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    1. Medicine
    2. Neuroscience

    Two de novo GluN2B mutations affect multiple NMDAR-functions and instigate severe pediatric encephalopathy

    Shai Kellner et al.
    Two novel mutations in the GRIN2B gene reduce glutamate affinity by >1000-fold, reduce the receptors proton-sensitivity, and exert a dominant-negative effect over receptors in neurons.
    1. Biochemistry and Chemical Biology
    2. Neuroscience

    Post-translational regulation of retinal IMPDH1 in vivo to adjust GTP synthesis to illumination conditions

    Anna Plana-Bonamaisó et al.
    The nucleotide sensing ability of IMPDH1 at the Bateman domain is regulated by light-dependent phosphorylation in the retina, to adjust GTP synthesis to illumination conditions.
    1. Genetics and Genomics

    Background selection and biased gene conversion affect more than 95% of the human genome and bias demographic inferences

    Fanny Pouyet et al.
    Background selection and GC-biased gene conversion impact the human genome to a much larger extent than previously recognized in low and high recombination rate regions, respectively.
    1. Biochemistry and Chemical Biology
    2. Cell Biology

    A non-canonical mechanism for Crm1-export cargo complex assembly

    Ute Fischer et al.
    Slx9 is a newly discovered type of RanGTP-binding protein required for Crm1-mediated nuclear export.
    1. Structural Biology and Molecular Biophysics

    Thermal fluctuations of immature SOD1 lead to separate folding and misfolding pathways

    Ashok Sekhar et al.
    Solution NMR spectroscopy reveals the energy landscape of immature Cu, Zn-superoxide dismutase and leads to atomic resolution structural models of transiently populated non-native oligomers.
    1. Developmental Biology

    NKX2-5 mutations causative for congenital heart disease retain functionality and are directed to hundreds of targets

    Romaric Bouveret et al.
    Some NKX2-5 mutations that cause congenital heart disease retain transcriptional activity and can bind to many off-target genes, in part through their interactions with cofactors.
    1. Epidemiology and Global Health

    FnCas9-based CRISPR diagnostic for rapid and accurate detection of major SARS-CoV-2 variants on a paper strip

    Manoj Kumar et al.
    A newly developed lateral flow assay can diagnose mutational signatures of major SARS CoV-2 variants in a rapid, inexpensive, and sequence-free manner.
    1. Cancer Biology
    2. Cell Biology

    MAPK activity dynamics regulate non-cell autonomous effects of oncogene expression

    Timothy J Aikin et al.
    The temporal patterns of MAPK activity differentially regulate cell autonomous and non-cell autonomous effects of oncogene expression.
    1. Cell Biology

    Miga-mediated endoplasmic reticulum–mitochondria contact sites regulate neuronal homeostasis

    Lingna Xu et al.
    Increasing endoplasmic reticulum (ER)–mitochondria contact sites leads to neurodegeneration.
    1. Genetics and Genomics

    Germline burden of rare damaging variants negatively affects human healthspan and lifespan

    Anastasia V Shindyapina et al.
    Rare highly damaging mutations that are present in most human genomes decrease lifespan and are associated with an earlier onset of chronic diseases.