ArticleJournal of muscle research and cell motility2008
Mice expressing L345P mutant desmin exhibit morphological and functional changes of skeletal and cardiac mitochondria.
Article in Journal of muscle research and cell motility, 2008. 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, 46 citations in OpenAlex.
- Linking Cell Architecture to Mitochondrial Signaling in Neurodegeneration: The Role of Intermediate Filaments.International journal of molecular sciences · 2025Review
- TANGO2 binds crystallin alpha B and its loss causes desminopathy.Nature communications · 2025Article
- Enzymatically dissociated muscle fibers display rapid dedifferentiation and impaired mitochondrial calcium control.iScience · 2022Article
- Tmem65 is critical for the structure and function of the intercalated discs in mouse hearts.Nature communications · 2022Article
- Skeletal Muscle Mitochondria Dysfunction in Genetic Neuromuscular Disorders with Cardiac Phenotype.International journal of molecular sciences · 2021Review
- Cardiac-Specific Deletion of Orai3 Leads to Severe Dilated Cardiomyopathy and Heart Failure in Mice.Journal of the American Heart Association · 2021Article
- Generation of desminopathy in rats using CRISPR-Cas9.Journal of cachexia, sarcopenia and muscle · 2020Article
- Genetic Animal Models for Arrhythmogenic Cardiomyopathy.Frontiers in physiology · 2020Review
- Molecular insights into cardiomyopathies associated with desmin (DES) mutations.Biophysical reviews · 2018Review
- Myofibrillar Myopathies: New Perspectives from Animal Models to Potential Therapeutic Approaches.Journal of neuromuscular diseases · 2017Review
- Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue.Acta neuropathologica · 2016Article
- Review
- Voltage-Dependent Anion Channel 1(VDAC1) Participates the Apoptosis of the Mitochondrial Dysfunction in Desminopathy.PloS one · 2016Article
- The toxic effect of R350P mutant desmin in striated muscle of man and mouse.Acta neuropathologica · 2015Article
- The specificity of the interaction between αB-crystallin and desmin filaments and its impact on filament aggregation and cell viability.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2013Article
- Viral-mediated expression of desmin mutants to create mouse models of myofibrillar myopathy.Skeletal muscle · 2013Article
- N-acetyl-L-cysteine prevents stress-induced desmin aggregation in cellular models of desminopathy.PloS one · 2013Article
- Desminopathies: pathology and mechanisms.Acta neuropathologica · 2013Review
- Delineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disorders: Thematic Review Series: Genetics of Human Lipid Diseases.Journal of lipid research · 2012Review
- Desmin-related cardiomyopathy: an unfolding story.American journal of physiology. Heart and circulatory physiology · 2011Review
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Desmin mutations underlie inherited myopathies/cardiomyopathies with varying severity and involvement of the skeletal and cardiac muscles. We developed a transgenic mouse model expressing low level of the L345P desmin mutation (DESMUT mice) in order to uncover changes in skeletal and cardiac muscles caused by this mutation. The most striking ultrastructural changes in muscle from DESMUT mice were mitochondrial swelling and vacuolization. The mitochondrial Ca(2+) level was significantly increased in skeletal and cardiac myocytes from DESMUT mice compared to wild type cells during and after contractions. In isolated DESMUT soleus muscles, contractile function and recovery from fatigue were impaired. A SHIRPA screening test for neuromuscular performance demonstrated decreased motor function in DESMUT compared to WT mice. Echocardiographic changes in DESMUT mice included left ventricular wall hypertrophy and a decreased left ventricular chamber dimension. The results imply that low levels of L345P desmin acts, at least partially, by a dominant negative effect on mitochondria.
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Registered trials
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.