ArticleAnnals of neurology2016
Modulating myosin restores muscle function in a mouse model of nemaline myopathy.
Article in Annals of neurology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
What it found
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Who cites it
20 citing papers in PubMed, 35 citations in OpenAlex.
- WNT3a induces external anal sphincter fibrosis and dysfunction in rabbits.American journal of physiology. Gastrointestinal and liver physiology · 2026Article
- Aberrant myonuclear domains and impaired myofiber contractility despite marked hypertrophy in MYMK-related, Carey-Fineman-Ziter Syndrome.Acta neuropathologica communications · 2024Article
- An Update on Reported Variants in the Skeletal MuscleHuman mutation · 2024Review
- Case report: A novelFrontiers in neurology · 2024Article
- Article
- Comparative study of binding pocket structure and dynamics in cardiac and skeletal myosin.Biophysical journal · 2023Article
- NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy.Acta neuropathologica communications · 2022Article
- Myofibre Hyper-Contractility in Horses Expressing the Myosin Heavy Chain Myopathy Mutation,Cells · 2021Article
- Troponin Variants in Congenital Myopathies: How They Affect Skeletal Muscle Mechanics.International journal of molecular sciences · 2021Review
- Nebulin: big protein with big responsibilities.Journal of muscle research and cell motility · 2020Review
- Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb.Acta neuropathologica communications · 2020Article
- Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy.Acta neuropathologica · 2019Article
- Nemaline myopathies: a current view.Journal of muscle research and cell motility · 2019Review
- Prelamin A causes aberrant myonuclear arrangement and results in muscle fiber weakness.JCI insight · 2018Article
- Do Actomyosin Single-Molecule Mechanics Data Predict Mechanics of Contracting Muscle?International journal of molecular sciences · 2018Review
- Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3).Annals of neurology · 2018Article
- Recent advances in understanding congenital myopathies.F1000Research · 2018Review
- Molecular Consequences of the Myopathy-Related D286G Mutation on Actin Function.Frontiers in physiology · 2018Article
- Novel myosin-based therapies for congenital cardiac and skeletal myopathies.Journal of medical genetics · 2016Review
- Sarcomere Dysfunction in Nemaline Myopathy.Journal of neuromuscular diseasesReview
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 4 countries.
Funding
Abstract
objectiveNemaline myopathy, one of the most common congenital myopathies, is associated with mutations in various genes including ACTA1. This disease is also characterized by various forms/degrees of muscle weakness, with most cases being severe and resulting in death in infancy. Recent findings have provided valuable insight into the underlying pathophysiological mechanisms. Mutations in ACTA1 directly disrupt binding interactions between actin and myosin, and consequently the intrinsic force-generating capacity of muscle fibers. ACTA1 mutations are also associated with variations in myofiber size, the mechanisms of which have been unclear. In the present study, we sought to test the hypotheses that the compromised functional and morphological attributes of skeletal muscles bearing ACTA1 mutations (1) would be directly due to the inefficient actomyosin complex and (2) could be restored by manipulating myosin expression.
methodsWe used a knockin mouse model expressing the ACTA1 His40Tyr actin mutation found in human patients. We then performed in vivo intramuscular injections of recombinant adeno-associated viral vectors harboring a myosin transgene known to facilitate muscle contraction.
resultsWe observed that in the presence of the transgene, the intrinsic force-generating capacity was restored and myofiber size was normal.
interpretationThis demonstrates a direct link between disrupted attachment of myosin molecules to actin monomers and muscle fiber atrophy. These data also suggest that further therapeutic interventions should primarily target myosin dysfunction to alleviate the pathology of ACTA1-related nemaline myopathy. Ann Neurol 2016;79:717-725.
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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.