Immortalized Skeletal Muscle Cells: Advancing DMD Research 

13 January 25 Useful information ، Terminology ، Tools and Materials ، Immortalized Skeletal Muscle Cells DuchenneMuscularDystrophy ، ExonSkipping ، musculardystrophy ، دیستروفی_عضلانی_دوشن ، DMDResearch ، MuscularDystrophy ، حذف_اگزون ، NeuromuscularScience ، CellModels ، ScientificTools ، پژوهش_عصبی_عضلانی ، سلولهای_جاودانه ، پژوهش_دوشن
Immortalized Skeletal Muscle Cells: Advancing DMD Research 
    Immortalized Skeletal Muscle Cells: Advancing DMD Research    Immortalized skeletal muscle cells derived from both healthy individuals and Duchenne muscular dystrophy (DMD) patients offer a powerful platform for scientific discovery in the field of neuromuscular disorders. These cells provide a reproducible model for studying disease mechanisms and investigating therapeutic strategies, particularly in the context of exon-skipping therapies.     By using these immortalized cells, researchers can explore how …
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Anti-dystrophin Antibodies and Their Applications in Western Blotting for Quantifying Dystrophin Rescue

06 January 25 Useful information ، Terminology ، Tools and Materials ، Anti-dystrophin Antibodies DuchenneMuscularDystrophy ، GeneTherapy ، ExonSkipping ، دیستروفی_عضلانی_دوشن ، DMDResearch ، Dystrophin ، ژن‌درمانی ، حذف_اگزون ، دیستروفین ، WesternBlotting ، Antibodies ، ProteinQuantification ، وسترن_بلات ، آنتی‌بادی‌ها
Anti-dystrophin Antibodies and Their Applications in Western Blotting for Quantifying Dystrophin Rescue
Dystrophin, a crucial protein for maintaining muscle integrity, is severely deficient in Duchenne Muscular Dystrophy (DMD) patients. Quantifying dystrophin restoration following therapeutic interventions is essential for evaluating treatment efficacy. Western blotting, a widely used protein analysis technique, plays a pivotal role in this quantification, with anti-dystrophin antibodies being central to its success.   Anti-dystrophin antibodies are specifically designed to detect and bind dystrophin protein, making them indispensable for Western blot …
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Systemic delivery of an AAV9 exonskipping vector significantly improves or prevents features of Duchenne muscular dystrophy in the Dup2 mouse

05 January 25 Articles ، Kevin Flanigan ، Robert Weiss DMD ، GeneTherapy ، ExonSkipping ، دیستروفی_عضلانی_دوشن ، حذف_اگزون ، ژن_درمانی ، DystrophinRestoration ، بازسازی_دیستروفین ، Dup2MouseModel ، AAV9 ، U7snRNA ، مدل_موش_Dup2
Systemic delivery of an AAV9 exonskipping vector significantly improves or prevents features of Duchenne muscular dystrophy in the Dup2 mouse
  Background: Duchenne muscular dystrophy (DMD) is a severe genetic disorder caused by mutations in the DMD gene. These mutations disrupt the dystrophin protein, essential for muscle function. Current treatments, like exon-skipping oligonucleotides, have limitations due to their short lifespan and need for frequent administration.   Objective: This study explored the use of a self-complementary adeno-associated virus (scAAV9) vector expressing U7 small nuclear RNA (snRNA) to target exon 2 of …
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Increase in Full-Length Dystrophin by Exon Skipping in Duchenne Muscular Dystrophy Patients with Single Exon Duplications: An Open-label Study

