32 results found
    1. Cell Biology

    A liquid-like organelle at the root of motile ciliopathy

    Ryan L Huizar et al.
    DynAPs reveal that biological phase separation provides the organizing principle for the complex process of dynein motor assembly in cells with motile cilia.
    1. Developmental Biology

    Dysregulation of sonic hedgehog signaling causes hearing loss in ciliopathy mouse models

    Kyeong-Hye Moon et al.
    Developmental defects of the cochlea caused by dysregulation of sonic hedgehog signaling are the potential etiology for hearing loss in a group of ciliopathies with defective ciliogenesis.
    1. Developmental Biology

    TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)

    Louise A Stephen et al.
    Mutations in KIAA0586 (TALPID3) cause a severe ciliopathy called Joubert syndrome that affects organ, cell and centrosome polarity.
    1. Cell Biology
    2. Developmental Biology

    ZMYND10 functions in a chaperone relay during axonemal dynein assembly

    Girish R Mali et al.
    Chaperoning defects in axonemal dynein subunits trigger proteostatic clearance of dynein motors opening up the possibility of trialling proteostasis modulators to treat the motile ciliopathy primary ciliary dyskinesia (PCD).
    1. Cell Biology

    A novel Cep120-dependent mechanism inhibits centriole maturation in quiescent cells

    Ewelina Betleja et al.
    Cells have evolved a mechanism that actively regulates centriole maturation during quiescence.
    1. Cell Biology

    Functional partitioning of a liquid-like organelle during assembly of axonemal dyneins

    Chanjae Lee et al.
    DynAPs are liquid-like organelles that are partitioned into functional sub-domains.
    1. Developmental Biology

    Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

    Susanne Roosing et al.
    A supervised learning approach on a high-content genome-wide siRNA screen has identified 591 likely candidates for ciliopathies and facilitated in the discovery of KIAA0586 mutations in individuals with Joubert syndrome.
    1. Cell Biology
    2. Developmental Biology

    Alstrom syndrome gene is a stem-cell-specific regulator of centriole duplication in the Drosophila testis

    Cuie Chen, Yukiko M Yamashita
    Alms1a is a centrosomal protein that exhibits asymmetric localization between mother and daughter centrosomes in asymmetrically dividing stem cells in Drosophila testis, controlling centriole duplication.
    1. Cell Biology
    2. Developmental Biology

    Islet vascularization is regulated by primary endothelial cilia via VEGF-A-dependent signaling

    Yan Xiong et al.
    Primary cilia on endothelial cells are required for VEGF-A/ VEGFR2-dependent signaling, islet vascularization and, consequently, nutrient delivery and insulin disposal.
    1. Developmental Biology

    Primary cilia deficiency in neural crest cells models anterior segment dysgenesis in mouse

    Céline Portal et al.
    Primary cilia of neural crest-derived cells mediate Indian hedgehog-induced signal transduction in the periocular mesenchyme and are required for normal anterior segment development.

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