172 results found
    1. Genetics and Genomics
    2. Medicine

    Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays

    Xueyang Pan, Albert N Alvarez ... Hugo J Bellen
    A comprehensive platform is established for the evaluation of both current and future individuals afflicted with the UBA5-associated developmental and epileptic encephalopathy.
    1. Evolutionary Biology
    2. Genetics and Genomics

    Evolutionary rescue of phosphomannomutase deficiency in yeast models of human disease

    Ryan C Vignogna, Mariateresa Allocca ... Gregory I Lang
    Experimental evolution of yeast models of congenital disorders of glycosylation reveals that reduction, but not loss, of phosphoglucomutase activity best compensates for impaired phosphomannomutase activity.
    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. Immunology and Inflammation
    2. Microbiology and Infectious Disease

    A potent human neutralizing antibody Fc-dependently reduces established HBV infections

    Dan Li, Wenhui He ... Jianhua Sui
    A novel and potent receptor-binding-blockage human neutralizing antibody prevents HBV infection, and suppresses HBV infection therapeutically in HBV-infected mice.
    1. Immunology and Inflammation

    Distinct impact of IgG subclass on autoantibody pathogenicity in different IgG4-mediated diseases

    Yanxia Bi, Jian Su ... Fubin Li
    The IgG4 subclass, previously considered anti-inflammatory due to its weak effector function, could either reduce or exacerbate autoantibody pathogenicity in the context of different IgG4-mediated autoimmune diseases.
    1. Microbiology and Infectious Disease

    Longitudinal imaging of HIV-1 spread in humanized mice with parallel 3D immunofluorescence and electron tomography

    Collin Kieffer, Mark S Ladinsky ... Pamela J Bjorkman
    Combined tissue clearing, 3D-immunofluorescence, and electron tomography spatially revealed the dynamics of early HIV-1 spread within lymphoid tissues of humanized mice at the resolution of single cells and individual virions.
    1. Immunology and Inflammation

    Human Fcγ-receptor IIb modulates pathogen-specific versus self-reactive antibody responses in lyme arthritis

    Heike Danzer, Joachim Glaesner ... Falk Nimmerjahn
    In the absence of human FcgRIIb function, an infection with Borrelia burgdorferi triggers enhanced autoreactive immune responses in humanized mice in vivo.
    1. Evolutionary Biology

    Reduced purine biosynthesis in humans after their divergence from Neandertals

    Vita Stepanova, Kaja Ewa Moczulska ... Svante Pääbo
    Purine biosynthesis is reduced in humans due to a single amino acid substitution in adenylosuccinate lyase that occurred subsequent to the divergence of modern humans from Neandertals.
    1. Immunology and Inflammation
    2. Neuroscience

    Spontaneous human CD8 T cell and autoimmune encephalomyelitis-induced CD4/CD8 T cell lesions in the brain and spinal cord of HLA-DRB1*15-positive multiple sclerosis humanized immune system mice

    Irini Papazian, Maria Kourouvani ... Lesley Probert
    Severely immunodeficient B2m-NOG mice transplanted with human peripheral blood mononuclear cells from multiple sclerosis patients partially reproduce disease immunopathology and represent novel experimental models for studying human immune responses to the central nervous system in a rapid and personalized manner.
    1. Microbiology and Infectious Disease

    Human monoclonal antibodies against Staphylococcus aureus surface antigens recognize in vitro and in vivo biofilm

    Lisanne de Vor, Bruce van Dijk ... Suzan HM Rooijakkers
    Antibody-based biologicals could provide an alternative approach to improve the diagnosis of Staphylococcus aureus biofilm-related infections.

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