ArticleEuropean journal of translational myology2022
Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies.
Article in European journal of translational myology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 62 papers, 2 of them syntheses that pooled it.
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Who cites it
62 citing papers in PubMed, 2 syntheses or guidelines pooled it, 99 citations in OpenAlex.
- Comprehensive Analysis of Uric Acid and Myasthenia Gravis: IGF1R as a Protective Factor and Potential Therapeutic Target.CNS neuroscience & therapeutics · 2025Pooled it
- Muscle MRI patterns for limb girdle muscle dystrophies: systematic review.Journal of neurology · 2023Pooled it
- The Primary Cilium: A New Player in Muscle Stem Cell Biology.Stem cell reviews and reports · 2026Review
- TDP-43 sustains satellite cells to maintain and regenerate skeletal muscle.Stem cell reports · 2026Article
- Targeted knockdown of Smn in muscle stem cells induces non-cell autonomous loss of motor neurons.Brain : a journal of neurology · 2026Article
- Large phenotypic variability with severe respiratory involvement inJournal of neuromuscular diseases · 2026Article
- Impaired Myogenic Differentiation Is a Shared Feature Across Genetic Myopathies.International journal of molecular sciences · 2026Review
- Junctions in Jeopardy: the neuromuscular junction is a selective pathological target in Charcot-Marie-Tooth disease.Mammalian genome : official journal of the International Mammalian Genome Society · 2026Review
- Single-Cell Transcriptomic Analysis Reveals Multicellular Coordination and Signaling Rewiring During Fetal Goat Skeletal Muscle Development.Animals : an open access journal from MDPI · 2026Article
- Review of the Pathology of Muscle in Amyotrophic Lateral Sclerosis.International journal of molecular sciences · 2026Review
- Epigenetic, Genetic, and Functional Germline Alterations ofCurrent issues in molecular biology · 2026Review
- Boric Acid Diminishes Sciatic Nerve Injury-Induced Apoptosis, Oxidative Stress, and Pain via The Block of TRPV1 Channel in Mice.Biological trace element research · 2026Article
- Biallelic PAX7 variants cause a novel Satellite Cell-opathy with progressive muscle involvement resembling facioscapulohumeral muscular dystrophy.Cell death & disease · 2026Article
- Muscle RING finger-1 facilitates skeletal muscle regeneration via regulating myoblast proliferation and differentiation.Journal of translational medicine · 2026Article
- Gne-Depletion in C2C12 Myoblasts Leads to Alterations in Glycosylation and Myopathogene Expression.Cells · 2026Article
- Composite dietary fiber alleviates obesity-induced skeletal muscle atrophy by regulating gut microbiota-derived short-chain fatty acids in mice.NPJ science of food · 2026Article
- Thyroid diseases and risk of peripheral neuropathy in a large population-based cohort: evidence from the UK Biobank.Frontiers in endocrinology · 2026Article
- Skeletal muscle reprogramming in peripheral nerve injury: mechanisms, therapeutic roles, and complication management.Experimental biology and medicine (Maywood, N.J.) · 2026Review
- Mutual reinforcement of lymphotoxin-driven myositis and impaired autophagy in murine muscle.Brain : a journal of neurology · 2025Article
- Unveiling the role of Jagged2 in hypoxic pulmonary arterial hypertension: A NOX2-mediated pathway.Journal of cell communication and signaling · 2025Article
2 more citing papers are in PubMed but not listed here.
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Neuromuscular disorders are a heterogeneous group of acquired or hereditary conditions that affect striated muscle function. The resulting decrease in muscle strength and motility irreversibly impacts quality of life. In addition to directly affecting skeletal muscle, pathogenesis can also arise from dysfunctional crosstalk between nerves and muscles, and may include cardiac impairment. Muscular weakness is often progressive and paralleled by continuous decline in the ability of skeletal muscle to functionally adapt and regenerate. Normally, the skeletal muscle resident stem cells, named satellite cells, ensure tissue homeostasis by providing myoblasts for growth, maintenance, repair and regeneration. We recently defined 'Satellite Cell-opathies' as those inherited neuromuscular conditions presenting satellite cell dysfunction in muscular dystrophies and myopathies (doi:10.1016/j.yexcr.2021.112906). Here, we expand the portfolio of Satellite Cell-opathies by evaluating the potential impairment of satellite cell function across all 16 categories of neuromuscular disorders, including those with mainly neurogenic and cardiac involvement. We explore the expression dynamics of myopathogenes, genes whose mutation leads to skeletal muscle pathogenesis, using transcriptomic analysis. This revealed that 45% of myopathogenes are differentially expressed during early satellite cell activation (0 - 5 hours). Of these 271 myopathogenes, 83 respond to Pax7, a master regulator of satellite cells. Our analysis suggests possible perturbation of satellite cell function in many neuromuscular disorders across all categories, including those where skeletal muscle pathology is not predominant. This characterisation further aids understanding of pathomechanisms and informs on development of prognostic and diagnostic tools, and ultimately, new therapeutics.
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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.