ReviewJournal of neuromuscular diseases2017
Myofibrillar Myopathies: New Perspectives from Animal Models to Potential Therapeutic Approaches.
Review in Journal of neuromuscular diseases, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 43 citations in OpenAlex.
- CryAB-driven amyloidogenesis iniScience · 2026Article
- Blockage of autophagy causes severe skeletal muscle disruption in a mouse model for myofibrillar myopathy 6.Nature communications · 2026Article
- Recent advances in the clinical spectrum and pathomechanisms associated with X-linked myopathy with excessive autophagy and otherJournal of neuromuscular diseases · 2025Review
- SMN Deficiency Induces an Early Non-Atrophic Myopathy with Alterations in the Contractile and Excitatory Coupling Machinery of Skeletal Myofibers in the SMN∆7 Mouse Model of Spinal Muscular Atrophy.International journal of molecular sciences · 2024Article
- Desmin gene expression is not ubiquitous in all upper airway myofibers and the pattern differs between healthy and sleep apnea subjects.European journal of medical research · 2024Article
- Roles of dystonin isoforms in the maintenance of neural, muscle, and cutaneous tissues.Anatomical science international · 2024Review
- Identification of CryAB as a target of NUAK kinase activity in Drosophila muscle tissue.Genetics · 2023Article
- A conserved STRIPAK complex is required for autophagy in muscle tissue.Molecular biology of the cell · 2023Article
- Human MutatedInternational journal of molecular sciences · 2023Article
- Fibin regulates cardiomyocyte hypertrophy and causes protein-aggregate-associated cardiomyopathyFrontiers in molecular biosciences · 2023Article
- The importance of intermediate filaments in the shape maintenance of myoblast model tissues.eLife · 2022Article
- Rare clinical phenotype of filaminopathy presenting as restrictive cardiomyopathy and myopathy in childhood.Orphanet journal of rare diseases · 2022Article
- Article
- Desmin Modulates Muscle Cell Adhesion and Migration.Frontiers in cell and developmental biology · 2022Article
- Article
- Article
- Maintenance of type 2 glycolytic myofibers with age by Mib1-Actn3 axis.Nature communications · 2021Article
- Transcriptome Profiling Associated with Carcass Quality of Loin Muscles in Crossbred Pigs.Animals : an open access journal from MDPI · 2020Article
- Drosophila NUAK functions with Starvin/BAG3 in autophagic protein turnover.PLoS genetics · 2020Article
- Skeletal muscle in aged mice reveals extensive transformation of muscle gene expression.BMC genetics · 2018Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Myofibrillar myopathies (MFMs) are muscular disorders involving proteins that play a role in the structure, maintenance processes and protein quality control mechanisms closely related to the Z-disc in the muscular fibers. MFMs share common histological characteristics including progressive disorganization of the interfibrillar network and protein aggregation. Currently no treatment is available. In this review, we describe first clinical symptoms associated with mutations of the six genes (DES, CRYAB, MYOT, ZASP, FLNC and BAG3) primary involved in MFM and defining the origin of this pathology. As mechanisms determining the aetiology of the disease remain unclear yet, several research teams have developed animal models from invertebrates to mammalians species. Thus we describe here these different models that often recapitulate human clinical symptoms. Therefore they are very useful for deeper studies to understand early molecular and progressive mechanisms determining the pathology. Finally in the last part, we emphasize on the potential therapeutic approaches for MFM that could be conducted in the future. In conclusion, this review offers a link from patients to future therapy through the use of MFMs animal models.
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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.