14 results found
    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. 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. Cell Biology
    2. Neuroscience

    Ataxin-7 and Non-stop coordinate SCAR protein levels, subcellular localization, and actin cytoskeleton organization

    Veronica Cloud et al.
    An unbiased biochemical screen reveals a direct link between gene regulation and actin cytoskeleton remodeling.
    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. Developmental Biology
    2. Chromosomes and Gene Expression

    Patient-specific iPSC-derived photoreceptor precursor cells as a means to investigate retinitis pigmentosa

    Budd A Tucker et al.
    Skin cells from a patient with retinitis pigmentosa have been used to generate induced pluripotent stem cells, which could potentially form the basis of new treatments for this disease.

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