10 results found
    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. 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. 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. 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.
    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.

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