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The road toward AAV-mediated gene therapy of Duchenne muscular dystrophy

06 June 25 Articles ، DystroBlog | Neuromuscular Disease Research & News ، Jeffrey Chamberlain AAV-mediated gene therapy for Duchenne muscular dystrophy ، micro-dystrophin constructs in DMD gene therapy ، safety and efficacy of AAV-based gene delivery in DMD ، immunological response to AAV in Duchenne gene therapy ، systemic delivery of AAV vectors in muscular dystrophy ، preclinical models for DMD gene therapy testing ، FDA-approved trials for AAV-DMD treatments ، long-term expression of micro-dystrophin in muscle tissue ، challenges in dosing and delivery of AAV in DMD ، CRISPR vs AAV gene therapy approaches in dystrophinopathies
The road toward AAV-mediated gene therapy of Duchenne muscular dystrophy
This article reviews the evolution of AAV-mediated gene therapy for DMD, focusing on dystrophin structure, μDys engineering, systemic delivery strategies, clinical trial outcomes, and emerging solutions such as myotropic AAVs and gene editing platforms designed to overcome current limitations and enhance therapeutic efficacy.
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Natural history of Becker muscular dystrophy: a multicenter study of 225 patients

28 April 25 Akinori Nakamura ، DystroBlog | Neuromuscular Disease Research & News natural history of Becker muscular dystrophy ، genotype-phenotype correlation in BMD patients ، exon 45–55 deletion in Becker muscular dystrophy ، cardiac complications in Becker muscular dystrophy ، respiratory involvement in Becker muscular dystrophy patients ، CNS disorders associated with Becker muscular dystrophy ، progression of gait disturbance in BMD ، ventilator use in Becker muscular dystrophy ، biomarkers for cardiac dysfunction in BMD patients ، long-term outcomes in BMD based on DMD gene deletions
Natural history of Becker muscular dystrophy: a multicenter study of 225 patients
This multicenter cohort study of 225 Japanese patients investigated the natural history of Becker muscular dystrophy (BMD) and explored genotype-phenotype correlations. The findings revealed that the severity of skeletal, cardiac, and neurological involvement varies with the type of in-frame deletions in the DMD gene. Patients with exon 45–49 deletions showed more severe skeletal impairment, while those with exon 45–47 deletions maintained better respiratory function. These insights are crucial for guiding preventive care and therapeutic strategies in BMD management.
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The Persistence of Duchenne vs Becker Muscular Dystrophies: Vive la Difference?

28 April 25 Eric P. Hoffman ، DystroBlog | Neuromuscular Disease Research & News Dystroblog ، Nikilab.net ، دیستروبلاگ ، Becker muscular dystrophy microvariant mutations ، clinical differences between Duchenne and Becker muscular dystrophies ، dystrophin gene nonsense mutations and clinical severity ، natural history of Becker muscular dystrophy in Japan ، genotype-phenotype correlation in dystrophinopathies ، dystrophin expression levels and disease severity ، exon duplication mutations in Becker muscular dystrophy ، classification challenges in Becker and Duchenne muscular dystrophy ، dystrophinopathies continuum and clinical outcomes ، impact of pathogenic variant position in the DMD gene
The Persistence of Duchenne vs Becker Muscular Dystrophies: Vive la Difference?
This article reviews the differences between Duchenne and Becker muscular dystrophies. Although both are linked to mutations in the DMD gene, patients present with varying degrees of severity. The article highlights the importance of microvariants and mutation locations in disease outcomes and discusses the limitations of current diagnostic categories. It proposes the use of the term "dystrophinopathies" to better reflect the wide spectrum of symptoms.
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Conditional Dystrophin ablation causes profound effects on muscle development, neurobehavior, and extracellular matrix pathways

15 April 25 Articles ، DystroBlog | Neuromuscular Disease Research & News ، Matthew S Alexander ، Louis M. Kunkel ، Karyn Esser conditional dystrophin knockout mouse model ، dystrophin ablation in skeletal muscle ، Purkinje neuron-specific dystrophin deletion ، dystrophin and neurobehavioral deficits ، extracellular matrix dysregulation in DMD ، Duchenne muscular dystrophy gene therapy mouse model ، RNA-seq analysis in dystrophin-deficient muscle ، muscle regeneration after dystrophin loss ، Dp427m isoform function in muscle stem cells ، Cre-lox dystrophin deletion strategy ، muscle-specific dystrophin loss and fibrosis ، Dmd exon 52 conditional knockout in mice ، behavior changes in brain-specific Dmd KO mice ، ECM and cytokine gene expression in dystrophic muscle ، mild phenotype of postnatal dystrophin ablation
Conditional Dystrophin ablation causes profound effects on muscle development, neurobehavior, and extracellular matrix pathways
This study shows that deleting dystrophin specifically in muscle stem cells leads to major changes in muscle growth and behavior. It highlights a possible muscle-brain signaling axis with broad implications for DMD therapy.
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Enveloped viruses pseudotyped with mammalian myogenic cell fusogens target skeletal muscle for gene delivery

