12 results found
    1. Cell Biology
    2. Neuroscience

    Genetic disruption of WASHC4 drives endo-lysosomal dysfunction and cognitive-movement impairments in mice and humans

    Jamie L Courtland et al.
    Cellular etiology of a human WASH complex mutation in mice reveals its specific roles in neuronal organelle trafficking and a surprising role in motor impairments.
    1. Immunology and Inflammation
    2. Neuroscience

    Differential accumulation of storage bodies with aging defines discrete subsets of microglia in the healthy brain

    Jeremy Carlos Burns et al.
    Two novel subsets of microglia identified by their unique autofluorescence profiles differ in their subcellular organization, proteomic signatures and in their response to aging and lysosomal dysfunction.
    1. Biochemistry and Chemical Biology
    2. Structural Biology and Molecular Biophysics

    Divergent Cl- and H+ pathways underlie transport coupling and gating in CLC exchangers and channels

    Lilia Leisle et al.
    Combined simulations and electrophysiological experiments show that the CLC channels and exchangers form physically distinct and evolutionarily conserved pathways through which Cl- and H+ ions move when crossing biological membranes.
    1. Neuroscience

    A Drosophila model of neuronal ceroid lipofuscinosis CLN4 reveals a hypermorphic gain of function mechanism

    Elliot Imler et al.
    Genetic analysis of a CLN4 Drosophila model suggests that the disease-causing alleles act as dominant gain of function mutations that cause CSPα oligomerization and impair secretory and prelysosomal trafficking.
    1. Neuroscience

    Neurodegeneration: Fly model sheds light on brain disease

    Martin H Berryer et al.
    Experiments on flies suggest that a gain-of-function mechanism in a protein called CSPɑ contributes to the progressive brain disease CLN4.
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    1. Neuroscience

    Developmental NMDA receptor dysregulation in the infantile neuronal ceroid lipofuscinosis mouse model

    Kevin P Koster et al.
    NMDA receptor function is regulated by protein depalmitoylation during visual cortical maturation and is dysfunctional in infantile neuronal ceroid lipofuscinosis.
    1. Cell Biology

    Mitochondrial biogenesis is transcriptionally repressed in lysosomal lipid storage diseases

    King Faisal Yambire et al.
    Transcription factors KLF2 and ETV1 repress the transcriptional program of mitochondrial biogenesis, resulting in impaired mitochondrial function in lysosomal storage diseases.
    1. Biochemistry and Chemical Biology

    Selective agonist of TRPML2 reveals direct role in chemokine release from innate immune cells

    Eva Plesch et al.
    Direct and selective activation of TRPML2 promotes macrophage migration through release of CCL2.
    1. Neuroscience

    Defective synaptic transmission causes disease signs in a mouse model of juvenile neuronal ceroid lipofuscinosis

    Benedikt Grünewald et al.
    Impaired GABAergic and glutamatergic synaptic function and loss of interneurons in the amygdala, hippocampus, and cerebellum cause characteristic disease symptoms in a mouse model juvenile neuronal ceroid lipofuscinosis.
    1. Cell Biology

    High lumenal chloride in the lysosome is critical for lysosome function

    Kasturi Chakraborty et al.
    Lysosomes are highly enriched in chloride, which is essential for their degradative function.

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