791 results found
    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.
    1. Biochemistry and Chemical Biology
    2. Chromosomes and Gene Expression

    ICE1 promotes the link between splicing and nonsense-mediated mRNA decay

    Thomas D Baird, Ken Chih-Chien Cheng ... J Robert Hogg
    A whole-genome siRNA screen identifies ICE1 as a factor required for accurate sensing and quality control of mRNAs containing premature stop codons.
    1. Biochemistry and Chemical Biology

    PPM1H phosphatase counteracts LRRK2 signaling by selectively dephosphorylating Rab proteins

    Kerryn Berndsen, Pawel Lis ... Dario R Alessi
    PPM1H protein phosphatase dephosphorylates Rab proteins modulating LRRK2 signalling.
    1. Cell Biology

    Botulinum toxin intoxication requires retrograde transport and membrane translocation at the ER in RenVM neurons

    Jeremy C Yeo, Felicia P Tay ... Frederic Bard
    BoNT intoxication of neurons is revisited using a genome-wide siRNA screen and organelle-specific reporters, suggesting a mechanism of translocation to the cytosol fundamentally different than previously proposed.
    1. Medicine

    Identification of drug modifiers for RYR1-related myopathy using a multi-species discovery pipeline

    Jonathan R Volpatti, Yukari Endo ... James J Dowling
    A multi-species chemical screening platform reveals a conserved role for p38 inhibition in modulating ryanodine receptor-related phenotypes and is adaptable to a range of neuromuscular disorders.
    1. Chromosomes and Gene Expression

    Identification of epigenetic modulators as determinants of nuclear size and shape

    Andria C Schibler, Predrag Jevtic ... Tom Misteli
    Chromatin modifiers shape nuclear morphology.
    1. Cell Biology
    2. Structural Biology and Molecular Biophysics

    Identification of TMEM206 proteins as pore of PAORAC/ASOR acid-sensitive chloride channels

    Florian Ullrich, Sandy Blin ... Thomas J Jentsch
    TMEM206 proteins are identified as constituting the pore of the widely expressed acid-activated chloride channel PAORAC/ASOR, which is important in acid toxicity.
    1. Cancer Biology
    2. Cell Biology

    The eukaryotic translation initiation factor eIF4E harnesses hyaluronan production to drive its malignant activity

    Hiba Ahmad Zahreddine, Biljana Culjkovic-Kraljacic ... Katherine LB Borden
    The eukaryotic translation initiation factor eIF4E induces hyaluronic acid (HA) synthesis to drive cancer metastasis which can be reversed following eIF4E inhibition and HA degradation.
    1. Cancer Biology

    PTEN and DNA-PK determine sensitivity and recovery in response to WEE1 inhibition in human breast cancer

    Andrä Brunner, Aldwin Suryo Rahmanto ... Olle Sangfelt
    DNA-PK and PTEN protect breast cancer cells from lethal replication stress induced by the WEE1 inhibitor AZD1775 and constitute new potential biomarkers for AZD1775 sensitivity.
    1. Chromosomes and Gene Expression

    Viral-induced alternative splicing of host genes promotes influenza replication

    Matthew G Thompson, Mark Dittmar ... Kristen W Lynch
    Infection of human cells by influenza A virus induces changes in the alternative splicing of host genes that, in turn, promote viral replication.

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