ReviewInternational journal of molecular sciences2018
The Molecular Mechanisms of Mutations in Actin and Myosin that Cause Inherited Myopathy.
Review in International journal of molecular sciences, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 34 citations in OpenAlex.
- Genome-wide identification and expression analysis of the actin gene family in soybean (Glycine max).Genetica · 2025Article
- Article
- Article
- An Update on Reported Variants in the Skeletal MuscleHuman mutation · 2024Review
- Modeling Duchenne Muscular Dystrophy Cardiomyopathy with Patients' Induced Pluripotent Stem-Cell-Derived Cardiomyocytes.International journal of molecular sciences · 2023Review
- Actin-Binding Proteins in Cardiac Hypertrophy.Cells · 2022Review
- Article
- Critical Evaluation of Current Hypotheses for the Pathogenesis of Hypertrophic Cardiomyopathy.International journal of molecular sciences · 2022Review
- Comparison of Gene Expression Between Resistant and Susceptible Families Against VPFrontiers in genetics · 2021Article
- Prolonged Exposure to Microgravity Reduces Cardiac Contractility and Initiates Remodeling in Drosophila.Cell reports · 2020Article
- Actin-binding compounds, previously discovered by FRET-based high-throughput screening, differentially affect skeletal and cardiac muscle.The Journal of biological chemistry · 2020Article
- Actin Mutations and Their Role in Disease.International journal of molecular sciences · 2020Review
- Myosin motor domains carrying mutations implicated in early or late onset hypertrophic cardiomyopathy have similar properties.The Journal of biological chemistry · 2019Article
- Special Issue: The Actin-Myosin Interaction in Muscle: Background and Overview.International journal of molecular sciences · 2019Review
- Intrinsic Disorder of the BAF Complex: Roles in Chromatin Remodeling and Disease Development.International journal of molecular sciences · 2019Article
- Nemaline myopathies: a current view.Journal of muscle research and cell motility · 2019Review
- Small molecule studies: the fourth wave of muscle research.Journal of muscle research and cell motility · 2019Article
- K336I mutant actin alters the structure of neighbouring protomers in filaments and reduces affinity for actin-binding proteins.Scientific reports · 2019Article
- G65V Substitution in Actin Disturbs Polymerization Leading to Inhibited Cell Elongation in Cotton.Frontiers in plant science · 2019Article
- Conformation of actin subunits at the barbed and pointed ends of F-actin with and without capping proteins.Cytoskeleton (Hoboken, N.J.)Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
Abstract
The discovery that mutations in myosin and actin genes, together with mutations in the other components of the muscle sarcomere, are responsible for a range of inherited muscle diseases (myopathies) has revolutionized the study of muscle, converting it from a subject of basic science to a relevant subject for clinical study and has been responsible for a great increase of interest in muscle studies. Myopathies are linked to mutations in five of the myosin heavy chain genes, three of the myosin light chain genes, and three of the actin genes. This review aims to determine to what extent we can explain disease phenotype from the mutant genotype. To optimise our chances of finding the right mechanism we must study a myopathy where there are a large number of different mutations that cause a common phenotype and so are likely to have a common mechanism: a corollary to this criterion is that if any mutation causes the disease phenotype but does not correspond to the proposed mechanism, then the whole mechanism is suspect. Using these criteria, we consider two cases where plausible genotype-phenotype mechanisms have been proposed: the actin "A-triad" and the myosin "mesa/IHD" models.
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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.