313 results found
    1. Neuroscience

    Large-scale animal model study uncovers altered brain pH and lactate levels as a transdiagnostic endophenotype of neuropsychiatric disorders involving cognitive impairment

    Hideo Hagihara, Hirotaka Shoji ... Tsuyoshi Miyakawa
    Brain lactate and pH changes, identified as common features in diverse neuropsychiatric animal models, may represent transdiagnostic endophenotypes associated with cognitive impairment.
    1. Neuroscience

    Forniceal deep brain stimulation induces gene expression and splicing changes that promote neurogenesis and plasticity

    Amy E Pohodich, Hari Yalamanchili ... Huda Y Zoghbi
    Forniceal deep brain stimulation is a promising treatment for several neuropsychiatric disorders as it upregulates synaptic and neurogenesis-associated genes, normalizes genes misregulated in Rett syndrome mice, and regulates genes altered in intellectual disability and major depression.
    1. Neuroscience

    Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment

    Cemre Celen, Jen-Chieh Chuang ... Hao Zhu
    Mirroring human patients with ARID1B mutations, Arid1b haploinsufficient mice exhibited numerous neuropsychiatric defects and revealed IGF1 deficiency related growth impairment that could be ameliorated with growth hormone supplementation.
    1. Neuroscience

    Disruption of Nrxn1α within excitatory forebrain circuits drives value-based dysfunction

    Opeyemi O Alabi, M Felicia Davatolhagh ... Marc Vincent Fuccillo
    Disruption of the disease-associated synaptic adhesion molecule Neurexin1a in cortical excitatory neurons perturbs decision making and disrupts value-associated neural activity in downstream striatal circuits.
    1. Neuroscience

    Isoform-specific roles for AKT in affective behavior, spatial memory, and extinction related to psychiatric disorders

    Helen Wong, Josien Levenga ... Charles Hoeffer
    Murine behavioral testing and biochemical experiments reveal AKT isoform- and sex-dependent mechanisms regulating affective behavior, memory formation, and extinction.
    1. Medicine
    2. Neuroscience

    Sleep EEG in young people with 22q11.2 deletion syndrome: A cross-sectional study of slow-waves, spindles and correlations with memory and neurodevelopmental symptoms

    Nicholas A Donnelly, Ullrich Bartsch ... Matt W Jones
    Measures of sleep features such as spindles and slow waves differentiate between young people with 22q11.2 microdeletion syndrome and healthy controls, and may mediate the relationship between this genotype and psychiatric symptoms.
    1. Neuroscience

    Early structural and functional plasticity alterations in a susceptibility period of DYT1 dystonia mouse striatum

    Marta Maltese, Jennifer Stanic ... Antonio Pisani
    Structural and functional striatal synaptic plasticity abnormalities occur early in a sensitive developmental period, representing a potential unique endophenotypic traits that increase the risk of manifesting clinical symptoms in DYT1 mutation carriers.
    1. Neuroscience

    Neurexins in serotonergic neurons regulate neuronal survival, serotonin transmission, and complex mouse behaviors

    Amy Cheung, Kotaro Konno ... Kensuke Futai
    Neurexins are presynaptic adhesion molecules in the serotonin system which regulate neuron survival and serotonin neuromodulation through active zone formation and serotonin release.
    1. Genetics and Genomics
    2. Medicine

    KDM5A mutations identified in autism spectrum disorder using forward genetics

    Lauretta El Hayek, Islam Oguz Tuncay ... Maria H Chahrour
    Successful autism spectrum disorder gene discovery using forward genetics identifies KDM5A, which encodes a histone H3 lysine 4 demethylase, as a disease gene.
    1. Neuroscience

    NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation

    Vincenzo A Gennarino, Callison E Alcott ... Huda Y Zoghbi
    Individuals with deletions or duplications of the NUDT21 gene have altered levels of MeCP2 protein and intellectual disabilities.

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