Summary: Disease Models & Mechanisms announces the launch of a new Outstanding Resource Paper Prize. To mark the occasion, we highlight exciting recent Resource articles and discuss their importance for biomedical research.
Summary: Lack of reproducibility in animal studies continues to be a challenge, and improving this is a National Institutes of Health priority. Key strategies to enhance translatability are offered and discussed by The Jackson Laboratory investigators.
Summary: This Review discusses the unique enrichment of variants causing Finnish disease heritage disorders and the discovery of novel genotype–phenotype associations underlying monogenic and common complex diseases.
Summary: Cell therapies for Parkinson's disease have entered into first-in-human clinical trials. Here, we discuss pertinent outstanding questions that require consideration before widespread adoption of this therapeutic intervention and remain to be further explored.
Summary: This Review critically discusses the links between RAS signalling and ageing, and how RAS inhibitors could extend lifespan and enhance healthspan.
Integrated multi-omics analysis of Huntington disease identifies pathways that modulate protein aggregation
Summary: Metabolomic analysis of Huntington disease (HD) patients and of a HD yeast model identified deregulated metabolic pathways. We used the yeast model to investigate their role in the aggregation of huntingtin protein and their implications in HD.
Summary: Cell migration patterns are abnormal in neural precursors derived from bipolar disorder patients, which could contribute to the already known structural changes in the brain.
Lipopolysaccharide distinctively alters human microglia transcriptomes to resemble microglia from Alzheimer's disease mouse models
Summary: Using single-cell RNA sequencing to measure the induced pluripotent stem cell-derived microglia response, we find convergence between ATPγS and lipopolysaccharide (LPS)+IFN-γ; however, comparison to genetic mouse models indicates LPS as a better model for Alzheimer's disease.
Exocyst inactivation in urothelial cells disrupts autophagy and activates non-canonical NF-κB signaling
Summary: Targeted Exoc5 deletion in embryonic ureter urothelial progenitor cells impairs autophagy, causing Fn14 activation and urothelial cell death, with a lethal congenital obstructive uropathy rescuable by administration of a caspase inhibitor.
Summary: A pre-clinical model of acute respiratory distress syndrome (ARDS) in human-sized swine, which recapitulates the clinical, radiographic and histopathologic manifestations of ARDS, providing a tool to study therapies for this highly morbid lung disease.
Editor's choice: Epilepsy remains challenging to treat. In this study, we show that manipulating endogenous mechanisms that maintain stability of neuronal activity represents a possible route to better manage this disorder.
Stimulating the sir2–spargel axis rescues exercise capacity and mitochondrial respiration in a Drosophila model of Barth syndrome
Summary: Nicotinamide riboside rescues the exercise capacity and mitochondrial function of a Drosophila model of Barth syndrome in a Sir2/Spargel-dependent manner.
An adherent-invasive Escherichia coli-colonized mouse model to evaluate microbiota-targeting strategies in Crohn's disease
Summary: Adherent-invasive Escherichia coli (AIEC)-colonized transgenic mouse ‘Vill-hCC6’ reproducing ileal colonization by AIEC observed in Crohn's disease is proposed as a new tool to evaluate AIEC-targeting strategies.