553 results found
    1. Cell Biology
    2. Human Biology and Medicine

    Impaired skeletal muscle mitochondrial pyruvate uptake rewires glucose metabolism to drive whole-body leanness

    Arpit Sharma et al.
    Skeletal muscle mitochondrial pyruvate carrier disruption increases muscle fatty acid oxidation and systemic glucose turnover that drive whole-body leanness.
    1. Neuroscience

    Otoferlin acts as a Ca2+ sensor for vesicle fusion and vesicle pool replenishment at auditory hair cell ribbon synapses

    Nicolas Michalski et al.
    Targeted mutations in a Ca2+-binding site of otoferlin, a transmembrane protein of synaptic vesicles defective in a recessive form of deafness, reveal its Ca2+ sensor role both for vesicle fusion and vesicle pool replenishment.
    1. Neuroscience

    Integration of Tmc1/2 into the mechanotransduction complex in zebrafish hair cells is regulated by Transmembrane O-methyltransferase (Tomt)

    Timothy Erickson et al.
    A zebrafish model for a particular form of human deafness (DFNB63) changes our view of this disease by revealing a defect in the localization of Transmembrane channel-like proteins that are essential for mechanotransduction in sensory cells.
    1. Cell Biology
    2. Neuroscience

    Hearing: It takes two

    Teresa Nicolson
    Insight
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    1. Neuroscience

    Murine Fam65b forms ring-like structures at the base of stereocilia critical for mechanosensory hair cell function

    Bo Zhao et al.
    Super-resolution microscopy reveals a highly organized compartment in the stereocilia of mechanosensory hair cells of the inner ear, which is critical for hair cell function and affected in disease.
    1. Structural Biology and Molecular Biophysics

    Structural relationship between the putative hair cell mechanotransduction channel TMC1 and TMEM16 proteins

    Angela Ballesteros et al.
    The structural relationship between TMC and TMEM16 proteins provides insight into the structure and functional mechanisms of the mechanotransduction channel complex in hair cells.
    1. Cell Biology
    2. Neuroscience

    The 133-kDa N-terminal domain enables myosin 15 to maintain mechanotransducing stereocilia and is essential for hearing

    Qing Fang et al.
    Two myosin 15 isoforms are required separately for the development and long-term maintenance of hearing.
    1. Structural Biology and Molecular Biophysics
    2. Human Biology and Medicine

    Connexin26 hemichannels with a mutation that causes KID syndrome in humans lack sensitivity to CO2

    Louise Meigh et al.
    Building on previous work (Meigh et al., 2013) we show that A88V, a mutation in connexin26 (Cx26) that causes Keratitis-Ichthyosis-Deafness (KID) syndrome in humans, is linked to a lack of sensitivity to CO2 by Cx26 hemichannels.
    1. Cell Biology
    2. Developmental Biology

    The E3 ligase Ubr3 regulates Usher syndrome and MYH9 disorder proteins in the auditory organs of Drosophila and mammals

    Tongchao Li et al.
    A novel mechanism links two myosins associated with deafness in auditory organs.
    1. Cell Biology

    Potassium dependent rescue of a myopathy with core-like structures in mouse

    M Gartz Hanson et al.
    A mouse model of human muscle myopathy is used to provide mechanistic insight, identify possible biomarkers of disease, and suggest possible therapeutic strategies to alleviate muscle weakness.

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