AT A GLANCE
Summary: While unsurpassed as an experimental system for fundamental biology, Caenorhabditis elegans remains undervalued for its translational potential. Here, we highlight significant outcomes from, and resources available for, C. elegans-based research into neurodegenerative disorders.
Summary: Owing to its complex etiology and the toxicity of DUX4, modeling facioscapulohumeral muscular dystrophy (FSHD) is uniquely challenging. Here, we review the approaches that overcame these difficulties to develop highly relevant FSHD models.
Ammonia inhibits energy metabolism in astrocytes in a rapid and glutamate dehydrogenase 2-dependent manner
Summary: Here, we identified a mechanism relevant for hepatic encephalopathy by which glutamate dehydrogenase 2 impairs energy metabolism in mitochondria very rapidly via inhibiting the TCA cycle in astrocytes.
Cells expressing PAX8 are the main source of homeostatic regeneration of adult mouse endometrial epithelium and give rise to serous endometrial carcinoma
Summary: The study describes a single-cell transcriptomic atlas of the mouse uterus and shows that PAX8+ cells are responsible for long-term maintenance of endometrial epithelium and might represent the cell of origin of serous endometrial carcinoma.
Progenitor death drives retinal dysplasia and neuronal degeneration in a mouse model of ATRIP-Seckel syndrome
Summary: Retinopathies have been reported in primordial dwarfism syndromes. We show that the loss of Atrip, a gene mutated in Seckel syndrome, causes photoreceptor degeneration owing to p53-dependent apoptosis of retinal progenitors during development.
Summary: The Spag17pcdo mouse model closely recapitulates the human central pair primary ciliary dyskinesia condition, and the data here reinforce the power of the hypomorphic allele in representing human conditions.
Chronic administration of P2X7 receptor antagonist JNJ-47965567 delays disease onset and progression, and improves motor performance in ALS SOD1G93A female mice
Summary: This study implicates the P2X7 receptor (P2X7R) in amyotrophic lateral sclerosis progression in mice and shows that the effectiveness of treatment with P2X7R antagonists is sex dependent.
Summary: The development of a new inducible mouse model system of childhood HIV-associated nephropathy demonstrated that HIV-Tat plays a critical role in this disease, acting in synergy with other HIV-1 genes and heparin-binding cytokines.
Summary: Using computational analyses to harness artificial intelligence, we have tested a genetic model of Parkinson's disease and reveal a distinct movement phenotype in adult zebrafish lacking Dj-1.
CHIP mutations affect the heat shock response differently in human fibroblasts and iPSC-derived neurons
Summary: Cell viability, expression and immunocytochemical analyses reveal that mutations in STUB1 that cause SCAR16 impair the heat-shock response in patient-derived fibroblasts, but not in iPSC-derived cortical neurons.
The SDHB Arg230His mutation causing familial paraganglioma alters glycolysis in a new Caenorhabditis elegans model
Editor’s choice: Heritable pheochromocytoma/paraganglioma follows the Arg230His missense mutation in SDHB in mitochondrial complex II. By mutating this highly conserved ortholog in C. elegans, we generated a tractable phenotype.