140 results found
    1. Biochemistry and Chemical Biology

    POMK regulates dystroglycan function via LARGE1-mediated elongation of matriglycan

    Ameya S Walimbe et al.
    Protein O-Mannose Kinase enables Like-acetyl-glucosaminyltransferase 1 to elongate matriglycan on α-dystroglycan, thereby allowing matriglycan to function as a scaffold for extracellular matrix proteins and prevent muscular dystrophy.
    1. Cell Biology

    Ret function in muscle stem cells points to tyrosine kinase inhibitor therapy for facioscapulohumeral muscular dystrophy

    Louise A Moyle et al.
    Rescue of DUX4-induced muscle pathology by the RET inhibitor Sunitinib reveals the therapeutic potential for treatment of Facioscapulohumeral muscular dystrophy using tyrosine kinase inhibitors.
    1. Genetics and Genomics

    A feedback loop between nonsense-mediated decay and the retrogene DUX4 in facioscapulohumeral muscular dystrophy

    Qing Feng et al.
    Expression of the disease gene DUX4 inhibits RNA quality control in skeletal muscle, thereby stabilizing thousands of aberrant RNAs, including its own transcript.
    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

    Thrombospondin expression in myofibers stabilizes muscle membranes

    Davy Vanhoutte et al.
    Thrombospondin proteins regulate vesicular trafficking of integrins and other membrane attachment complex proteins to the plasma membrane of skeletal muscle, which provides greater stability and resistance to muscular dystrophy.
    1. Biochemistry and Chemical Biology

    The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan addition

    Jeremy L Praissman et al.
    Disruption of the LG domain-binding phospho-ribitol-containing O-mannose structures on α-dystroglycan results in congenital muscular dystrophy.
    1. Developmental Biology

    Stage-specific effects of Notch activation during skeletal myogenesis

    Pengpeng Bi et al.
    While Notch activation dedifferentiates newly differentiated muscle cells; it improves the function of muscle fiber as a niche-supporting cell of muscle stem cells.
    1. Cell Biology
    2. Developmental Biology

    In vivo dynamics of skeletal muscle Dystrophin in zebrafish embryos revealed by improved FRAP analysis

    Fernanda Bajanca et al.
    A multidisciplinary approach was used to translate the mathematical analysis of Dystrophin movements inside muscle cells into the biology of how Dystrophin interacts with the cell membrane.
    1. Biochemistry and Chemical Biology
    2. Structural Biology and Molecular Biophysics

    Structure of protein O-mannose kinase reveals a unique active site architecture

    Qinyu Zhu et al.
    Active site migration establishes kinase activity in protein O-mannose kinase.
    1. Biochemistry and Chemical Biology

    B4GAT1 is the priming enzyme for the LARGE-dependent functional glycosylation of α-dystroglycan

    Jeremy L Praissman et al.
    The correct enzymatic activity of a previously misnamed enzyme is defined, placing the enzyme upstream of LARGE in building functional O-mannose structures on α-dystroglycan that are disrupted in multiple forms of congenital muscular dystrophy.

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