondrial DNA and muscle function ، Principal Component Analysis in biology ، Overrepresentation Analysis in muscle studies
Some abbreviations - Molecular composition of skeletal muscle in infants and adults:
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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Molecular composition of skeletal muscle in infants and adults: a comparative proteomic and transcriptomic study

11 October 24 Articles ، Tobias Ruck ، Anne Schänzer ، Peter F M Van der Ven ، Rita Horvath Molecular composition of skeletal muscle in infants and adults ، Proteomic and transcriptomic analysis of muscle development ، Differences in gene expression between infant and adult muscles ، Skeletal muscle metabolism and immune system changes with age ، Mitochondrial function and protein regulation in aging muscles ، Developmental vs. aging processes in skeletal muscle ، Comparative muscle biology in early life and adulthood
Molecular composition of skeletal muscle in infants and adults: a comparative proteomic and transcriptomic study
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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Translating golden retriever muscular dystrophy microarray findings to novel biomarkers for cardiac/skeletal muscle function in Duchenne Muscular Dystrophy

08 October 24 Articles ، Joe Kornegay ، Larry Markham GRMD biomarkers for Duchenne muscular dystrophy ، Brain-derived neurotrophic factor (BDNF) in DMD cardiac function ، Osteopontin (SPP1) as a biomarker for skeletal muscle in DMD ، Cardiac and skeletal muscle degeneration in Duchenne dystrophy ، Microarray findings in golden retriever muscular dystrophy (GRMD) ، Serum BDNF and SPP1 as biomarkers for muscle health in DMD ، Translational research in Duchenne muscular dystrophy biomarkers
Translating golden retriever muscular dystrophy microarray findings to novel biomarkers for cardiac/skeletal muscle function in Duchenne Muscular Dystrophy
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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Myotonic Dystrophies: Targeting Therapies for Multisystem Disease

07 October 24 Articles ، W. David Arnold Targeted therapies for myotonic dystrophy (DM) ، Gene editing and ASO treatments for DM1 and DM2 ، New treatments for myotonic dystrophy patients ، Small molecule drugs for DM therapy ، RNA splicing dysfunction in myotonic dystrophy ، Clinical trials for myotonic dystrophy treatment ، Genome editing approaches for DM1 and DM2
Myotonic Dystrophies: Targeting Therapies for Multisystem Disease
This article explores targeted therapies for myotonic dystrophy (DM), focusing on gene editing, ASO therapies, small molecule drugs, and clinical trials aimed at treating DM1 and DM2.
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Myotonic Dystrophy (DM)

05 October 24 Useful information Myotonic dystrophy (DM) types and symptoms ، Difference between DM1 and DM2 in myotonic dystrophy ، Genetic causes of myotonic dystrophy (DM) ، CTG repeat expansion in DM1 and CCTG in DM2 ، Autosomal dominant inheritance of myotonic dystrophy ، Heart and muscle involvement in myotonic dystrophy ، Ongoing research and gene therapy for DM1 and DM2
Myotonic Dystrophy (DM)
Myotonic dystrophy (DM) is a genetic neuromuscular disorder with two types: DM1 and DM2. This article explains their causes, symptoms, inheritance, and current treatment research.
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Golden Retriever Muscular Dystrophy (GRMD)

04 October 24 Useful information Golden Retriever Muscular Dystrophy (GRMD) model for DMD ، Canine model for Duchenne muscular dystrophy research ، Gene therapy research in Golden Retriever muscular dystrophy ، Pharmacological treatments for GRMD and DMD ، Breathing and cardiac issues in GRMD canine models ، Muscle atrophy and weakness in Golden Retriever dystrophy
Golden Retriever Muscular Dystrophy (GRMD)
Golden Retriever Muscular Dystrophy (GRMD) is a genetic disorder in dogs that closely resembles Duchenne muscular dystrophy (DMD) in humans. It serves as a valuable model for studying therapies, including gene therapy and pharmacological treatments.
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