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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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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From Cryptic Toward Canonical Pre-mRNA Splicing in Pompe Disease: a Pipeline for the Development of Antisense Oligonucleotides

16 November 24 Articles ، Pim Pijnappel GeneTherapy ، AntisenseOligonucleotides ، PersonalizedMedicine ، ژن_درمانی ، SplicingCorrection ، CrypticSpliceSites ، GAAGene ، PompeDisease ، RNAAnalysis ، بیماری_پمپ ، الیگونوکلئوتیدهای_ضدحس ، جایگاه_برش_مخفی
From Cryptic Toward Canonical Pre-mRNA Splicing in Pompe Disease: a Pipeline for the Development of Antisense Oligonucleotides
This study addresses the challenges of aberrant pre-mRNA splicing in Pompe disease, caused by pathogenic variants in the acid α-glucosidase (GAA) gene. These variants often lead to the use of cryptic splice sites, resulting in disrupted protein production. The research proposes a pipeline to identify these splicing defects and correct them using antisense oligonucleotides (AONs).   The team developed a splicing assay to detect aberrant splicing patterns in patient-derived fibroblasts. …
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Direct Reprogramming of Human DMD Fibroblasts into Myotubes for In Vitro Evaluation of Antisense-Mediated Exon Skipping and Exons 45–55 Skipping Accompanied by Rescue of Dystrophin Expression

15 November 24 Articles ، Toshifumi Yokota DuchenneMuscularDystrophy ، GeneTherapy ، ExonSkipping ، دیستروفی_عضلانی_دوشن ، AntisenseTherapy ، Dystrophin ، درمان_آنتی‌سنس ، FibroblastReprogramming ، PhosphorodiamidateMorpholinoOligomer ، Myotube ، MyoD ، MuscleCellModel ، مورفولینو ، ژن_درمانی ، میوتیوب
Direct Reprogramming of Human DMD Fibroblasts into Myotubes for In Vitro Evaluation of Antisense-Mediated Exon Skipping and Exons 45–55 Skipping Accompanied by Rescue of Dystrophin Expression
1. Background and Purpose: Antisense oligonucleotide (AO)-mediated exon skipping is a promising strategy for treating genetic disorders like Duchenne Muscular Dystrophy (DMD). This method alters dystrophin pre-mRNA splicing to create a shorter but functional protein, potentially converting severe DMD into a milder Becker Muscular Dystrophy (BMD) phenotype. The paper highlights the significance of skipping exons 45–55, a common mutation area that could help nearly half of DMD patients.   2. …
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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 DMD ، DuchenneMuscularDystrophy ، GeneTherapy ، BeckerMuscularDystrophy ، ExonSkipping ، antisenseoligonucleotide ، الیگونوکلئوتید_آنتی_سنس ، دیستروفی_عضلانی_بکر ، پرش_اگزون ، AntisenseOligonucleotide ، MultipleExonSkipping ، پرش_اگزون_چندگانه
Multiple Exon Skipping in the Duchenne Muscular Dystrophy Hot Spots: Prospects and Challenges
The paper titled "Multiple Exon Skipping in the Duchenne Muscular Dystrophy Hot Spots: Prospects and Challenges" explores an advanced therapeutic strategy for treating Duchenne Muscular Dystrophy (DMD), a severe genetic disorder caused by mutations in the dystrophin gene. This mutation leads to the absence of functional dystrophin protein, which is essential for maintaining muscle integrity. One emerging treatment method involves antisense oligonucleotide (AO)-mediated exon skipping, where specific exons are skipped …
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Casimersen for Duchenne muscular dystrophy

15 October 24 Articles ، Toshifumi Yokota DuchenneMuscularDystrophy ، GeneTherapy ، ExonSkipping ، دیستروفی_عضلانی_دوشن ، AntisenseTherapy ، Casimersen ، ژن‌درمانی ، Amondys45 ، کاسیمرسن ، آنتی‌سنس_تراپی
Casimersen for Duchenne muscular dystrophy
Duchenne Muscular Dystrophy (DMD) is a severe genetic disorder affecting males, characterized by muscle degeneration and early death. Antisense-mediated exon skipping therapy offers a new hope by producing a truncated but functional dystrophin protein. Casimersen (Amondys 45) specifically targets exon 45 of the dystrophin gene, which applies to about 8% of DMD patients. The drug was approved by the FDA in 2021, based on its promising preclinical and phase I/II …
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