56 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. 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. Neuroscience

    A deleterious Nav1.1 mutation selectively impairs telencephalic inhibitory neurons derived from Dravet Syndrome patients

    Yishan Sun et al.
    A human cellular model of a prototypical form of intractable childhood epilepsy supports selective impairment of inhibitory neurons as a key pathophysiological mechanism.
    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. 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. 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. Neuroscience
    2. Stem Cells and Regenerative Medicine

    Dyshomeostatic modulation of Ca2+-activated K+ channels in a human neuronal model of KCNQ2 encephalopathy

    Dina Simkin et al.
    An inducedpluripotent stem cell (iPSC)-based model of KCNQ2-associated developmental epileptic encephalopathy suggests that disease is driven by dyshomeostaic neuronal mechanisms that are downstream of loss of M-current.
    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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