A comprehensive platform is established for the evaluation of both current and future individuals afflicted with the UBA5-associated developmental and epileptic encephalopathy.
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.
A novel and potent receptor-binding-blockage human neutralizing antibody prevents HBV infection, and suppresses HBV infection therapeutically in HBV-infected mice.
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.
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.
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.
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.
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.