73 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. 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

    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. Neuroscience

    Valosin-containing protein (VCP/p97) inhibitors relieve Mitofusin-dependent mitochondrial defects due to VCP disease mutants

    Ting Zhang et al.
    A potential medication has been found for the brain and muscle degenerative diseases caused by mutant forms of Valosin-Containing Protein.
    1. Stem Cells and Regenerative Medicine

    Bioengineered human myobundles mimic clinical responses of skeletal muscle to drugs

    Lauran Madden et al.
    A novel bioengineered human skeletal muscle model with accurate physiological and pharmacological responses may provide a useful tool for preclinical testing.
    1. Structural Biology and Molecular Biophysics

    Two forms of Opa1 cooperate to complete fusion of the mitochondrial inner-membrane

    Yifan Ge et al.
    An in vitro reconstitution assay reveals stoichiometric levels of the short form of Opa1 work together with the long form of Opa1 to mediate efficient and fast membrane pore opening.
    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. Immunology and Inflammation
    2. Microbiology and Infectious Disease

    Phenotypic complementation of genetic immunodeficiency by chronic herpesvirus infection

    Donna A MacDuff et al.
    HOIL-1 deficiency in mice results in a severe immunodeficiency that is effectively complemented by chronic infection with a murine gamma-herpesvirus.
    1. Cell Biology
    2. Medicine

    Augmenter of liver regeneration regulates cellular iron homeostasis by modulating mitochondrial transport of ATP-binding cassette B8

    Hsiang-Chun Chang et al.
    Mammalian cellular iron homeostasis and the maturation of the cytosolic iron sulfur cluster proteins are dependent on the mitochondrial protein import machinery.
    1. Genetics and Genomics

    An internal promoter underlies the difference in disease severity between N- and C-terminal truncation mutations of Titin in zebrafish

    Jun Zou et al.
    The newly discovered Titin internal promoter may explain why the severity of dilated cardiomyopathy in patients with truncating mutations in Titin varies dramatically depending on position of the mutation.

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