02 January 25 Articles ، Linda Pax Lowes ، Kevin Flanigan DuchenneMuscularDystrophy ، GeneTherapy ، ExonSkipping ، AntisenseOligonucleotides ، دیستروفی_عضلانی_دوشن ، درمان_ژنی ، الیگونوکلئوتید_آنتی_سنس ، Golodirsen ، Casimersen ، پرش_اگزون ، Dystrophin ، ClinicalTrial ، کازیمیرسن ، گولودیرسن
Increase in Full-Length Dystrophin by Exon Skipping in Duchenne Muscular Dystrophy Patients with Single Exon Duplications: An Open-label Study
1. Introduction Duchenne Muscular Dystrophy (DMD) is a severe genetic disorder predominantly affecting boys, with an incidence of approximately 1 in 5,000 male births. It is caused by mutations in the DMD gene that lead to disrupted production of dystrophin, a protein essential for muscle stability. Exon skipping is a therapeutic strategy that restores the reading frame of the mutated gene to enable dystrophin production. This study focuses on applying …
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Challenges of Assessing Exon 53 Skipping of the HumanDMD Transcript with Locked Nucleic Acid-ModifiedAntisense Oligonucleotides in a Mouse Modelfor Duchenne Muscular Dystrophy

02 January 25 Articles ، Annemieke Aartsma-Rus ، Anastasia Khvorova ، Masad J. Damha DMD ، ExonSkipping ، AntisenseTherapy ، حذف_اگزون ، DystrophinRestoration ، بازسازی_دیستروفین ، LNA ، PreclinicalStudy ، دیستروفی_دوشن ، الیگونوکلئوتید
Challenges of Assessing Exon 53 Skipping of the HumanDMD Transcript with Locked Nucleic Acid-ModifiedAntisense Oligonucleotides in a Mouse Modelfor Duchenne Muscular Dystrophy
  Duchenne muscular dystrophy (DMD) is a severe genetic disorder caused by mutations in the dystrophin gene, leading to muscle degeneration and early death. Antisense oligonucleotides (AONs) are promising therapeutic agents designed to skip faulty exons in the dystrophin gene and restore functional protein.   This study evaluated the efficiency of AONs targeting exon 53 of the dystrophin gene in a mouse model, using chemically modified AONs to enhance skipping …
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Next Generation Exon 51 Skipping Antisense Oligonucleotides for Duchenne Muscular Dystrophy

28 December 24 Articles ، Annemieke Aartsma-Rus ، Judith van Deutekom DuchenneMuscularDystrophy ، ExonSkipping ، دیستروفی_عضلانی_دوشن ، antisenseoligonucleotide ، پرش_اگزون ، AntisenseOligonucleotide ، DystrophinRestoration ، NextGenerationTherapies ، PreclinicalResearch ، الیگونوکلئوتیدآنتی_سنس ، بازگردانی_دیستروفین ، تحقیقات_پیش_بالینی
Next Generation Exon 51 Skipping Antisense Oligonucleotides for Duchenne Muscular Dystrophy
Antisense oligonucleotides (AONs) have emerged as a promising therapy for Duchenne Muscular Dystrophy (DMD), a severe neuromuscular disease caused by dystrophin deficiency. Early AON drugs like drisapersen and eteplirsen achieved limited success, leading researchers to develop more efficient next-generation AONs. This study focused on refining AONs for exon 51 skipping through advanced chemical modifications and identifying optimal target sites to enhance efficacy and safety.   Researchers screened over 100 AONs …
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Exon skipping for Duchenne muscular dystrophy: a systematic review and metaanalysis

08 December 24 Articles ، En Kimura ، Yuko Shimizu-Motohashi DMD ، DuchenneMuscularDystrophy ، ClinicalTrials ، ExonSkipping ، AntisenseOligonucleotides ، دیستروفی_عضلانی_دوشن ، Eteplirsen ، حذف_اگزون ، Drisapersen ، MetaAnalysis ، دریساپرزن ، متاآنالیز ، اتیپلیرسن ، کارآزمایی_بالینی
Exon skipping for Duchenne muscular dystrophy: a systematic review and metaanalysis
Exon skipping is a promising therapeutic strategy for Duchenne muscular dystrophy (DMD), a severe genetic disorder. By using antisense oligonucleotides (AOs), this method aims to restore a partially functional dystrophin protein. The study conducted a systematic review and meta-analysis of five randomized controlled trials (RCTs) involving 322 participants, focusing on two drugs: eteplirsen and drisapersen. The analysis evaluated outcomes such as the 6-minute walk test (6MWT), North Star Ambulatory Assessment …
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Exon-Skipping in Duchenne Muscular Dystrophy

