Summary: This Editorial discusses the importance of model systems with accurate face, construct, target and predictive validity for rare disease research.
Summary: In this Special Article, the author reflects on the potential of the Human Cell Atlas project for improving our understanding of disease.
Summary: Investigation of the crosstalk between the Wnt and other signaling pathways will improve understanding of orofacial cleft development and provide opportunities for treatment and prevention.
Differential regulation of the unfolded protein response in outbred deer mice and susceptibility to metabolic disease
Summary: By using genetically diverse deer mice, we show that the expression of different chaperones is highly coordinated in individual animals and its profile predicts the onset of metabolic pathology.
Summary: Through a zebrafish model, this study demonstrates that leptin plays an important role in cancer-induced muscle wasting and that the leptin pathway may be a therapeutic target in cancer cachexia.
Summary: VPS13A, which is implicated in chorea-acanthocytosis, is essential for efficient lysosomal degradation, while localized in close association with mitochondria. We propose that inter-organelle communication may be relevant in the pathogenesis of the disease.
Loss of Frrs1l disrupts synaptic AMPA receptor function, and results in neurodevelopmental, motor, cognitive and electrographical abnormalities
Summary: Loss of the epilepsy-related gene Frrs1l in mice causes a dramatic reduction in AMPA receptor levels at the synapse, eliciting severe motor and coordination disabilities, hyperactivity and cognitive defects, with some evidence of behavioural seizures.
Serotonin inhibits axonal regeneration of identifiable descending neurons after a complete spinal cord injury in lampreys
Summary: Pharmacological and genetic manipulations show that endogenous serotonin inhibits axonal regeneration of individually identifiable descending neurons of lampreys after a complete spinal cord injury.
ApoE-associated modulation of neuroprotection from Aβ-mediated neurodegeneration in transgenic Caenorhabditis elegans
Summary: We report new humanized nematode models of amyloid-beta and apolipoprotein E gene expression, examining readouts for neurodegeneration, behavior, cellular function and survival, to elucidate the relative contributions of the proteins to the underlying pathology of Alzheimer's disease.
Early detection of pre-malignant lesions in a KRASG12D-driven mouse lung cancer model by monitoring circulating free DNA
Summary: A liquid biopsy approach is capable of tracking early lung cancer lesions, before the adenoma-adenocarcinoma transition, in an early lung cancer mouse model driven by a KRAS mutation.
Summary: Double-hit exposure to the anti-angiogenic factor soluble fms-like tyrosine kinase and the pro-inflammatory endotoxin lipopolysaccharide in mice provides a novel, comprehensive model of pre-eclampsia, which leads to sex-specific metabolomic differences in fetuses.
SOD1 activity threshold and TOR signalling modulate VAP(P58S) aggregation via reactive oxygen species-induced proteasomal degradation in a Drosophila model of amyotrophic lateral sclerosis
Summary: ALS8/VAPB(P58S) aggregates appear to be cleared by an increase in cellular reactive oxygen species, which, in turn, triggers proteasomal degradation.
Liver-specific insulin receptor isoform A expression enhances hepatic glucose uptake and ameliorates liver steatosis in a mouse model of diet-induced obesity
Summary: Adeno-associated-virus-mediated gene therapy for insulin receptor isoform A expression in the liver improves glucose disposal and alleviates lipid accumulation in wild-type mice under a high-fat diet.
A yeast-based screening assay identifies repurposed drugs that suppress mitochondrial fusion and mtDNA maintenance defects
Editor's choice: Mitochondria are conserved among eukaryotes and mutations in the factors that control their dynamics are causal for various human disorders. Hence, yeast models can be used for pharmacological screenings.