Dystrophin ≈ Dystrophin
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Circ-ZNF609 Is a Circular RNA that Can Be Translated and Functions in Myogenesis Open
Circular RNAs (circRNAs) constitute a family of transcripts with unique structures and still largely unknown functions. Their biogenesis, which proceeds via a back-splicing reaction, is fairly well characterized, whereas their role in the …
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Gene editing restores dystrophin expression in a canine model of Duchenne muscular dystrophy Open
Gene editing and muscular dystrophy Duchenne muscular dystrophy (DMD) is characterized by progressive muscle weakness and a shortened life span. The disease is caused by mutations that reduce or prevent expression of dystrophin, an essenti…
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Eteplirsen in the treatment of Duchenne muscular dystrophy Open
Duchenne muscular dystrophy is a fatal neuromuscular disorder affecting around one in 3,500-5,000 male births that is characterized by progressive muscular deterioration. It is inherited in an X-linked recessive fashion and is caused by lo…
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Assessment of Systemic Delivery of rAAVrh74.MHCK7.micro-dystrophin in Children With Duchenne Muscular Dystrophy Open
ClinicalTrials.gov Identifier: NCT03375164.
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The importance of genetic diagnosis for Duchenne muscular dystrophy Open
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy are caused by mutations in the dystrophin-encoding DMD gene. Large deletions and duplications are most common, but small mutations have been found as well. Having a correct di…
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Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophy Open
This study provides Class I evidence that golodirsen is safe and Class IV evidence that it induces exon skipping and novel dystrophin as confirmed by 3 different assays.
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Safety, Tolerability, and Efficacy of Viltolarsen in Boys With Duchenne Muscular Dystrophy Amenable to Exon 53 Skipping Open
ClinicalTrials.gov Identifier: NCT02740972.
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Single-cut genome editing restores dystrophin expression in a new mouse model of muscular dystrophy Open
Single-cut correction of a dystrophin gene mutation with CRISPR/Cas9 restored dystrophin expression in skeletal and cardiac muscles in a mouse model of Duchenne muscular dystrophy.
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CRISPR-Cas9 corrects Duchenne muscular dystrophy exon 44 deletion mutations in mice and human cells Open
A mouse model with a common human DMD mutation was created and corrected by CRISPR-Cas9 gene editing.
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CRISPR-Cpf1 correction of muscular dystrophy mutations in human cardiomyocytes and mice Open
CRISPR-Cpf1–mediated correction of Duchenne muscular dystrophy mutations in human cells and a mouse model.
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Precise correction of Duchenne muscular dystrophy exon deletion mutations by base and prime editing Open
Base and prime genome editing correct Duchenne muscular dystrophy mutations to restore dystrophin in mice and human cells.
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Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy Open
Duchenne muscular dystrophy (DMD) is a muscular dystrophy with high incidence of learning and behavioural problems and is associated with neurodevelopmental disorders. To gain more insights into the role of dystrophin in this cognitive phe…
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Gene Therapy for Duchenne Muscular Dystrophy Open
Duchenne muscular dystrophy (DMD) is an X-linked, muscle wasting disease that affects 1 in 5000 males. Affected individuals become wheelchair bound by the age of twelve and eventually die in their third decade due to respiratory and cardia…
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CRISPR Correction of Duchenne Muscular Dystrophy Open
The ability to efficiently modify the genome using CRISPR technology has rapidly revolutionized biology and genetics and will soon transform medicine. Duchenne muscular dystrophy (DMD) represents one of the first monogenic disorders that h…
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Delandistrogene Moxeparvovec: First Approval Open
Declarations Funding The preparation of this review was not supported by any external funding. Authorship and Conflict of interest During the peer review process the manufacturer of the agent under review was offered an opportunity to comm…
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Development of Exon Skipping Therapies for Duchenne Muscular Dystrophy: A Critical Review and a Perspective on the Outstanding Issues Open
Duchenne muscular dystrophy (DMD) is a rare, severe, progressive muscle-wasting disease leading to disability and premature death. Patients lack the muscle membrane-stabilizing protein dystrophin. Antisense oligonucleotide (AON)-mediated e…
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Pharmacological advances for treatment in Duchenne muscular dystrophy Open
Duchenne muscular dystrophy (DMD) is a lethal, X-linked muscle-wasting disease caused by lack of dystrophin, essential for muscle fibre integrity. Despite extensive pre-clinical studies, development of an effective treatment has proved cha…
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Enhanced CRISPR-Cas9 correction of Duchenne muscular dystrophy in mice by a self-complementary AAV delivery system Open
Self-complementary AAV-packaged CRISPR-Cas9 genome editing components rescue Duchenne muscular dystrophy.
