13 results found
    1. Human Biology and Medicine
    2. Neuroscience

    Inducible and reversible phenotypes in a novel mouse model of Friedreich’s Ataxia

    Vijayendran Chandran et al.
    Restoration of endogenous frataxin levels reverses neurologic and cardiac phenotypes associated with Friedreich's ataxia in adult mice even after significant motor dysfunction.
    1. Neuroscience

    Charcot-Marie-Tooth 2B mutations in rab7 cause dosage-dependent neurodegeneration due to partial loss of function

    Smita Cherry et al.
    Mutations that reduce the functioning of rab7 may underlie the degeneration of sensory and motor nerves in Charcot-Marie-Tooth 2B disease, which suggests increasing endolysosomal function as a 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. Cell Biology

    Phospholipase D activity couples plasma membrane endocytosis with retromer dependent recycling

    Rajan Thakur et al.
    Phosphatidic acid regulates recycling of endocytosed plasma membrane vesicles in polarized cells through a retromer and Arf1 dependent process.
    1. Neuroscience

    Guanylate cyclase 1 relies on rhodopsin for intracellular stability and ciliary trafficking

    Jillian N Pearring et al.
    Rather than relying on intrinsic intracellular targeting information, the key phototransduction enzyme guanylate cyclase 1 is delivered to the photosensory cilium with the visual pigment rhodopsin.
    1. Human Biology and Medicine
    2. Neuroscience

    Impaired ABCA1/ABCG1-mediated lipid efflux in the mouse retinal pigment epithelium (RPE) leads to retinal degeneration

    Federica Storti et al.
    Lipid efflux by the retinal pigment epithelium is crucial for proper retinal integrity and function, and its impairment may contribute to diseases like age-related macular degeneration.
    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. Genetics and Genomics
    2. Neuroscience

    Epigenomic landscapes of retinal rods and cones

    Alisa Mo et al.
    Genome-wide analysis of DNA methylation and accessible chromatin shows that retinal rods and cones have distinct epigenomic features that reflect differences in their development and function.
    1. Biochemistry and Chemical Biology
    2. Structural Biology and Molecular Biophysics

    A recombinant BBSome core complex and how it interacts with ciliary cargo

    Björn Udo Klink et al.
    Six BBS proteins form a core BBSome transport vehicle, which is sufficient for recognizing membrane proteins for transport into the ciliary compartment.
    1. Cell Biology

    Dynein-2 intermediate chains play crucial but distinct roles in primary cilia formation and function

    Laura Vuolo et al.
    Genetic knock-outs of the dynein-2 intermediate chains reveals that both are essential for correct cilia function and transition zone organization, but play different functions in the assembly of dynein-2 motor and in primary cilia formation.

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