141 results found
    1. Neuroscience

    Homeostatic plasticity fails at the intersection of autism-gene mutations and a novel class of common genetic modifiers

    Özgür Genç et al.
    Forward genetic screens define a novel genetic landscape by which diverse, unrelated autism risk genes may converge to commonly affect the robustness of synaptic transmission.
    1. Stem Cells and Regenerative Medicine

    Bioengineered human myobundles mimic clinical responses of skeletal muscle to drugs

    Lauran Madden et al.
    A novel bioengineered human skeletal muscle model with accurate physiological and pharmacological responses may provide a useful tool for preclinical testing.
    1. Developmental Biology
    2. Neuroscience

    Alternative splicing at neuroligin site A regulates glycan interaction and synaptogenic activity

    Shinichiro Oku et al.
    Inclusion of a neuroligin alternatively spliced insert that interacts with a neurexin glycan modification promote development of functional synaptic connections between neurons and may help alleviate consequences of NLGN mutations.
    1. Neuroscience

    SARM1 depletion rescues NMNAT1-dependent photoreceptor cell death and retinal degeneration

    Yo Sasaki et al.
    A mouse model of retinal degeneration reveals a common mechanism for axonal degeneration and photoreceptor cell death and identifies SARM1 as a therapeutic candidate for retinopathies.
    1. Medicine
    2. Immunology and Inflammation

    Identification of novel, clinically correlated autoantigens in the monogenic autoimmune syndrome APS1 by proteome-wide PhIP-Seq

    Sara E Vazquez et al.
    Humans with mutations in the AIRE gene exhibit common autoantibodies targeting ovarian and intestinal antigens, including intestinal dysfunction-associated antibodies to enteroendocrine transcription factor RFX6.
    1. Neuroscience

    ERG-28 controls BK channel trafficking in the ER to regulate synaptic function and alcohol response in C. elegans

    Kelly H Oh et al.
    An endoplasmic reticulum membrane protein regulates synaptic transmission, alcohol sensitivity, and gene expression by controlling the trafficking of a calcium-activated potassium channel.
    1. Developmental Biology
    2. Genetics and Genomics

    Smchd1 is a maternal effect gene required for genomic imprinting

    Iromi Wanigasuriya et al.
    Imprinted gene expression is set up during a critical window of early embryonic development, by the translation of parental imprints by oocyte-supplied Smchd1 into allele-specific gene silencing.
    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. Cell Biology

    Accelerated phosphatidylcholine turnover in macrophages promotes adipose tissue inflammation in obesity

    Kasparas Petkevicius et al.
    Obesity leads to increased phosphatidylcholine turnover in adipose tissue macrophages that makes them susceptible to saturated fatty acid-induced inflammation.
    1. Chromosomes and Gene Expression
    2. Genetics and Genomics

    Distinct roles for S. cerevisiae H2A copies in recombination and repeat stability, with a role for H2A.1 threonine 126

    Nealia CM House et al.
    Despite differing by only one amino acid in the C-terminal tail, copy 1 of yeast histone 2A has a repair-specific role not shared by copy 2.

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