30 results found
    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.
    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. Cell Biology
    2. Stem Cells and Regenerative Medicine

    NAD+ enhances ribitol and ribose rescue of α-dystroglycan functional glycosylation in human FKRP-mutant myotubes

    Carolina Ortiz-Cordero et al.
    The combined use of NAD+ with ribitol or ribose potentiates the rescue of α-dystroglycan functional glycosylation in FKRP-mutant patient-specific iPSC-derived myotubes, representing potential novel treatments for FKRP muscular dystrophies.
    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. 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

    Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression

    Nuno Rocha et al.
    Specific human mitofusin 2 mutations induce selective upper body obesity with suppressed leptin expression and severe adipose mitochondrial dysfunction.
    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. Cell Biology
    2. Developmental Biology

    Thrombospondin-4 controls matrix assembly during development and repair of myotendinous junctions

    Arul Subramanian, Thomas F Schilling
    Functional attachments between muscles and tendons require pentameric Thrombospondin-4, revealing novel roles both as an integrin ligand and extracellular matrix scaffold.
    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

    The mammalian LINC complex component SUN1 regulates muscle regeneration by modulating drosha activity

    Tsui Han Loo et al.
    The LINC complex, that couples the interphase cytoskeleton to the nucleus, regulates the processing of a cluster of miRNAs required for muscle regeneration by recruiting and interacting directly with Drosha.

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