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Natural disease history of the <i>D2‐mdx</i> mouse model for Duchenne muscular dystrophy Open
The C57BL/10ScSn‐ Dmd mdx /J (BL10 ‐mdx ) mouse has been the most commonly used model for Duchenne muscular dystrophy (DMD) for decades. Their muscle dysfunction and pathology is, however, less severe than in patients with DMD, which compl…
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Therapeutic Strategies for Duchenne Muscular Dystrophy: An Update Open
Neuromuscular disorders encompass a heterogeneous group of conditions that impair the function of muscles, motor neurons, peripheral nerves, and neuromuscular junctions. Being the most common and most severe type of muscular dystrophy, Duc…
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The golden retriever model of Duchenne muscular dystrophy Open
Duchenne muscular dystrophy (DMD) is an X-linked disease caused by mutations in the DMD gene and loss of the protein dystrophin. The absence of dystrophin leads to myofiber membrane fragility and necrosis, with eventual muscle atrophy and …
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Degenerative and regenerative pathways underlying Duchenne muscular dystrophy revealed by single-nucleus RNA sequencing Open
Significance Skeletal muscle is composed of multinucleated myofibers that are essential for movement and metabolism. Duchenne muscular dystrophy (DMD) is a devastating disease that is caused by the lack of the dystrophin protein, which mai…
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In Vivo Genome Editing Restores Dystrophin Expression and Cardiac Function in Dystrophic Mice Open
Rationale: Duchenne muscular dystrophy is a severe inherited form of muscular dystrophy caused by mutations in the reading frame of the dystrophin gene disrupting its protein expression. Dystrophic cardiomyopathy is a leading cause of deat…
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Safety, tolerability, and pharmacokinetics of casimersen in patients with <span>D</span>uchenne muscular dystrophy amenable to exon <span>45</span> skipping: A randomized, double‐blind, placebo‐controlled, dose‐titration trial Open
Introduction/Aims Duchenne muscular dystrophy (DMD) is caused by mutations in the DMD gene resulting in the absence of dystrophin. Casimersen is a phosphorodiamidate morpholino oligomer designed to bypass frameshift DMD mutations and produ…
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Cardiac Pathophysiology and the Future of Cardiac Therapies in Duchenne Muscular Dystrophy Open
Duchenne muscular dystrophy (DMD) is a devastating disease featuring skeletal muscle wasting, respiratory insufficiency, and cardiomyopathy. Historically, respiratory failure has been the leading cause of mortality in DMD, but recent impro…
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Early myopathy in Duchenne muscular dystrophy is associated with elevated mitochondrial H<sub>2</sub>O<sub>2</sub> emission during impaired oxidative phosphorylation Open
Background Muscle wasting and weakness in Duchenne muscular dystrophy (DMD) causes severe locomotor limitations and early death due in part to respiratory muscle failure. Given that current clinical practice focuses on treating secondary c…
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Humanizing the mdx mouse model of DMD: the long and the short of it Open
Duchenne muscular dystrophy (DMD) is a common fatal heritable myopathy, with cardiorespiratory failure occurring by the third decade of life. There is no specific treatment for DMD cardiomyopathy, in large part due to a lack of understandi…
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Current and emerging treatment strategies for Duchenne muscular dystrophy Open
Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy in childhood. It is caused by mutations of the DMD gene, leading to progressive muscle weakness, loss of independent ambulation by early teens, and premature d…
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Use of capillary Western immunoassay (Wes) for quantification of dystrophin levels in skeletal muscle of healthy controls and individuals with Becker and Duchenne muscular dystrophy Open
Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by progressive weakness of the skeletal and cardiac muscles. This X-linked disorder is caused by open reading frame disrupting mutations in the DMD gene, resulting …
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Duchenne muscular dystrophy: disease mechanism and therapeutic strategies Open
Duchenne muscular dystrophy (DMD) is a severe, progressive, and ultimately fatal disease of skeletal muscle wasting, respiratory insufficiency, and cardiomyopathy. The identification of the dystrophin gene as central to DMD pathogenesis ha…