ArticleHuman molecular genetics2014
Bridging integrator 1 (Bin1) deficiency in zebrafish results in centronuclear myopathy.
Article in Human molecular genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 32 citations in OpenAlex.
- Aligning with the 3Rs: alternative models for research into muscle development and inherited myopathies.BMC veterinary research · 2024Review
- Mice with muscle-specific deletion of Bin1 recapitulate centronuclear myopathy and acute downregulation of dynamin 2 improves their phenotypes.Molecular therapy : the journal of the American Society of Gene Therapy · 2022Article
- Cavin4 interacts with Bin1 to promote T-tubule formation and stability in developing skeletal muscle.The Journal of cell biology · 2021Article
- Common Pathogenic Mechanisms in Centronuclear and Myotubular Myopathies and Latest Treatment Advances.International journal of molecular sciences · 2021Review
- Generation of a Triadin KnockOut Syndrome Zebrafish Model.International journal of molecular sciences · 2021Article
- SPEG binds with desmin and its deficiency causes defects in triad and focal adhesion proteins.Human molecular genetics · 2021Article
- Differential physiological roles for BIN1 isoforms in skeletal muscle development, function and regeneration.Disease models & mechanisms · 2020Article
- Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians.Annals of neurology · 2020Article
- Discovery of Novel Therapeutics for Muscular Dystrophies using Zebrafish Phenotypic Screens.Journal of neuromuscular diseases · 2019Review
- RNA helicase, DDX27 regulates skeletal muscle growth and regeneration by modulation of translational processes.PLoS genetics · 2018Article
- "Muscling" Throughout Life: Integrating Studies of Muscle Development, Homeostasis, and Disease in Zebrafish.Current topics in developmental biology · 2017Review
- Cardiac T-Tubule Microanatomy and Function.Physiological reviews · 2017Review
- Structural insights into the centronuclear myopathy-associated functions of BIN1 and dynamin 2.Journal of structural biology · 2016Review
- BIN1 regulates dynamic t-tubule membrane.Biochimica et biophysica acta · 2016Review
- Phosphoinositides in Ca(2+) signaling and excitation-contraction coupling in skeletal muscle: an old player and newcomers.Journal of muscle research and cell motility · 2015Review
- ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6).Human molecular genetics · 2014Article
- Triadopathies: an emerging class of skeletal muscle diseases.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2014Review
- Pathogenic mechanisms in centronuclear myopathies.Frontiers in aging neuroscience · 2014Review
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
Autosomal recessive centronuclear myopathy (CNM2), caused by mutations in bridging integrator 1 (BIN1), is a mildly progressive neuromuscular disorder characterized by abnormally centralized myonuclei and muscle weakness. BIN1 is important for membrane sensing and remodeling in vitro in different cell types. However, to fully understand the biological roles of BIN1 in vivo and to answer critical questions concerning the muscle-specific function of BIN1 in vertebrates, robust small animal models are required. In this study, we create and characterize a novel zebrafish model of CNM2 using antisense morpholinos. Immunofluorescence and histopathological analyses of Bin1-deficient zebrafish skeletal muscle reveal structural defects commonly reported in human CNM2 biopsies. Live imaging of zebrafish embryos shows defective calcium release in bin1 morphants, linking the presence of abnormal triads to impairments in intracellular signaling. RNA-mediated rescue assays demonstrate that knockdown of zebrafish bin1 can reliably examine the pathogenicity of novel BIN1 mutations in vivo. Finally, our results strongly suggest that the phosphoinositide-binding domain of BIN1, present only in skeletal muscle isoforms, may be more critical for muscle maturation and maintenance than for early muscle development. Overall, our data support that BIN1 plays an important role in membrane tubulation and may promote skeletal muscle weakness in CNM2 by disrupting machinery necessary for excitation-contraction coupling in vertebrate organisms. The reproducible phenotype of Bin1-deficient zebrafish, together with the generalized advantages of the teleost system, makes this model readily adaptable to high-throughput screening strategies and may be used to identify therapies for CNM2 and related neuromuscular diseases.
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Registered trials
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