71 results found
    1. Cell Biology
    2. Developmental Biology

    Myogenin controls via AKAP6 non-centrosomal microtubule-organizing center formation at the nuclear envelope

    Robert Becker et al.
    Myogenin promotes centrosome attenuation and establishes the nuclear envelope as the dominant microtubule organization center via the scaffold protein AKAP6, which is required for the recruitment of centrosomal proteins.
    1. Genetics and Genomics
    2. Medicine

    SMA-miRs (miR-181a-5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples

    Emanuela Abiusi et al.
    The identification of SMA-miR supports the pathogenic role of skeletal muscle in spinal muscular atrophy and, integrated in the SMA-score, may help to improve the phenotypic prediction for patients.
    1. Cell Biology

    CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels

    André Brás Gonçalves et al.
    Analysis of mutant cells combined with biochemical experiments reveals that CEP78 is recruited to the centrosome by CEP350 and regulates ciliogenesis and ciliary length control through CP110-dependent and CP110-independent mechanisms, respectively.
    1. Genetics and Genomics

    Repurposing eflornithine to treat a patient with a rare ODC1 gain-of-function variant disease

    Surender Rajasekaran et al.
    Genetic sequencing has led to the increased diagnoses of rare diseases, strategies such as repurposing drugs and global metabolomics offer promise and bring hope to afflicted families.
    1. Genetics and Genomics

    Start codon disruption with CRISPR/Cas9 prevents murine Fuchs’ endothelial corneal dystrophy

    Hironori Uehara et al.
    Adenoviral CRISPR/Cas9 gene knockdown of mutant Col8a2 achieves structural and functional rescue of murine Fuchs’ endothelial corneal dystrophy, the first demonstration of post-mitotic CRISPR-based knockdown for phenotypic restoration.
    1. Cell Biology
    2. Developmental Biology

    Canonical NF-κB signaling maintains corneal epithelial integrity and prevents corneal aging via retinoic acid

    Qian Yu et al.
    Corneal aging is regulated by the NF-κB-retinoic acid pathway and can be delayed by retinoic acid administration.
    1. Structural Biology and Molecular Biophysics

    Distinct expression requirements and rescue strategies for BEST1 loss- and gain-of-function mutations

    Qingqing Zhao et al.
    BEST1 autosomal dominant loss-of-function mutations surprisingly behave in a dominant-negative manner, whereas gain-of-function mutations exhibit a strong dominant effect that necessitates CRISPR/Cas9-mediated suppression of the endogenous mutant allele in gene therapy.
    1. Cell Biology

    Bardet–Biedl syndrome 3 protein promotes ciliary exit of the signaling protein phospholipase D via the BBSome

    Yan-Xia Liu et al.
    Bardet–Biedl syndrome 3 (BBS3) protein promotes phospholipase D to load onto the BBSome at the ciliary tip for moving out of the cilium via intraflagellar transport.
    1. Structural Biology and Molecular Biophysics

    Molecular structures of the eukaryotic retinal importer ABCA4

    Fangyu Liu et al.
    The structures of ABCA4 in two conformations provide a framework to understand its transport mechanism.
    1. Genetics and Genomics
    2. Neuroscience

    A simple and effective F0 knockout method for rapid screening of behaviour and other complex phenotypes

    François Kroll et al.
    Zebrafish knockouts can be generated in a few hours directly from wild-type eggs and are suitable for studying continuous traits, including behaviour.

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