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The 16p11.2 duplication confers risk for autism and schizophrenia, but the disease mechanisms are unknown. Here, the authors use proteomics to show dysregulation of synaptic and epilepsy-associated protein networks in the cortex of model mice, and demonstrate that correcting Prrt2 gene dosage rescues circuit hypersynchrony and behavioural phenotypes.
IsiAs are unique light-harvesting complexes in cyanobacteria. Here, authors solved the structure of a PSI monomer associated with six IsiAs from Anabaena by cryo-EM, which provide insights into molecular diversity and functions of different IsiAs.
The generation of CRISPR-mediated transcriptional activation (CRISPRa)-competent cell lines pose significant technical challenges. Here the authors report a platform for production of CRISPRa-ready cell populations which they combine with optimised expressed and synthetic gRNA scaffolds to enhance functionality.
Thermorubin is a ribosome-targeting antibiotic. Here, using fast-kinetics and cryoEM, the authors reveal that thermorubin primarily blocks ribosome-recycling by tethering the ribosomal subunits besides impeding translation elongation and termination steps.
The progress in generating high static pressures in diamond anvil cells opens opportunities for studying novel materials with unusual properties. Here, the authors report a universal high-pressure diamond edge Raman scale up to 500 gigapascals, which does not require an additional pressure sensor.
Systematically predicting phenotypes or disease risks based on the information of an individual’s genetic variation remains an unsolved challenge. Here, the authors develop a knowledge-based approach for performing and evaluating hypothesis-free phenotype prediction directly from a human genome.
Few cancer drivers in non-coding regions have been identified so far. Here, the authors develop a transcription factor-aware burden test to predict non-coding variants and analyze the impact on transcription factor binding - especially ETS factors - as well as their impact on transcriptional activity.
Dumesnil et al. report that cholesterol esters (CE), which only melt above body temperature, form supercooled liquid crystalline lipid droplets (LD). Triacylglycerols (TG) solubilize CE to help CE LD nucleation. Through clustering TGs in the ER membrane, seipin controls CE LD nucleation sites.
Fusion gates are common operations in photonic quantum information platforms, where they are employed to create entanglement. Here, the authors propose a quantum computation scheme where the same measurements used to generate entanglement can also be used to achieve fault-tolerance leading to an increased tolerance to errors.
Neutral helium microscopy is a completely nondestructive, surface-sensitive imaging technique. Here, the authors demonstrate sub-resolution contrast using an advanced facet scattering model to reconstruct the topography of technological thin films in the ångström range.
Photopharmacology manipulates the biological activity of small molecules by light. Using an X-ray laser, the authors follow the release of the drug azo-combretastatin A4 from tubulin and the concomitant structural changes over nine orders of magnitude in time.
Bubbles at an air-liquid interface will rupture when their spherical cap becomes sufficiently drained. It is now shown that the film thickness of large bare viscous bubbles is highly non-uniformly distributed, and that a bubble’s thickness profile relates to its drainage velocity.
CD59 protects human cells from damage by the MAC immune pore. The authors show how CD59 inhibits MAC, by deflecting pore-forming β-hairpins of complement proteins. As well as how the membrane environment influences the role of CD59 in complement regulation and in host-pathogen interactions.
The drivers of multidecadal changes in the North Tropical Atlantic−Pacific connection are still not fully understood. Here, the authors show that they are mainly controlled by multidecadal variability associated with the North Atlantic Oscillation.
Integrating genetic information with circulating proteomics can help understand mechanisms of disease. Here, the authors conduct genome-wide association analyses of the serum proteome in 2,958 Han Chinese individuals, uncovering proteins which may contribute to ancestry differences in cardiometabolic disease susceptibility.
The contribution of animal ecosystem engineers to coastal geomorphological processes is often neglected. Here, the authors combine observational, experimental and modelling work to demonstrate that ecosystem engineering by mussels is a much stronger driver of salt marsh accretion rates than expected.