Summary: This article reviews and analyzes the available preclinical models for five common neonatal diseases to direct therapeutic development in these areas of high unmet medical need.
Summary: Craniosynostosis has broad clinical manifestations and a complex etiology. We review studies from humans and animal models and discuss the developmental mechanisms of craniosynostosis and potential mesenchymal stem cell-based suture regeneration therapeutic strategies.
New Drosophila models to uncover the intrinsic and extrinsic factors that mediate the toxicity of the human prion protein
Summary: New Drosophila models of prion diseases show the high toxicity of human PrP compared to rodent PrP and identify genetic modifiers and protective residues.
Summary: PLCB4 variants associated with auriculocondylar syndrome act in a dominant-negative manner to cause craniofacial defects that include both homeotic and atavistic changes in mice and humans.
Physiological tissue-specific and age-related reduction of mouse TDP-43 levels is regulated by epigenetic modifications
Summary: Identification of a cause-effect relationship between epigenetic modifications that occur on the promoter and histones of mouse TARDBP and the level of TDP-43 both in tissues and in cell culture.
Development of a novel human intestinal model to elucidate the effect of anaerobic commensals on Escherichia coli infection
Summary: The new model system established in this study enables culture of human mucus-producing intestinal epithelia with oxygen-sensitive gut commensals and characterization of their effects on enteropathogenic E. coli infection.
Summary: TDP-43 co-pathology is a frequent feature of Alzheimer's disease. This paper shows that TDP-43 specifically enhances tau neurotoxicity, but not amyloid β, to promote pathological protein accumulation, behavioral impairment and selective neurodegeneration.
The Paget's disease of bone risk gene PML is a negative regulator of osteoclast differentiation and bone resorption
Summary:PML, a susceptibility gene for Paget's disease of bone, is a novel negative regulator of bone metabolism. The differentiation of osteoclasts and osteoblasts is enhanced in Pml−/− mice compared with controls.
Summary: Adipose tissue-specific ablation of PGC-1β impairs thermogenesis in murine brown fat owing to a reduced number of contacts between mitochondria and lipid droplets, possibly involving the L-form of optic atrophy 1 protein.
Summary: Macrophages contribute to both progression and resolution of chronic tissue injury and fibrogenesis. Administration of a macrophage growth factor promoted liver regeneration and resolution of advanced liver fibrosis in mice.
Summary: We studied the interactions of human Nrf2 in a novel budding yeast model. We recapitulate previously described Nrf2 interactions and discover that Nrf2 interacts with Hsp90, establishing yeast as a useful tool to study Nrf2 interactions.
Summary: Characterisation of the zebrafish endogenous retrovirus zferv reveals expression in early T cells and neurons, highlighting a potential role of endogenous retroviruses in brain development and immune disorders.
Editor's choice: We established zebrafish glioblastoma (GBM) xenograft models that can be used to perform genetic and biological analysis of GBMs, identify blood–brain barrier-penetrating drugs and predict clinical sensitivity to temozolomide in GBM patients.
Summary: Description of a spontaneous dog model and generation of a cohort carrying the most common DNM2 mutation associated with autosomal dominant centronuclear myopathy in humans.