ArticleThe Journal of cell biology1996
Transgenic mdx mice expressing dystrophin with a deletion in the actin-binding domain display a "mild Becker" phenotype.
Article in The Journal of cell biology, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 85 citations in OpenAlex.
- The road toward AAV-mediated gene therapy of Duchenne muscular dystrophy.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Review
- Advanced Heart Failure Therapies in Neuromuscular Diseases.Current treatment options in cardiovascular medicine · 2024Article
- Turn-on protein switches for controlling actin binding in cells.Nature communications · 2024Article
- Turn-On Protein Switches for Controlling Actin Binding in Cells.bioRxiv : the preprint server for biology · 2023Article
- Microdystrophin Expression as a Surrogate Endpoint for Duchenne Muscular Dystrophy Clinical Trials.Human gene therapy · 2023Article
- Duchenne muscular dystrophy: disease mechanism and therapeutic strategies.Frontiers in physiology · 2023Review
- Comparison of dystrophin expression following gene editing and gene replacement in an aged preclinical DMD animal model.Molecular therapy : the journal of the American Society of Gene Therapy · 2022Article
- Large in-frame 5' deletions in DMD associated with mild Duchenne muscular dystrophy: Two case reports and a review of the literature.Neuromuscular disorders : NMD · 2019Review
- Development of Novel Micro-dystrophins with Enhanced Functionality.Molecular therapy : the journal of the American Society of Gene Therapy · 2019Article
- Dystrophin As a Molecular Shock Absorber.ACS nano · 2018Article
- Functional correction of dystrophin actin binding domain mutations by genome editing.JCI insight · 2017Article
- Heart transplantation in patients with dystrophinopathic cardiomyopathy: Review of the literature and personal series.Intractable & rare diseases research · 2017Review
- Deletion of exons 3-9 encompassing a mutational hot spot in the DMD gene presents an asymptomatic phenotype, indicating a target region for multiexon skipping therapy.Journal of human genetics · 2016Article
- Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice.Nature medicine · 2014Article
- Gene replacement therapies for duchenne muscular dystrophy using adeno-associated viral vectors.Current gene therapy · 2012Review
- Cardiac involvement in patients with muscular dystrophies: magnetic resonance imaging phenotype and genotypic considerations.Circulation. Cardiovascular imaging · 2011Review
- Post-Natal knockdown of fukutin-related protein expression in muscle by long-termRNA interference induces dystrophic pathology [corrected].The American journal of pathology · 2011Article
- Persistent expression of FLAG-tagged micro dystrophin in nonhuman primates following intramuscular and vascular delivery.Molecular therapy : the journal of the American Society of Gene Therapy · 2010Article
- Diverse roles of the actin cytoskeleton in striated muscle.Journal of muscle research and cell motility · 2009Review
- Viral-mediated gene therapy for the muscular dystrophies: successes, limitations and recent advances.Biochimica et biophysica acta · 2007Review
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
The functional significance of the actin-binding domain of dystrophin, the protein lacking in patients with Duchenne muscular dystrophy, has remained elusive. Patients with deletions of this domain (domain I) typically express low levels of the truncated protein. Whether the moderate to severe phenotypes associated with such deletions result from loss of an essential function, or from reduced levels of a functional protein, is unclear. To address this question, we have generated transgenic mice that express wild-type levels of a dystrophin deleted for the majority of the actin-binding domain. The transgene derived protein lacks amino acids 45-273, removing 2 of 3 in vitro identified actin interacting sites and part of hinge 1. Examination of the effect of this deletion in mice lacking wild-type dystrophin (mdx) suggests that a functional domain I is not essential for prevention of a dystrophic phenotype. However, in contrast to deletions in the central rod domain and to full-length dystrophin, both of which are functional at only 20% of wild-type levels, proteins with a deletion in domain I must be expressed at high levels to prevent a severe dystrophy. These results are also in contrast to the severe dystrophy resulting from truncation of the COOH-terminal domain that links dystrophin to the extracellular matrix. The mild phenotype observed in mice with domain I-deletions indicates that an intact actin-binding domain is not essential, although it does contribute to an important function of dystrophin. These studies also suggest the link between dystrophin and the subsarcolemmal cytoskeleton involves more than a simple attachment of domain I to actin filaments.
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