175 results found
    1. Cell Biology
    2. Neuroscience

    Mouse Tmem135 mutation reveals a mechanism involving mitochondrial dynamics that leads to age-dependent retinal pathologies

    Wei-Hua Lee, Hitoshi Higuchi ... Akihiro Ikeda
    The murine protein TMEM135 is a critical link between aging and age-dependent diseases.
    1. Cell Biology
    2. Medicine

    Proposed therapy, developed in a Pcdh15-deficient mouse, for progressive loss of vision in human Usher syndrome

    Saumil Sethna, Wadih M Zein ... Zubair M Ahmed
    A preclinical study using exogenous retinoids in a novel Usher syndrome 1F mouse model reveals a possible therapy to treat mutant PCDH15-mediated visual dysfunction.
    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, Yu Zhang ... Tingting Yang
    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. Neuroscience

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

    Federica Storti, Katrin Klee ... Christian Grimm
    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. Immunology and Inflammation

    Distinct effects of complement and of NLRP3- and non-NLRP3 inflammasomes for choroidal neovascularization

    Jakob Malsy, Andrea C Alvarado ... Alexander G Marneros
    Characterization of the effects of complement- and inflammasome-mediated inflammation on choroidal neovascularization in a mouse model of neovascular age-related macular degeneration suggests synergistic benefits from targeting both forms of inflammation.
    1. Neuroscience

    SARM1 depletion rescues NMNAT1-dependent photoreceptor cell death and retinal degeneration

    Yo Sasaki, Hiroki Kakita ... Jeffrey Milbrandt
    A mouse model of retinal degeneration reveals a common mechanism for axonal degeneration and photoreceptor cell death and identifies SARM1 as a therapeutic candidate for retinopathies.
    1. Neuroscience

    Disturbed retinoid metabolism upon loss of rlbp1a impairs cone function and leads to subretinal lipid deposits and photoreceptor degeneration in the zebrafish retina

    Domino K Schlegel, Srinivasagan Ramkumar ... Stephan CF Neuhauss
    The retinoid-binding protein RLBP1 in the retinal pigment epithelium is crucially involved in cone photoreceptor visual pigment recycling and mimics the human eye disease with retinal lipid deposits when mutated.
    1. Genetics and Genomics

    Allele-specific gene-editing approach for vision loss restoration in RHO-associated retinitis pigmentosa

    Xiaozhen Liu, Jing Qiao ... Liping Yang
    The allele-specific gene-editing drug is expected to make RHO-T17M-associated retinitis pigmentosa therapy a reality.
    1. Epidemiology and Global Health

    Prediction of diabetic kidney disease risk using machine learning models: A population-based cohort study of Asian adults

    Charumathi Sabanayagam, Feng He ... Ching Yu Cheng
    Integrating machine learning (ML) models with selected features improved the prediction accuracy of diabetic kidney disease compared to traditional logistic regression models using established features, revealing potential new markers and supporting the use of ML techniques in epidemiological studies.
    1. Neuroscience

    Nemo-like kinase is a novel regulator of spinal and bulbar muscular atrophy

    Tiffany W Todd, Hiroshi Kokubu ... Janghoo Lim
    Nemo-like kinase is a key protein promoting the pathogenesis of spinal and bulbar muscular atrophy.

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