05 December 24 Articles ، Eric P. Hoffman ، Paula R. Clemens ، Shin’ichi Takeda DuchenneMuscularDystrophy ، GeneTherapy ، ExonSkipping ، OligonucleotideTherapy ، دیستروفی_عضلانی_دوشن ، پرش_اگزون ، Dystrophin ، MuscleDisorders ، درمان_ژن_درمانی ، دیستروفین ، درمان_الیگونوکلئوتیدی ، اختلالات_عضلانی
Exon-Skipping in Duchenne Muscular Dystrophy
Duchenne Muscular Dystrophy (DMD) is a severe genetic disorder caused by mutations in the dystrophin gene on the X chromosome. These mutations disrupt the production of the dystrophin protein, crucial for muscle stability and function. This review focuses on exon-skipping therapy, which uses genetic techniques to restore partial dystrophin production, converting the severe DMD phenotype to a milder Becker Muscular Dystrophy (BMD)-like condition. Exon-skipping therapy involves antisense oligonucleotides (AONs) that …
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Exon skipping and dystrophin restoration in patientswith Duchenne muscular dystrophy after systemicphosphorodiamidate morpholino oligomer treatment:an open-label, phase 2, dose-escalation study

17 November 24 Articles ، Volker Straub ، Ryszard Kole ، Steve Wilton ، George Dickson ، Karen Anthony ، Francesco Muntoni ، Virginia Arechavala-Gomeza ، Kate Bushby ، Jennifer Morgan DuchenneMuscularDystrophy ، GeneTherapy ، ExonSkipping ، دیستروفی_عضلانی_دوشن ، پرش_اگزون ، DystrophinRestoration ، AVI4658 ، PMO ، ژن تراپی ، بازیابی_دیستروفین
Exon skipping and dystrophin restoration in patientswith Duchenne muscular dystrophy after systemicphosphorodiamidate morpholino oligomer treatment:an open-label, phase 2, dose-escalation study
This study explored the effects of AVI-4658, a phosphorodiamidate morpholino oligomer (PMO), on exon skipping and dystrophin restoration in Duchenne muscular dystrophy (DMD) patients. The open-label, phase 2, dose-escalation trial enrolled 19 boys aged 5-15, treated with doses ranging from 0.5 to 20 mg/kg weekly for 12 weeks. The main aim was to evaluate safety, with secondary goals to assess pharmacokinetics and the efficacy of exon 51 skipping and dystrophin …
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Dystrophin Restoration after Adeno-Associated Virus U7eMediated Dmd Exon Skipping Is Modulated by Muscular Exercise in the Severe D2-Mdx Duchenne Muscular Dystrophy Murine Model

17 November 24 Articles ، Capucine Trollet ، Arnaud Ferry DMD ، DuchenneMuscularDystrophy ، GeneTherapy ، ExonSkipping ، دیستروفی_عضلانی_دوشن ، AAV ، حذف_اگزون ، ژن_درمانی ، VoluntaryExercise ، MuscleDamage ، DystrophinRestoration ، آسیب_عضلانی ، بازسازی_دیستروفین
Dystrophin Restoration after Adeno-Associated Virus U7eMediated Dmd Exon Skipping Is Modulated by Muscular Exercise in the Severe D2-Mdx Duchenne Muscular Dystrophy Murine Model
  This study explores the impact of voluntary exercise on the effectiveness of a gene therapy approach for Duchenne muscular dystrophy (DMD) using the D2-mdx murine model. DMD is caused by mutations in the dystrophin gene, leading to muscle damage and impaired regeneration. The research uses adeno-associated virus (AAV)-mediated U7 snRNA to skip a mutation-containing exon and restore dystrophin production. D2-mdx mice were treated with AAV-U7 and allowed to run …
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