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Heparan sulfate proteoglycans mediate prion-like α-synuclein toxicity in Parkinson’s in vivo modelsThis 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 variantschromMAGMA, 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 mutantsAnalysis 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 syndromeThe 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 elegansLURY-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 hypertensionThe 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 aeruginosaUsing 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 myopathyTMBIM5 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 zebrafishThe 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 neurogenesisThe 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.