14 results found
    1. Cell Biology
    2. Medicine

    Proposed therapy, developed in a Pcdh15-deficient mouse, for progressive loss of vision in human Usher syndrome

    Saumil Sethna, Wadih M Zein ... Zubair M Ahmed
    A preclinical study using exogenous retinoids in a novel Usher syndrome 1F mouse model reveals a possible therapy to treat mutant PCDH15-mediated visual dysfunction.
    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, Nikolaos Giagtzoglou ... Hugo J Bellen
    A novel mechanism links two myosins associated with deafness in auditory organs.
    1. Developmental Biology

    Absence of CEP78 causes photoreceptor and sperm flagella impairments in mice and a human individual

    Tianyu Zhu, Yuxin Zhang ... Chen Zhao
    Study of human, knockout mice, and in-vitro models revealed CEP78 absence is the genetical cause of cone-rod dystrophy and male infertility with multiple morphological abnormalities of sperm flagella, CEP78 interacted with IFT20 and TTC21A to modulate cilliogenesis and centriole length.
    1. Developmental Biology
    2. Chromosomes and Gene Expression

    Patient-specific iPSC-derived photoreceptor precursor cells as a means to investigate retinitis pigmentosa

    Budd A Tucker, Robert F Mullins ... Edwin M Stone
    Skin cells from a patient with retinitis pigmentosa have been used to generate induced pluripotent stem cells, which could potentially form the basis of new treatments for this disease.
    1. Cell Biology
    2. Developmental Biology

    Genetic Screen: Hearing lessons from flies

    Yi-Nan Lee, Cheng-Ting Chien
    Version of Record
    Insight
    1. Cell Biology
    2. Neuroscience

    Pregnancy-associated plasma protein-aa regulates endoplasmic reticulum–mitochondria associations

    Mroj Alassaf, Mary C Halloran
    An extracellular modulator of IGF1 signaling, Pappaa, regulates endoplasmic reticulum–mitochondria connections, which are critical for metabolic homeostasis and hair cell survival.
    1. Cell Biology
    2. Neuroscience

    PDZD7-MYO7A complex identified in enriched stereocilia membranes

    Clive P Morgan, Jocelyn F Krey ... Peter G Barr-Gillespie
    A new purification method for stereocilia membranes enables efficient immunoaffinity purification of rare protein complexes from hair cell stereocilia, including the newly described complex of deafness genes PDZD7 and MYO7A.
    1. Immunology and Inflammation

    SPOP targets the immune transcription factor IRF1 for proteasomal degradation

    Irene Schwartz, Milica Vunjak ... Gijs A Versteeg
    SPOP-dependent degradation of interferon regulatory factor 1 curtails cell-intrinsic innate immunity, thereby contributing to immune resolution.

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