221 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. Genetics and Genomics

    Start codon disruption with CRISPR/Cas9 prevents murine Fuchs’ endothelial corneal dystrophy

    Hironori Uehara et al.
    Adenoviral CRISPR/Cas9 gene knockdown of mutant Col8a2 achieves structural and functional rescue of murine Fuchs’ endothelial corneal dystrophy, the first demonstration of post-mitotic CRISPR-based knockdown for phenotypic restoration.
    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. Developmental Biology

    Straightjacket/α2δ3 deregulation is associated with cardiac conduction defects in myotonic dystrophy type 1

    Emilie Auxerre-Plantié et al.
    Drosophila DM1 models suggest that elevated cardiac expression of straightjacket/α2δ3, a regulatory subunit of voltage-gated calcium channel, contributes to cardiac conduction defects in DM1.
    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. 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. 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. 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.

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