ArticleActa neuropathologica communications2018
Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy.
Article in Acta neuropathologica communications, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Pediatric Nemaline Myopathy: A Systematic Review Using Individual Patient Data.Journal of child neurology · 2022Pooled it
- Comprehensive phenotypic characterization of an allelic series of zebrafish models of NEB-related nemaline myopathy.Human molecular genetics · 2024Article
- Creatine and L-carnitine attenuate muscular laminopathy in the LMNA mutation transgenic zebrafish.Scientific reports · 2024Article
- Characterization of NEB pathogenic variants in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects.Acta neuropathologica · 2024Article
- NRAP reduction rescues sarcomere defects in nebulin-related nemaline myopathy.Human molecular genetics · 2023Article
- α-tropomyosin gene (TPM3) mutation in an infant with nemaline myopathy.Clinical case reports · 2021Article
- L-Carnitine ameliorates congenital myopathy in a tropomyosin 3 de novo mutation transgenic zebrafish.Journal of biomedical science · 2021Article
- A Homozygous Deep Intronic Mutation Alters the Splicing of Nebulin Gene in a Patient With Nemaline Myopathy.Frontiers in neurology · 2021Article
- A childhood-onset nemaline myopathy caused by novel heterozygote variants in the nebulin gene with literature review.Acta neurologica Belgica · 2020Review
- Nebulin: big protein with big responsibilities.Journal of muscle research and cell motility · 2020Review
- Expressing a Z-disk nebulin fragment in nebulin-deficient mouse muscle: effects on muscle structure and function.Skeletal muscle · 2020Article
- Expansion of Single Cell Transcriptomics Data of SARS-CoV Infection in Human Bronchial Epithelial Cells to COVID-19.Biological procedures online · 2020Article
- Failure to identify modifiers ofBiology open · 2019Article
- Nemaline myopathies: a current view.Journal of muscle research and cell motility · 2019Review
- Recent advances in understanding congenital myopathies.F1000Research · 2018Review
Corrections and comments
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Authors and funding
6 authors.
Funding
Abstract
Nemaline myopathies are heterogeneous congenital muscle disorders causing skeletal muscle weakness and, in some cases, death soon after birth. Mutations in nebulin, encoding a large sarcomeric protein required for thin filament function, are responsible for approximately 50% of nemaline myopathy cases. Despite the severity of the disease there is no effective treatment for nemaline myopathy with limited research to develop potential therapies. Several supplements, including L-tyrosine, have been suggested to be beneficial and consequently self-administered by nemaline myopathy patients without any knowledge of their efficacy. We have characterized a zebrafish model for nemaline myopathy caused by a mutation in nebulin. These fish form electron-dense nemaline bodies and display reduced muscle function akin to the phenotypes observed in nemaline myopathy patients. We have utilized our zebrafish model to test and evaluate four treatments currently self-administered by nemaline myopathy patients to determine their ability to increase skeletal muscle function. Analysis of muscle pathology and locomotion following treatment with L-tyrosine, L-carnitine, taurine, or creatine revealed no significant improvement in skeletal muscle function emphasizing the urgency to develop effective therapies for nemaline myopathy.
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