Issues

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.

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.

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.

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 Spag17^pcdo 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.

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.

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.

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.