141 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. Cell Biology
    2. Stem Cells and Regenerative Medicine

    Filopodia powered by class x myosin promote fusion of mammalian myoblasts

    David W Hammers et al.
    Filopodia driven by class X myosin promote the fusion of mammalian myoblasts in the development of skeletal muscle and are important for the regeneration of skeletal muscle following muscle injury.
    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. Genetics and Genomics
    2. Neuroscience

    Translational control of polyamine metabolism by CNBP is required for Drosophila locomotor function

    Sonia Coni et al.
    A decrease of the type 2 myotonic dystrophy gene product CNBP causes an impairment of polyamine metabolism and locomotor dysfunction that can be reverted with polyamine supplementation.
    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. Computational and Systems Biology
    2. Developmental Biology

    Control of tissue development and cell diversity by cell cycle-dependent transcriptional filtering

    Maria Abou Chakra et al.
    A mathematical model predicts that cell cycle duration acts as a transcriptional filter and directly affects cell diversity in early eukaryotic development.
    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. Genetics and Genomics
    2. Medicine

    Tendon and motor phenotypes in the Crtap-/- mouse model of recessive osteogenesis imperfecta

    Matthew William Grol et al.
    Ultrastructural, biochemical, and behavioral assessments reveal that the Crtap-/- mouse model of severe, recessive Osteogenesis Imperfecta presents with defects in tendon structure and strength that correlate with severe motor deficits.
    1. Cell Biology
    2. Chromosomes and Gene Expression

    A TORC1-histone axis regulates chromatin organisation and non-canonical induction of autophagy to ameliorate ageing

    Yu-Xuan Lu et al.
    Modulation of histone levels in gut enterocytes by rapamycin treatment alters chromatin organisation and induces intestinal autophagy through transcriptional regulation to prevent age-related decline in the intestine and extend lifespan.
    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.

Refine your results by:

Type
Research categories