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.
Modeling human epigenetic disorders in mice: Beckwith-Wiedemann syndrome and Silver-Russell syndrome
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.
Loss of PRSS56 function leads to ocular angle defects and increased susceptibility to high intraocular pressure
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.
Activated pathogenic Th17 lymphocytes induce hypertension following high-fructose intake in Dahl salt-sensitive but not Dahl salt-resistant rats
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.
Deterioration of muscle force and contractile characteristics are early pathological events in spinal and bulbar muscular atrophy mice
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.
Temperature-sensitive spinal muscular atrophy-causing point mutations lead to SMN instability, locomotor defects and premature lethality in Drosophila
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.
Diverse dystonin gene mutations cause distinct patterns of Dst isoform deficiency and phenotypic heterogeneity in Dystonia musculorum mice
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.
Genetic predisposition for increased red blood cell distribution width is an early risk factor for cardiovascular and renal comorbidities
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.
The transcription factor Nurr1 is upregulated in amyotrophic lateral sclerosis patients and SOD1-G93A mice
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.