71 results found
    1. Structural Biology and Molecular Biophysics

    Patient-specific mutations impair BESTROPHIN1’s essential role in mediating Ca2+-dependent Cl- currents in human RPE

    Yao Li et al.
    A multidisciplinary platform featured by patient-derived RPEs is established to study the disease-causing mechanisms of BEST1 mutations, and demonstrates gene-supplemented rescue of the mutation-caused deficiency in Ca2+-dependent Cl- current in human RPE.
    1. Cell Biology

    CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels

    André Brás Gonçalves et al.
    Analysis of mutant cells combined with biochemical experiments reveals that CEP78 is recruited to the centrosome by CEP350 and regulates ciliogenesis and ciliary length control through CP110-dependent and CP110-independent mechanisms, respectively.
    1. Cell Biology
    2. Neuroscience

    Hypoxia-induced metabolic stress in retinal pigment epithelial cells is sufficient to induce photoreceptor degeneration

    Toshihide Kurihara et al.
    Mouse models in which hypoxia can be genetically triggered in retinal pigmented epithelial cells show that hypoxia-induced metabolic stress alone can lead to photoreceptor atrophy/dysfunction.
    1. Structural Biology and Molecular Biophysics

    Distinct expression requirements and rescue strategies for BEST1 loss- and gain-of-function mutations

    Qingqing Zhao et al.
    BEST1 autosomal dominant loss-of-function mutations surprisingly behave in a dominant-negative manner, whereas gain-of-function mutations exhibit a strong dominant effect that necessitates CRISPR/Cas9-mediated suppression of the endogenous mutant allele in gene therapy.
    1. Neuroscience

    A quantitative framework for whole-body coordination reveals specific deficits in freely walking ataxic mice

    Ana S Machado et al.
    Analysis of 3D paw kinematics and whole-body coordination in freely walking mice isolates specific features of gait ataxia and supports the hypothesis that the cerebellum provides an internal forward model for motor control.
    1. Biochemistry and Chemical Biology
    2. Neuroscience

    Post-translational regulation of retinal IMPDH1 in vivo to adjust GTP synthesis to illumination conditions

    Anna Plana-Bonamaisó et al.
    The nucleotide sensing ability of IMPDH1 at the Bateman domain is regulated by light-dependent phosphorylation in the retina, to adjust GTP synthesis to illumination conditions.
    1. Neuroscience

    Small molecule Photoregulin3 prevents retinal degeneration in the RhoP23H mouse model of retinitis pigmentosa

    Paul A Nakamura et al.
    Regulating rod gene expression with a small molecule ligand for the orphan nuclear receptor Nr2e3 rescues photoreceptors from degeneration in a mouse model of retinitis pigmentosa.
    1. Cell Biology
    2. Computational and Systems Biology

    Science Forum: The Human Cell Atlas

    Aviv Regev et al.
    Advances in techniques for analysing single cells and tissues have inspired an international effort to create comprehensive reference maps of all human cells - the fundamental units of life - as a basis for both understanding human health and diagnosing, monitoring and treating disease.
    1. Structural Biology and Molecular Biophysics

    Ligand discrimination and gating in cyclic nucleotide-gated ion channels from apo and partial agonist-bound cryo-EM structures

    Jan Rheinberger et al.
    High resolution SthK channel cryo-EM structures in different ligand-bound states combined with single-channel functional data in the same conditions constrain a gating mechanism for CNG channels.
    1. Structural Biology and Molecular Biophysics

    Molecular structures of the eukaryotic retinal importer ABCA4

    Fangyu Liu et al.
    The structures of ABCA4 in two conformations provide a framework to understand its transport mechanism.

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