ArticlePloS one2011
Increased muscle stress-sensitivity induced by selenoprotein N inactivation in mouse: a mammalian model for SEPN1-related myopathy.
Article in PloS one, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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Who cites it
36 citing papers in PubMed, 75 citations in OpenAlex.
- Genetics of selenoproteins and selenoprotein metabolism - An overview of current concepts and emerging aspects.Redox biology · 2026Review
- Selenoprotein N and SEPN1-Related Myopathies: Mechanisms, Models, and Therapeutic Perspectives.Biomolecules · 2026Review
- Zebrafish and cellular models of SELENON-Congenital myopathy exhibit novel embryonic and metabolic phenotypes.Skeletal muscle · 2025Article
- Whole-genome resequencing revealed the genetic diversity and body weight-related genes of Gannan yak.Frontiers in veterinary science · 2025Article
- Loss of SELENOW aggravates muscle loss with regulation of protein synthesis and the ubiquitin-proteasome system.Science advances · 2024Article
- Impaired Upper Airway Muscle Function with Excessive or Deficient Dietary Intake of Selenium in Rats.Antioxidants (Basel, Switzerland) · 2024Article
- "Alphabet" Selenoproteins: Their Characteristics and Physiological Roles.International journal of molecular sciences · 2023Review
- Defining and identifying satellite cell-opathies within muscular dystrophies and myopathies.Experimental cell research · 2022Article
- Pathogenic Variants in Selenoproteins and Selenocysteine Biosynthesis Machinery.International journal of molecular sciences · 2021Review
- Paraspinal muscle pathophysiology associated with low back pain and spine degenerative disorders.JOR spine · 2021Review
- Redox Homeostasis in Muscular Dystrophies.Cells · 2021Review
- Review
- Defective endoplasmic reticulum-mitochondria contacts and bioenergetics in SEPN1-related myopathy.Cell death and differentiation · 2021Article
- The Neurobiology of Selenium: Looking Back and to the Future.Frontiers in neuroscience · 2021Review
- The clinical, histologic, and genotypic spectrum ofNeurology · 2020Article
- Dietary Selenium Intakes and Musculoskeletal Function in Very Old Adults: Analysis of the Newcastle 85+ Study.Nutrients · 2020Article
- Tolerance to Selenoprotein Loss Differs between Human and Mouse.Molecular biology and evolution · 2020Article
- Cored in the act: the use of models to understand core myopathies.Disease models & mechanisms · 2019Review
- Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies.Human mutation · 2019Article
- QuantiMus: A Machine Learning-Based Approach for High Precision Analysis of Skeletal Muscle Morphology.Frontiers in physiology · 2019Review
Corrections and comments
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Authors and funding
14 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Selenium is an essential trace element and selenoprotein N (SelN) was the first selenium-containing protein shown to be directly involved in human inherited diseases. Mutations in the SEPN1 gene, encoding SelN, cause a group of muscular disorders characterized by predominant affection of axial muscles. SelN has been shown to participate in calcium and redox homeostasis, but its pathophysiological role in skeletal muscle remains largely unknown. To address SelN function in vivo, we generated a Sepn1-null mouse model by gene targeting. The Sepn1(-/-) mice had normal growth and lifespan, and were macroscopically indistinguishable from wild-type littermates. Only minor defects were observed in muscle morphology and contractile properties in SelN-deficient mice in basal conditions. However, when subjected to challenging physical exercise and stress conditions (forced swimming test), Sepn1(-/-) mice developed an obvious phenotype, characterized by limited motility and body rigidity during the swimming session, as well as a progressive curvature of the spine and predominant alteration of paravertebral muscles. This induced phenotype recapitulates the distribution of muscle involvement in patients with SEPN1-Related Myopathy, hence positioning this new animal model as a valuable tool to dissect the role of SelN in muscle function and to characterize the pathophysiological process.
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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.