Issues

Summary: Unlike mammals, teleost fish are capable of efficient, spontaneous recovery after a paralyzing spinal cord injury. Here, we highlight the major events through which laboratory model zebrafish regenerate spinal cord tissue.

Summary: Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS) can be caused by various (epi)genetic lesions leading to the dysregulation of genomic imprinting. This Review focuses on the mouse models used to understand how such perturbations contribute to the human BWS/SRS phenotypes.

Summary: Nrf2 activation ameliorates the epidermal barrier defect and cutaneous inflammation in a mouse model of Netherton syndrome, suggesting the utility of NRF2-activating compounds in patients with this genetic disease.

Summary: This study reports a novel role of PRSS56 in the proper developmental positioning of ocular drainage tissues, establishing it as an important genetic factor involved in iridocorneal angle configuration and intraocular pressure homeostasis.

Summary: Activation of pathogenic Th17 lymphocytes induces hypertension after high-fructose intake in salt-sensitive rats. Immune activation plays an important role in the development of hypertension, whereas immune tolerance is protective against hypertension.

Editor's choice: The functions of two endocytic adaptor proteins, PHETA1/2, are determined using zebrafish mutants and a potentially disease-causing variant of human PHETA1. Findings suggest essential roles in craniofacial and renal development.

Summary: Research on the AR100 mouse model of spinal and bulbarmuscular atrophy shows that disease manifests first in skeletal muscle, before motor neuron degeneration, which only occurs in the late stage of disease.

Summary: Using animal models of spinal muscular atrophy, we describe a novel disease mechanism caused by temperature-sensitive protein unfolding/instability of the Tudor domain of SMN.

Summary: This paper describes the mechanism by which diverse dystonin gene mutations result in phenotypic heterogeneity in neural and cutaneous tissues of Dystonia musculorum mice.

Summary: Our study pinpoints a quantitative trait locus for red blood cell distribution width (RDW) and provides a novel genetic rat model mimicking the clinical association of increased RDW with poor cardio-renal outcome.

Summary: We hypothesize that the transcription factor Nurr1 is activated in the early phase of the neurodegenerative disease amylotrophic lateral sclerosis (ALS), probably as a neuroprotective endogenous mechanism. Nurr1 might represent a promising target for ALS therapy.