146 results found
    1. Biochemistry and Chemical Biology
    2. Cell Biology

    Minor introns are embedded molecular switches regulated by highly unstable U6atac snRNA

    Ihab Younis, Kimberly Dittmar ... Gideon Dreyfuss
    Hundreds of cell growth and stress response genes are controlled by a rare small RNA component of an ancient splicing machinery, providing a raison d'être for its previously unexplained evolutionary conservation.
    1. Structural Biology and Molecular Biophysics
    2. Cell Biology

    Crystal structures of the CPAP/STIL complex reveal its role in centriole assembly and human microcephaly

    Matthew A Cottee, Nadine Muschalik ... Mark van Breugel
    Structural analyses of the centriole proteins CPAP and STIL identify domains that are critical for centriole formation and provide a structural explanation for a mutation that causes human microcephaly.
    1. Neuroscience

    Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice

    Laura Dean Heckman, Maria H Chahrour, Huda Y Zoghbi
    Transgenic mice with Rett-causing mutations in MeCP2 reveal that a basic cluster in the C-terminus of the protein binds DNA and that both the methyl-CpG binding domain and the transcriptional repression domain are necessary to elicit toxicity in MECP2 duplication syndrome.
    1. Cell Biology
    2. Developmental Biology

    Specific polar subpopulations of astral microtubules control spindle orientation and symmetric neural stem cell division

    Felipe Mora-Bermúdez, Fumio Matsuzaki, Wieland B Huttner
    Mammalian neural stem cells specifically regulate a subset of astral microtubules to govern the subtle changes in spindle orientation that underlie symmetric vs asymmetric cell division during embryonic cortical neurogenesis.
    1. Developmental Biology
    2. Chromosomes and Gene Expression

    The scaffold protein Nde1 safeguards the brain genome during S phase of early neural progenitor differentiation

    Shauna L Houlihan, Yuanyi Feng
    Differentiation-specific maintenance of genome integrity during S-phase is essential for establishing both the structure and function of the cerebral cortex.
    1. Cell Biology
    2. Developmental Biology

    A molecular mechanism of mitotic centrosome assembly in Drosophila

    Paul T Conduit, Jennifer H Richens ... Jordan W Raff
    The proteins DSpd-2 and Centrosomin assemble into dynamic scaffolds that build from the inside out around the mother centriole and support centrosome maturation.
    1. Developmental Biology
    2. Neuroscience

    Foxc1 dependent mesenchymal signalling drives embryonic cerebellar growth

    Parthiv Haldipur, Gwendolyn S Gillies ... Kathleen J Millen
    The mesenchyme surrounding the developing brain plays a significant role in controlling the fundamental growth and patterning of the cerebellum, and misregulation of this signalling can lead to important neurodevelopmental disorders.
    1. Structural Biology and Molecular Biophysics
    2. Cell Biology

    The Caenorhabditis elegans protein SAS-5 forms large oligomeric assemblies critical for centriole formation

    Kacper B Rogala, Nicola J Dynes ... Ioannis Vakonakis
    SAS-5 forms oligomers, through a trimeric coiled coil and novel dimeric domain, that are necessary for centriolar localisation of SAS-5 and for centriole duplication.
    1. Structural Biology and Molecular Biophysics
    2. Cell Biology

    The homo-oligomerisation of both Sas-6 and Ana2 is required for efficient centriole assembly in flies

    Matthew A Cottee, Nadine Muschalik ... Susan M Lea
    The structure of the Ana2 Central Coiled-Coil Domain provides insight into how centriolar cartwheel components may be recruited and assembled, and indicates that cartwheel assembly involves more than just SAS-6 oligomerisation.
    1. Developmental Biology

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

    Susanne Roosing, Matan Hofree ... Joseph G Gleeson
    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.

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