22 March 25 Articles ، Douglas Millay ، Christopher W Ward ، Jeffrey Chamberlain targeted gene therapy for Duchenne muscular dystrophy treatment ، engineered viruses delivering genes specifically to muscle tissue ، selective muscle cell targeting using Myomaker and Myomerger proteins ، pseudotyped lentiviral vectors for skeletal muscle gene therapy ، re-dosable viral vectors for safe and sustained gene expression ، fusion-protein-based gene delivery to regenerating muscle fibers ، immune-safe strategies for repeated muscle gene therapy injections ، muscle-specific gene therapy with minimized off-target effects ، restoring dystrophin expression in DMD using μDys gene delivery ، novel viral platforms for efficient and precise gene delivery to muscle
Enveloped viruses pseudotyped with mammalian myogenic cell fusogens target skeletal muscle for gene delivery
This study introduces muscle-specific pseudotyped viruses using natural fusion proteins (Myomaker & Myomerger) to deliver gene therapy directly and selectively to muscle tissue—offering new hope for muscular diseases like DMD.
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Recent developments and industry interest in gene therapy for duchenne muscular dystrophy

13 March 25 Articles ، Toshifumi Yokota Gene therapy for Duchenne muscular dystrophy ، CRISPR-based gene editing techniques ، micro-dystrophin therapy ، AAV vector-based treatment ، gene therapy safety challenges ، FDA approvals for gene therapy
Recent developments and industry interest in gene therapy for duchenne muscular dystrophy
Recent Developments and Industry Interest in Gene Therapy for Duchenne Muscular Dystrophy Introduction Duchenne muscular dystrophy (DMD) is an X-linked genetic disorder that causes progressive muscle degeneration. This condition is caused by mutations in the DMD gene, which encodes a crucial protein for muscle stability. Symptoms usually appear between ages 2 and 5, leading to muscle weakness and, eventually, respiratory or cardiac failure. While antisense oligonucleotides have been approved to …
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Antisense Oligonucleotides Conjugated with Lipophilic Compounds: Synthesis and In Vitro Evaluation of Exon Skipping in Duchenne Muscular Dystrophy

06 March 25 Articles Duchenne Muscular Dystrophy ، Exon skipping ، Duchenne muscular dystrophy ، antisense oligonucleotides ، exon skipping ، lipophilic conjugation ، ursodeoxycholic acid
Antisense Oligonucleotides Conjugated with Lipophilic Compounds: Synthesis and In Vitro Evaluation of Exon Skipping in Duchenne Muscular Dystrophy
This study examines how lipophilic-modified antisense oligonucleotides (ASOs) enhance exon skipping in Duchenne muscular dystrophy (DMD). The results show improved cellular uptake, nanoparticle formation, and higher exon-skipping efficiency, making these ASOs promising therapeutic candidates.
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In Silico Screening Based on Predictive Algorithms as a Design Tool for Exon Skipping Oligonucleotides in Duchenne Muscular Dystrophy

06 March 25 Articles ، Toshifumi Yokota ، Yusuke Echigoya ، Vincent Mouly ، Luis Garcia Duchenne Muscular Dystrophy ، Exon skipping ، Duchenne muscular dystrophy ، antisense oligonucleotides ، computational modeling ، efficacy prediction
In Silico Screening Based on Predictive Algorithms as a Design Tool for Exon Skipping Oligonucleotides in Duchenne Muscular Dystrophy
Duchenne muscular dystrophy (DMD) is a genetic disorder leading to muscle degeneration. This study introduces a predictive computational model for exon skipping therapy, achieving 89% accuracy for PMOs and 76% accuracy for 2’-O-Methyl RNA, aiding in oligonucleotide selection.
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A Timeless Reminder: A Biblical Call to Diligence and Productivity

