138 results found
    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. Cell Biology

    Schnyder corneal dystrophy-associated UBIAD1 inhibits ER-associated degradation of HMG CoA reductase in mice

    Youngah Jo et al.
    UBIAD1 mediates a unique geranylgeranyl pyrophosphate-sensing mechanism that when disrupted, inhibits degradation of HMG CoA reductase and triggers overproduction of corneal cholesterol that characterizes the eye disease Schnyder Corneal Dystrophy.
    1. Cell Biology
    2. Human Biology and Medicine

    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
    2. Human Biology and Medicine

    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. 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. Stem Cells and Regenerative Medicine

    Myofiber-specific TEAD1 overexpression drives satellite cell hyperplasia and counters pathological effects of dystrophin deficiency

    Sheryl Southard et al.
    For skeletal muscle in mice, the size of the stem cell pool can be uncoupled from overall tissue size allowing for a dramatic increase in stem cell number.
    1. Cell Biology

    NADPH oxidase mediates microtubule alterations and diaphragm dysfunction in dystrophic mice

    James Anthony Loehr et al.
    Reative oxygen species modulate microtubules and diaphragm function.
    1. Biochemistry and Chemical Biology
    2. Structural Biology and Molecular Biophysics

    Molecular mechanisms of gating in the calcium-activated chloride channel bestrophin

    Alexandria N Miller et al.
    Cryo-EM structures of the gating cycle of bestrophin reveal the molecular underpinnings of activation and inactivation gating in this calcium-activated chloride channel and reveal a surprisingly wide pore.
    1. Biochemistry and Chemical Biology
    2. Human Biology and Medicine

    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.
    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.

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