20 results found
    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. Biochemistry and Chemical Biology
    2. Human Biology and Medicine

    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. Human Biology and Medicine

    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. 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. 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. 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. Cell Biology

    Molecular basis for dyneinopathies reveals insight into dynein regulation and dysfunction

    Matthew G Marzo et al.
    A mutagenesis screen in budding yeast sheds light on dynein regulation and function, and reveals the molecular basis for disease in patients suffering from neuropathies caused by dynein dysfunction.
    1. Biochemistry and Chemical Biology
    2. Human Biology and Medicine

    The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated α-dystroglycan functional glycosylation

    Tobias Willer et al.
    Post-phosphoryl modification of α-dystroglycan requires the glucuronyltransferase B4GAT1; this enzyme synthesizes the acceptor glycan that serves as a primer for the glycosyltransferase LARGE to synthesize the laminin-binding glycan.
    1. Chromosomes and Gene Expression

    Progerin reduces LAP2α-telomere association in Hutchinson-Gilford progeria

    Alexandre Chojnowski et al.
    Expression of the lamina-associated polypeptide α (LAP2α) prevents premature cellular ageing caused by expression of progerin in Hutchinson-Gilford progeria syndrome.
    1. Developmental Biology

    Unique morphogenetic signatures define mammalian neck muscles and associated connective tissues

    Eglantine Heude et al.
    Genetic studies in the mouse provide a blueprint of the embryonic origins of neck muscles originating from cranial and somitic mesoderm, as well as associated connective tissue.

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