10 February 25 Bible Biblical wisdom on diligence ، Proverbs 24:33-34 meaning ، Importance of hard work in the Bible ، Productivity and faith ، Overcoming laziness with biblical principles ، Christian motivation for work ، Lessons from Proverbs on success ، Biblical encouragement for diligence
A Timeless Reminder: A Biblical Call to Diligence and Productivity
While reviewing old notes, I found a powerful biblical reminder from Proverbs 24:33-34, which warns that idleness leads to poverty. This verse emphasizes the importance of diligence, perseverance, and productivity. Some sayings remain timeless, urging us to stay committed to our work and strive for success. It serves as a call to action, encouraging us to embrace discipline and purpose in our daily lives.
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Celebrating 10K+ Visits: Advancing Neuromuscular Research & Awareness

04 February 25 Useful information Neuromuscular research blog milestone ، 10K visits on Nikilab.net ، Raising awareness for dystrophy research ، Simplifying neuromuscular disease science ، Duchenne muscular dystrophy education ، Antisense therapy for neuromuscular diseases ، Cell therapy advancements in DMD ، Scientific outreach for rare diseases
Celebrating 10K+ Visits: Advancing Neuromuscular Research & Awareness
Nikilab.net has surpassed 10,000 blog visits, reinforcing our mission to simplify neuromuscular research for patients, families, and researchers. Covering dystrophy, cell therapy, and antisense approaches, our goal is to make complex science accessible, offering hope and knowledge to those affected by neuromuscular diseases. This milestone strengthens our commitment to advancing research and raising awareness, ensuring that every child with DMD matters.
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Renato Dulbecco and the Impact of Dulbecco’s Modified Eagle’s Medium (DMEM) on Cell Culture

14 January 25 Useful information ، Terminology ، Tools and Materials ، Renato Dulbecco Renato Dulbecco contributions to cell culture ، Dulbecco’s Modified Eagle’s Medium (DMEM) ، Nobel Prize in virology Renato Dulbecco ، DMEM in mammalian cell culture ، Cell culture media development ، History of DMEM in biomedical research ، Dulbecco’s impact on modern cell biology ، Oncovirus research and cell culture
Renato Dulbecco and the Impact of Dulbecco’s Modified Eagle’s Medium (DMEM) on Cell Culture
Renato Dulbecco, a Nobel Prize-winning virologist, revolutionized cell culture by developing Dulbecco’s Modified Eagle’s Medium (DMEM) in the 1950s. His modifications improved mammalian cell growth, making DMEM one of the most widely used media in biomedical research. Dulbecco’s contributions extend beyond cell culture, including pioneering studies on oncoviruses and cancer biology. His work remains fundamental to modern cell biology and medical advancements.
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Growth Media and Differentiation Media in Neuromuscular Labs

14 January 25 Useful information ، Terminology ، Tools and Materials ، Growth Media and Differentiation Media ، Renato Dulbecco Growth media vs. differentiation media ، Neuromuscular research culture media ، Skeletal muscle cell growth medium ، Myoblast differentiation into myotubes ، DMEM/F-12 for muscle cell culture ، Fetal bovine serum (FBS) in cell culture ، Heat-inactivated horse serum for differentiation ، Optimizing media for muscle cell research
Growth Media and Differentiation Media in Neuromuscular Labs
In neuromuscular research, growth media supports skeletal muscle cell proliferation, while differentiation media promotes myoblast fusion into myotubes. Growth media contains DMEM/F-12, FBS, and skeletal muscle supplements, whereas differentiation media replaces FBS with heat-inactivated horse serum for myotube formation. Proper media preparation ensures cell viability and stability, making it essential for studying neuromuscular diseases and muscle regeneration.
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Immortalized Skeletal Muscle Cells: Advancing DMD Research 

13 January 25 Useful information ، Terminology ، Tools and Materials ، Immortalized Skeletal Muscle Cells Immortalized skeletal muscle cells for DMD ، Duchenne muscular dystrophy cell models ، Exon-skipping research in neuromuscular diseases ، Human myoblast cell lines for DMD ، Kamel Mamchaoui myoblast research ، Preclinical DMD therapy studies ، Disease modeling in muscular dystrophy ، Dystrophin restoration in cell culture
Immortalized Skeletal Muscle Cells: Advancing DMD Research 
Immortalized skeletal muscle cells derived from healthy and DMD patients serve as reproducible models for neuromuscular research. These cells aid in studying disease mechanisms and evaluating exon-skipping therapies. A key contributor, Kamel Mamchaoui, developed DMD myoblast cell lines, enhancing preclinical research. These models support dystrophin restoration studies and therapeutic advancements, helping researchers refine potential treatments for Duchenne muscular dystrophy (DMD).
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