5,923 results found
    1. Biochemistry and Chemical Biology
    2. Structural Biology and Molecular Biophysics

    A structure of substrate-bound Synaptojanin1 provides new insights in its mechanism and the effect of disease mutations

    Jone Paesmans et al.
    Structural and biochemical data suggest a mechanism for the Synaptojanin1-catalysed reaction and the role of mutations in the onset of associated neurological diseases.
    1. Biochemistry and Chemical Biology
    2. Medicine

    Unexpected similarities between C9ORF72 and sporadic forms of ALS/FTD suggest a common disease mechanism

    Erin G Conlon et al.
    Idiopathic patients along a complex motor neuron disease-dementia spectrum exhibit mRNA splicing changes that are due to multi-protein insolubility.
    1. Neuroscience

    Mechanisms of hyperexcitability in Alzheimer’s disease hiPSC-derived neurons and cerebral organoids vs isogenic controls

    Swagata Ghatak et al.
    Increased excitation and decreased inhibition associated with abnormal neuronal morphology, aberrant ion channel properties, and synaptic dysfunction contribute to hyperexcitability in Alzheimer’s disease hiPSC-derived neuronal cultures and cerebral organoids.
    1. Biochemistry and Chemical Biology
    2. Structural Biology and Molecular Biophysics

    Structure of PINK1 and mechanisms of Parkinson's disease-associated mutations

    Atul Kumar et al.
    The structure of human PINK1 explains structural regulation and clarity on the impact of loss of function disease-associated mutations, which may stimulate future drug discovery efforts for both familial and idiopathic Parkinson's disease.
    1. Neuroscience

    Mutant huntingtin impairs PNKP and ATXN3, disrupting DNA repair and transcription

    Rui Gao et al.
    Polyglutamine expansion in mutant huntingtin disrupts a novel transcription-coupled DNA repair complex, providing an undescribed mechanism of neuronal toxicity and degeneration in Huntington's disease.
    1. Biochemistry and Chemical Biology
    2. Structural Biology and Molecular Biophysics

    Moyamoya disease factor RNF213 is a giant E3 ligase with a dynein-like core and a distinct ubiquitin-transfer mechanism

    Juraj Ahel et al.
    RNF213 is a giant E3 ligase with a dynein-like core and a unique ubiquitination mechanism that proceeds in a RING-independent manner and is linked with the Moyamoya disease.
    1. Cell Biology
    2. Developmental Biology

    Cellular aspect ratio and cell division mechanics underlie the patterning of cell progeny in diverse mammalian epithelia

    Kara L McKinley et al.
    The process of cytokinesis can allow cell lineages to intermix in mammalian epithelia, and cellular aspect ratio is a critical modulator of this behavior.
    1. Computational and Systems Biology
    2. Evolutionary Biology

    Deep evolutionary analysis reveals the design principles of fold A glycosyltransferases

    Rahil Taujale et al.
    Deep mining of GT-A fold sequences provides an evolutionary framework for investigating complex relationships connecting GT-A fold sequence, structure, function and regulation.
    1. Immunology and Inflammation

    LRRC8A is essential for hypotonicity-, but not for DAMP-induced NLRP3 inflammasome activation

    Jack P Green et al.
    Depletion of LRRC8A provides genetic evidence for the importance of Cl- channels in NLRP3 activation.
    1. Neuroscience

    Defined neuronal populations drive fatal phenotype in a mouse model of Leigh syndrome

    Irene Bolea et al.
    Glutamatergic brainstem neurons drive motor and respiratory deficits, and GABAergic basal ganglia neurons cause hypothermia and fatal epileptic events, in a model of mitochondrial disease.

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