17 results found
    1. Developmental Biology
    2. Human Biology and Medicine

    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

    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

    Cilia-mediated Hedgehog signaling controls form and function in the mammalian larynx

    Jacqueline M Tabler et al.
    Genetic studies in mice reveal the molecular and embryological mechanisms of vocal fold development and function, thereby informing our understanding of vocal communication and congenital voice defects.
    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. Developmental Biology
    2. Human Biology and Medicine

    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

    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. Developmental Biology

    Developmental Biology: Shaping the sound of voice

    Ralph Marcucio
    The proper development of the vocal cords requires embryos to contain a certain number of progenitor cells, and mutations that lead to an overflow of cells can cause malformations of the voice box.
    Insight
    Available as:
    • HTML
    • PDF
    1. Cell Biology

    The GTPase IFT27 is involved in both anterograde and retrograde intraflagellar transport

    Diego Huet et al.
    A small GTPase within the flagellum can participate in the control of transport from the base to the tip of the flagellum, and back again.
    1. Cell Biology

    The master cell cycle regulator APC-Cdc20 regulates ciliary length and disassembly of the primary cilium

    Weiping Wang et al.
    The anaphase promoting complex (APC) has an essential role in ubiquitin-mediated proteolysis in the disassembly of cilia.
    1. Biochemistry and Chemical Biology
    2. Structural Biology and Molecular Biophysics

    A G-protein activation cascade from Arl13B to Arl3 and implications for ciliary targeting of lipidated proteins

    Katja Gotthardt et al.
    The ciliary G-protein Arl13B – which is often mutated in Joubert syndrome – is the Guanine nucleotide exchange factor for the G-protein Arl3 and exclusively localizes to cilia.

Refine your results by:

Type
Research categories