Summary: With the development of a novel rabbit model of Duchenne muscular dystrophy (dmm032201), this Editorial reflects on the current animal models of this disease, their promise, prospects and pitfalls.
Summary: This Review discusses the similarities and differences between hearing in mammals and the fruit fly Drosophila, and describes how recent technological developments allow Drosophila to be used as a model to understand the function of human deafness genes.
Summary: Although collagen VI was so far known to be mostly involved in skeletal muscle homeostasis, this Review summarizes a number of recent studies that highlight its key role in the peripheral and central nervous systems, pointing at a link with human neurological disorders.
Summary: The authors characterize a rodent model of RNaseT2 deficiency, which offers insight into the susceptibility of the hippocampus to early inflammation caused by lysosome impairment due to loss of RNaseT2 function.
Adding a temporal dimension to the study of Friedreich's ataxia: the effect of frataxin overexpression in a human cell model
Summary: We have probed the effect of overexpression of the frataxin gene in an inducible cellular model. Our data indicate that the levels of frataxin must be tightly regulated, because any imbalance leads to oxidative stress and toxicity.
Summary: Cardiac mesenchymal stem cells respond early to myocardial infarction. Their regenerative capacity is directly upregulated by optimized stimulation of the heart through epicardial erythropoietin delivery.
Summary:Caenorhabditiselegans is a valuable model to identify genetic factors influencing the animal response to the widely used chemotherapeutic agent cisplatin.
Summary: The present study suggests that Cacna1c plays a prominent role in regulating socio-affective communication in rats with relevance for neuropsychiatric disorders.
Summary: Cartilage defects initiate osteoarthritis. This is the first systematic review of translational evidence of cartilage defects in animal models treated by drilling, enhancing translation from basic science to clinical application.
Summary: Using a rabbit model of calcific aortic stenosis, we have defined a molecular panel of three proteins related to osteoblastic differentiation. Additionally, this panel has been confirmed in human samples.
Epigenetic regulators Rbbp4 and Hdac1 are overexpressed in a zebrafish model of RB1 embryonal brain tumor, and are required for neural progenitor survival and proliferation
Summary: This study shows that chromatin remodelers that are overexpressed in a zebrafish model of RB1 mutant brain cancer are required for neural progenitor proliferation and survival, providing insight into potential mechanisms that drive tumor growth.
Increased FGF8 signaling promotes chondrogenic rather than osteogenic development in the embryonic skull
Summary: Cranial ossification responds to Fgf8 overexpression in a dose-dependent manner with moderate levels leading to craniosynostosis and higher levels shifting cranial vault ossification to abnormal cartilage formation.
Summary: Using a Drosophila model of adrenoleukodystrophy, the authors provide evidence against the current view that an accumulation of lipid metabolic pathway precursors is causative of this neurometabolic disease. Rather, a lack of pathway product is the causative factor and addition of medium-chain fatty acids to the diet prevented the onset of neurodegeneration.
Summary: β-cell glucokinase expression is decreased in diet-induced diabetes. β-cell-targeted overexpression of glucokinase improved the diabetic phenotype, suggesting an etiological role of glucokinase downregulation in diet-induced diabetes.
Lifespan analysis of brain development, gene expression and behavioral phenotypes in the Ts1Cje, Ts65Dn and Dp(16)1/Yey mouse models of Down syndrome
Editor's choice: Comparison of corticogenesis, gene expression and behavior in three mouse models of Down syndrome revealed major differences between the models as well as significant limitations in each strain for understanding neurobiological changes in the human phenotype.
Nmnat mitigates sensory dysfunction in a Drosophila model of paclitaxel-induced peripheral neuropathy
Summary: Neurotoxic side effects of chemotherapy are poorly understood. Here, the authors optimize a Drosophila model of paclitaxel-induced sensory dysfunction, which is then used to explore the neuroprotective capacity of Nmnat.
Summary: The DMD KO rabbit engineered by CRISPR genome editing faithfully recapitulates the DMD pathologies, and could be a valuable tool for basic and translational studies to combat this disease.