ArticleActa neuropathologica2015
The toxic effect of R350P mutant desmin in striated muscle of man and mouse.
Article in Acta neuropathologica, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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Who cites it
38 citing papers in PubMed, 78 citations in OpenAlex.
- Impaired Myogenic Differentiation Is a Shared Feature Across Genetic Myopathies.International journal of molecular sciences · 2026Review
- MALICoT: A pilot cross-sectional study analyzing the effects of power training and age on endomysium content and fiber area in the soleus muscle of adult males.Physiological reports · 2026Article
- Blockage of autophagy causes severe skeletal muscle disruption in a mouse model for myofibrillar myopathy 6.Nature communications · 2026Article
- R405W Desmin Knock-In Mice Highlight Alterations of Mitochondria, Protein Quality Control and Myofibrils in Myofibrillar Myopathy.Journal of cachexia, sarcopenia and muscle · 2025Article
- Quantification of Exercise-Induced Sarcomeric Damage in R349P Desmin Knock-In Mice: A New Approach in Myofibrillar Myopathy Research.Neuropathology and applied neurobiology · 2025Article
- Bioinformatics-based screening of genes associated with dilated cardiomyopathy.Journal of thoracic disease · 2025Article
- The deubiquitinase USP5 prevents accumulation of protein aggregates in cardiomyocytes.Science advances · 2025Article
- In Vivo Approaches to Understand Arrhythmogenic Cardiomyopathy: Perspectives on Animal Models.Cells · 2024Review
- Desmin Knock-Out Cardiomyopathy: A Heart on the Verge of Metabolic Crisis.International journal of molecular sciences · 2022Article
- Skeletal Muscle Dysfunction in Experimental Pulmonary Hypertension.International journal of molecular sciences · 2022Article
- Animal Models to Study Cardiac Arrhythmias.Circulation research · 2022Review
- Desmin Modulates Muscle Cell Adhesion and Migration.Frontiers in cell and developmental biology · 2022Article
- The Desmin MutationBiomedicines · 2021Article
- A mutation in desmin makes skeletal muscle less vulnerable to acute muscle damage after eccentric loading in rats.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2021Article
- Skeletal Muscle Mitochondria Dysfunction in Genetic Neuromuscular Disorders with Cardiac Phenotype.International journal of molecular sciences · 2021Review
- Generation of desminopathy in rats using CRISPR-Cas9.Journal of cachexia, sarcopenia and muscle · 2020Article
- Absence of Desmin in Myofibers of the Zebrafish Extraocular Muscles.Translational vision science & technology · 2020Article
- Growing Old Too Early: Skeletal Muscle Single Fiber Biomechanics in Ageing R349P Desmin Knock-in Mice Using theInternational journal of molecular sciences · 2020Article
- Mix and (mis-)match - The mechanosensing machinery in the changing environment of the developing, healthy adult and diseased heart.Biochimica et biophysica acta. Molecular cell research · 2020Review
- Lack of Desmin in Mice Causes Structural and Functional Disorders of Neuromuscular Junctions.Frontiers in molecular neuroscience · 2020Article
Corrections and comments
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Authors and funding
21 authors at 9 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations of the human desmin gene on chromosome 2q35 cause autosomal dominant, autosomal recessive and sporadic forms of protein aggregation myopathies and cardiomyopathies. We generated R349P desmin knock-in mice, which harbor the ortholog of the most frequently occurring human desmin missense mutation R350P. These mice develop age-dependent desmin-positive protein aggregation pathology, skeletal muscle weakness, dilated cardiomyopathy, as well as cardiac arrhythmias and conduction defects. For the first time, we report the expression level and subcellular distribution of mutant versus wild-type desmin in our mouse model as well as in skeletal muscle specimens derived from human R350P desminopathies. Furthermore, we demonstrate that the missense-mutant desmin inflicts changes of the subcellular localization and turnover of desmin itself and of direct desmin-binding partners. Our findings unveil a novel principle of pathogenesis, in which not the presence of protein aggregates, but disruption of the extrasarcomeric intermediate filament network leads to increased mechanical vulnerability of muscle fibers. These structural defects elicited at the myofiber level finally impact the entire organ and subsequently cause myopathy and cardiomyopathy.
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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.