ArticleJournal of toxicologic pathology2012
Dysferlin and animal models for dysferlinopathy.
Article in Journal of toxicologic pathology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 49 citations in OpenAlex.
- Recent advances in immunological mechanisms and murine disease models of idiopathic inflammatory myopathies.Inflammation and regeneration · 2025Review
- Article
- Limb Girdle Muscular Dystrophy Type 2B (LGMD2B): Diagnosis and Therapeutic Possibilities.International journal of molecular sciences · 2024Review
- The Dysferlinopathies Conundrum: Clinical Spectra, Disease Mechanism and Genetic Approaches for Treatments.Biomolecules · 2024Review
- Portrait of Dysferlinopathy: Diagnosis and Development of Therapy.Journal of clinical medicine · 2023Review
- Characterization of the Multiple Domains of Pex30 Involved in Subcellular Localization of the Protein and Regulation of Peroxisome Number.Cell biochemistry and biophysics · 2023Article
- Analysis of Dysferlin Direct Interactions with Putative Repair Proteins Links Apoptotic Signaling to CaInternational journal of molecular sciences · 2023Article
- Mutation at a new allele of the dysferlin gene causes Miyoshi myopathy: A case report.Journal of musculoskeletal & neuronal interactions · 2021Article
- Loss of dysferlin or myoferlin results in differential defects in excitation-contraction coupling in mouse skeletal muscle.Scientific reports · 2021Article
- Phospholipids: Identification and Implication in Muscle Pathophysiology.International journal of molecular sciences · 2021Review
- A new dysferlin gene mutation in a Portuguese family with Miyoshi myopathy.BMJ case reports · 2021Article
- Heart disease in a mutant mouse model of spontaneous eosinophilic myocarditis maps to three loci.BMC genomics · 2019Article
- Faster regeneration associated to high expression of Fam65b and Hdac6 in dysferlin-deficient mouse.Journal of molecular histology · 2019Article
- Dysferlin deficiency alters lipid metabolism and remodels the skeletal muscle lipidome in mice.Journal of lipid research · 2019Article
- Identification of Novel Antisense-Mediated Exon Skipping Targets in DYSF for Therapeutic Treatment of Dysferlinopathy.Molecular therapy. Nucleic acids · 2018Article
- Increased nonHDL cholesterol levels cause muscle wasting and ambulatory dysfunction in the mouse model of LGMD2B.Journal of lipid research · 2018Article
- Serum exosomes can restore cellular functionTheranostics · 2018Article
- Novel duplication mutation of the DYSF gene in a Pakistani family with Miyoshi Myopathy.Saudi medical journal · 2017Article
- Structure-Based Designed Nano-Dysferlin Significantly Improves Dysferlinopathy in BLA/J Mice.Molecular therapy : the journal of the American Society of Gene Therapy · 2017Article
- Neuromuscular electrical stimulation promotes development in mice of mature human muscle from immortalized human myoblasts.Skeletal muscle · 2016Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Dysferlin (DYSF) is involved in the membrane-repair process, in the intracellular vesicle system and in T-tubule development in skeletal muscle. It interacts with mitsugumin 53, annexins, caveolin-3, AHNAK, affixin, S100A10, calpain-3, tubulin and dihydropyridine receptor. Limb-girdle muscular dystrophy 2B (LGMD2B) and Miyoshi myopathy (MM) are muscular dystrophies associated with recessively inherited mutations in the DYSF gene. The diseases are characterized by weakness and muscle atrophy that progress slowly and symmetrically in the proximal muscles of the limb girdles. LGMD2B and MM, which are collectively termed "dysferlinopathy", both lead to abnormalities in vesicle traffic and membrane repair at the plasma membrane in muscle fibers. SJL/J (SJL) and A/J mice are naturally occurring animal models for dysferlinopathy. Since there has been no an approach to therapy for dysferlinopathy, the immediate development of a therapeutic method for this genetic disorder is desirable. The murine models are useful in verification experiments for new therapies and they are valuable tools for identifying factors that accelerate dystrophic changes in skeletal muscle. It could be possible that the genetic or immunological background in SJL or A/J mice could modify muscle damage in experiments involving these models, because SJL and A/J mice show differences in the progress and prevalent sites of skeletal muscle lesions as well as in the gene-expression profiles of their skeletal muscle. In this review, we provide up-to-date information on the function of dysferlin, the development of possible therapies for muscle dystrophies (including dysferlinopathy) and the detection of new therapeutic targets for dysferlinopathy by means of experiments using animal models for dysferlinopathy.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.