ArticlePloS one2012
A splice site mutation in laminin-α2 results in a severe muscular dystrophy and growth abnormalities in zebrafish.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 112 citations in OpenAlex.
- Zebrafish as a Model Organism for Research in Rare Genetic Neuromuscular Diseases.International journal of molecular sciences · 2025Review
- Removal of pomt1 in zebrafish leads to loss of α-dystroglycan glycosylation and dystroglycanopathy phenotypes.Human molecular genetics · 2024Article
- Standardization of zebrafish drug testing parameters for muscle diseases.Disease models & mechanisms · 2024Article
- Modeling Human Muscular Dystrophies in Zebrafish: Mutant Lines, Transgenic Fluorescent Biosensors, and Phenotyping Assays.International journal of molecular sciences · 2023Review
- Post-GWAS screening of candidate genes for refractive error in mutant zebrafish models.Scientific reports · 2023Article
- Skeletal Muscle Regeneration in Zebrafish.Methods in molecular biology (Clifton, N.J.) · 2023Article
- ITGβ6 Facilitates Skeletal Muscle Development by Maintaining the Properties and Cytoskeleton Stability of Satellite Cells.Life (Basel, Switzerland) · 2022Article
- Lysosomes and the pathogenesis of merosin-deficient congenital muscular dystrophy.Human molecular genetics · 2022Article
- Teleost Fish and Organoids: Alternative Windows Into the Development of Healthy and Diseased Brains.Frontiers in molecular neuroscience · 2022Review
- Development of a high-throughput tailored imaging method in zebrafish to understand and treat neuromuscular diseases.Frontiers in molecular neuroscience · 2022Article
- Extracellular matrix: an important regulator of cell functions and skeletal muscle development.Cell & bioscience · 2021Review
- Zebrafish models of sarcopenia.Disease models & mechanisms · 2020Review
- Zebrafish Models ofFrontiers in molecular neuroscience · 2020Article
- A Family of Laminin α2 Chain-Deficient Mouse Mutants: Advancing the Research on LAMA2-CMD.Frontiers in molecular neuroscience · 2020Review
- NAD+ improves neuromuscular development in a zebrafish model of FKRP-associated dystroglycanopathy.Skeletal muscle · 2019Review
- RNA helicase, DDX27 regulates skeletal muscle growth and regeneration by modulation of translational processes.PLoS genetics · 2018Article
- A novel early onset phenotype in a zebrafish model of merosin deficient congenital muscular dystrophy.PloS one · 2017Article
- Muscle dysfunction in a zebrafish model of Duchenne muscular dystrophy.Physiological genomics · 2016Article
- Using Touch-evoked Response and Locomotion Assays to Assess Muscle Performance and Function in Zebrafish.Journal of visualized experiments : JoVE · 2016Article
- Cellular dynamics of regeneration reveals role of two distinct Pax7 stem cell populations in larval zebrafish muscle repair.Disease models & mechanisms · 2016Article
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Authors and funding
11 authors at 6 institutions in 2 countries.
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Abstract
Congenital muscular dystrophy (CMD) is a clinically and genetically heterogeneous group of inherited muscle disorders. In patients, muscle weakness is usually present at or shortly after birth and is progressive in nature. Merosin deficient congenital muscular dystrophy (MDC1A) is a form of CMD caused by a defect in the laminin-α2 gene (LAMA2). Laminin-α2 is an extracellular matrix protein that interacts with the dystrophin-dystroglycan (DGC) complex in membranes providing stability to muscle fibers. In an N-ethyl-N-nitrosourea mutagenesis screen to develop zebrafish models of neuromuscular diseases, we identified a mutant fish that exhibits severe muscular dystrophy early in development. Genetic mapping identified a splice site mutation in the lama2 gene. This splice site is highly conserved in humans and this mutation results in mis-splicing of RNA and a loss of protein function. Homozygous lama2 mutant zebrafish, designated lama2(cl501/cl501), exhibited reduced motor function and progressive degeneration of skeletal muscles and died at 8-15 days post fertilization. The skeletal muscles exhibited damaged myosepta and detachment of myofibers in the affected fish. Laminin-α2 deficiency also resulted in growth defects in the brain and eye of the mutant fish. This laminin-α2 deficient mutant fish represents a novel disease model to develop therapies for modulating splicing defects in congenital muscular dystrophies and to restore the muscle function in human patients with CMD.
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Registered trials
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