49 results found
    1. Neuroscience

    UBE3A-mediated p18/LAMTOR1 ubiquitination and degradation regulate mTORC1 activity and synaptic plasticity

    Jiandong Sun et al.
    A new mechanism linking lysosomes to mTOR regulation and synaptic plasticity involves p18 ubiquitination by Ube3a, and underlies some of the pathology observed in Angelman syndrome.
    1. Neuroscience

    Sex differences in cerebellar synaptic transmission and sex-specific responses to autism-linked Gabrb3 mutations in mice

    Audrey A Mercer et al.
    Male and female mice differ in basal cerebellar physiology, including the magnitude of synaptic excitation by metabotropic glutamate receptors, kinetics of synaptic inhibition, intrinsic properties, and responses to autism-linked mutations.
    1. Developmental Biology
    2. Genetics and Genomics

    2018 Gairdner Awards: The discovery and importance of genomic imprinting

    Anne C Ferguson-Smith, Deborah Bourc'his
    Research into genomic imprinting has provided a foundation for the study of epigenetic mechanisms, especially during development, and has also shed light on a range of rare genetic disorders and common diseases.
    1. Epidemiology and Global Health
    2. Medicine

    Estimates of the global burden of Japanese encephalitis and the impact of vaccination from 2000-2015

    Tran Minh Quan et al.
    Modelling analysis reveals the burden of Japanese Encephalitis is greater than previously thought, and although vaccination has reduced burden, there are remaining places with a great need for vaccination.
    1. Neuroscience

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

    Vincenzo A Gennarino et al.
    Individuals with deletions or duplications of the NUDT21 gene have altered levels of MeCP2 protein and intellectual disabilities.
    1. Biochemistry and Chemical Biology
    2. Structural Biology and Molecular Biophysics

    Mechanism of ubiquitin ligation and lysine prioritization by a HECT E3

    Hari B Kamadurai et al.
    Structural studies reveal the mechanism by which a HECT E3 ubiquitin ligase carries out E2-to-E3-to-substrate ubiquitin transfer and prioritizes target lysines for ubiquitination.
    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. Neuroscience

    Beyond excitation/inhibition imbalance in multidimensional models of neural circuit changes in brain disorders

    Cian O'Donnell et al.
    Computational modeling and analysis of mouse neural population data finds that the excitation/inhibition imbalance theory of brain disorders is too limited to account for key changes in neural activity statistics.
    1. Neuroscience

    Mouse models of human PIK3CA-related brain overgrowth have acutely treatable epilepsy

    Achira Roy et al.
    Acute one-hour treatment of Pik3ca mutant mice with a novel anti-epilepsy drug suppresses seizures despite continued developmental brain dysmorphology, promising a new therapeutic strategy for patients with intractable pediatric epilepsy.
    1. Chromosomes and Gene Expression

    Reassessment of the involvement of Snord115 in the serotonin 2c receptor pathway in a genetically relevant mouse model

    Jade Hebras et al.
    Knockout of Snord115 has mild impact on expression and function of the serotonin 2C receptor.

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