More articles from Research Articles
- Heparan sulfate proteoglycans mediate prion-like α-synuclein toxicity in Parkinson’s in vivo models
This study offers new Caenorhabditis elegans models in which feeding with α-synuclein pre-formed fibrils results in prion-like aggregation of host α-synuclein and dopamine neuron degeneration, and these disease phenotypes are regulated by the heparan sulfate proteoglycan pathway.
- chromMAGMA: regulatory element-centric interrogation of risk variants
chromMAGMA, a pipeline that prioritizes candidate risk regulatory elements and target genes, reveals novel risk-associated genes when applied to epithelial ovarian cancer.
- Multi-omics profiling identifies a deregulated FUS-MAP1B axis in ALS/FTD–associated UBQLN2 mutants
Analysis of ALS patient-derived and engineered cells revealed that mutant UBQLN2 increases mRNA and protein of MAP1B which is mediated by dephosphorylation of FUS within its RNA-binding domain.
- Activity-based probe profiling of RNF12 E3 ubiquitin ligase function in Tonne-Kalscheuer syndrome
The authors use photocrosslinking activity-based probes to monitor RNF12/RLIM E3 ubiquitin ligase activity and report the impact of Tonne-Kalscheuer syndrome (TOKAS) patient variants on catalysis.
- Neuropeptide signalling shapes feeding and reproductive behaviours in male Caenorhabditis elegans
LURY-1 peptides are expressed in distinct cells in different sexes and have sex-specific effects on feeding and mating, providing further evidence for the role of neuromodulators in sexual dimorphism.
- Loss of Amphiregulin drives inflammation and endothelial apoptosis in pulmonary hypertension
The key pathogenic features of pulmonary hypertension are endothelial apoptosis and vascular inflammation, which are caused by the down-regulation of Amphiregulin, accompanied by HIF-1a and BAD-mediated up-regulation of the target genes such as RRP1B, PHB2, and NCOA6.
- IgM-enriched immunoglobulin improves colistin efficacy in a pneumonia model by Pseudomonas aeruginosa
Using polyclonal IgM-enriched immunoglobulin (IgM-IG) as adjuvant therapy to colistin appears useful in the treatment of pneumonia caused by multidrug-resistant strains of P. aeruginosa.
- TMBIM5 loss of function alters mitochondrial matrix ion homeostasis and causes a skeletal myopathy
TMBIM5 deficiency reduces mitochondrial K+/H+ exchange. Mutation of the channel pore in mice destabilizes the protein and results in increased embryonic lethality and a skeletal myopathy.
- The cation exchanger Letm1, circadian rhythms, and NAD(H) levels interconnect in diurnal zebrafish
The mitochondrial osmoregulator Letm1 exhibits a diel regulation, impacts on NAD+/H levels, circadian genes, and its study allows new perspectives on possible genetic compensation mechanisms.
- LncRNA RUS shapes the gene expression program towards neurogenesis
The chromatin-associated lncRNA RUS binds in the vicinity to neural differentiation-associated genes and regulates them in a context-dependent manner to enable proper neuron development.