Subject collection: Rare diseases
- Noncanonical NF-κB signaling and the essential kinase NIK modulate crucial features associated with eosinophilic esophagitis pathogenesis
Summary: Analyses of Nik–/– mice and human gene expression data reveal a new pathway involved in the development of eosinophilic esophagitis in human patients and mouse models of the disease. This article has an associated First Person interview with the first author of the paper as part of the supplementary information.
- Early VGLUT1-specific parallel fiber synaptic deficits and dysregulated cerebellar circuit in the KIKO mouse model of Friedreich ataxia
Summary: Early VGLUT1-specific parallel fiber synaptic deficits and dysregulated cerebellar circuit might be potential mediators of cerebellar dysfunction and ataxia in the KIKO mouse model of Friedreich ataxia.
- The Parkinson's disease-associated protein DJ-1 plays a positive nonmitochondrial role in endocytosis in Dictyostelium cells
Editor's choice: The Dictyostelium homologue of the Parkinson's disease-associated protein DJ-1 is located in the cytosol, and its loss causes cytopathological defects in endocytic and autophagic cell death pathways, but stimulates respiration by functionally normal mitochondrial respiratory complexes.
- Early-onset torsion dystonia: a novel high-throughput yeast genetic screen for factors modifying protein levels of torsinAΔE
Summary: A novel high-throughput, automated, genome-wide yeast screen was used to identify genetic modifiers of the steady-state levels of proteins of the dystonia-associated torsinAΔE variant. This article has an associated First Person interview with the first author of the paper as part of the supplementary information.
- A small-molecule TrkB ligand restores hippocampal synaptic plasticity and object location memory in Rett syndrome mice
Editors' choice: The brain-penetrant BDNF loop domain mimetic LM22A-4 improves synaptic plasticity and spatial discrimination memory in Rett syndrome mice, making it a promising therapeutic candidate for the treatment of hippocampal dysfunction.
- The familial dysautonomia disease gene IKBKAP is required in the developing and adult mouse central nervous system
Summary: Ikbkap is essential for normal CNS development, neuronal survival and behavior, adding to our understanding of the role of the Elongator complex in the mammalian CNS.
- MAPK signaling pathways and HDAC3 activity are disrupted during differentiation of emerin-null myogenic progenitor cells
Editors' choice: HDAC3, p38 MAPK and ERK signaling are altered during differentiation of myogenic progenitors lacking emerin; pharmacological activation or inhibition of these signaling proteins rescues specific stages of myogenic differentiation.