Issues

Summary: Zebrafish and other small fish have become powerful disease models. Here, we summarize the evidence for the utility of small teleost models for genetic research in sarcopenia – the age-related loss of muscle mass and function.

Summary: In this Review, we outline the process of elongation and discuss the relative contributions of transfer RNAs, elongation factors and their modifiers to this process, and how their dysregulation contributes towards disease.

Summary: Targeting LDHA results in tumor regression in experimental models. Likewise, co-administration of a known small molecule LDHA inhibitor and an anti-tuberculosis drug has improved the tuberculosis therapeutic outcomes in murine models.

Editor's choice: We found non-cell-autonomous apoptosis and fewer Arx⁺ interneurons in neonatal neocortex of an X-linked infantile spasms syndrome Arx expansion model. Early estradiol therapy rescued Arx⁺ interneuron density, but did not prevent apoptosis.

Summary: This novel mouse model of nonlethal pulmonary Klebsiella pneumoniae infection allows for the exploration of mechanisms required to mount a protective memory response to K. pneumoniae in the lung.

Summary: Epithelial transcription factor GRHL2 is required for face closure while mesenchymal transcription factor ZEB1 is required for palate closure. Surprisingly, animals lacking both factors close their face and secondary palate.

Summary: This study identifies genomic regions in a new Npc1 mutant mouse model containing potential modifier variants associated with changes in phenotypic severity and lifespan.

Summary: Here, we generated a GNRH1-reporter cell line in hPSCs and investigated transcriptomes of GNRH1-expressing neurons and their progenitors, potentially leading to validation of new genes related to GnRH neuron function.

Summary: Branchio-otic/branchio-oto-renal syndromes result in craniofacial defects including deafness. Four of the known human SIX1 mutations cause differential changes in craniofacial gene expression and otic morphology when expressed in Xenopus embryos.