62 results found
    1. Cell Biology

    Potassium dependent rescue of a myopathy with core-like structures in mouse

    M Gartz Hanson et al.
    A mouse model of human muscle myopathy is used to provide mechanistic insight, identify possible biomarkers of disease, and suggest possible therapeutic strategies to alleviate muscle weakness.
    1. Medicine

    Identification of drug modifiers for RYR1-related myopathy using a multi-species discovery pipeline

    Jonathan R Volpatti et al.
    A multi-species chemical screening platform reveals a conserved role for p38 inhibition in modulating ryanodine receptor-related phenotypes and is adaptable to a range of neuromuscular disorders.
    1. Medicine

    Drug Discovery: From worms to fish to mice

    Guy M Benian, Hyojung J Choo
    An multi-species approach can be used to identify small molecules with properties that might prove useful for the treatment of some neuromuscular diseases.
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    1. Cell Biology

    KLHL41 stabilizes skeletal muscle sarcomeres by nonproteolytic ubiquitination

    Andres Ramirez-Martinez et al.
    KLHL41 acts as a poly-ubiquitin dependent chaperone that prevents the formation of pathogenic nebulin aggregates associated with muscle disease.
    1. Medicine
    2. Immunology and Inflammation

    Chronic muscle weakness and mitochondrial dysfunction in the absence of sustained atrophy in a preclinical sepsis model

    Allison M Owen et al.
    Sepsis-induced long-term muscle weakness was reproduced using a refined murine model, which was accompanied by mitochondrial dysfunction in the absence of sustained atrophy, suggesting the promise of mitochondria-targeted post-sepsis therapies.
    1. Genetics and Genomics

    Quantitative proteomics reveals key roles for post-transcriptional gene regulation in the molecular pathology of facioscapulohumeral muscular dystrophy

    Sujatha Jagannathan et al.
    The myopathic transcription factor DUX4 induces discordant dysregulation of transcript and protein levels, demonstrating a key role for post-transcriptional gene regulation in facioscapulohumeral muscular dystrophy.
    1. Cell Biology
    2. Neuroscience

    Transverse tubule remodeling enhances Orai1-dependent Ca2+ entry in skeletal muscle

    Antonio Michelucci et al.
    Structural and functional analyses show that transverse tubule association with stacks of sarcoplasmic reticulum enhances Orai1-dependent Ca2+ entry to replenish Ca2+ stores, maintain Ca2+ release, and maximize force during exercise.
    1. Biochemistry and Chemical Biology
    2. Structural Biology and Molecular Biophysics

    Structures reveal opening of the store-operated calcium channel Orai

    Xiaowei Hou et al.
    The structure of the calcium channel Orai in an open conformation reveals a dilated pore and gives insight into mechanisms of ion permeation and calcium selectivity.
    1. Cell Biology
    2. Computational and Systems Biology

    Transcriptional profiling reveals extraordinary diversity among skeletal muscle tissues

    Erin E Terry et al.
    There is no such thing as a representative skeletal muscle tissue, as each member of this family of tissues expresses a specialized mRNA program.
    1. Chromosomes and Gene Expression
    2. Medicine

    A deleterious gene-by-environment interaction imposed by calcium channel blockers in Marfan syndrome

    Jefferson J Doyle et al.
    Calcium channel blockers accelerate aortic aneurysm and cause premature aortic rupture in a mouse model of Marfan syndrome through protein kinase C-mediated activation of extracellular signal-regulated kinase.

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