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See detailBiallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish
Siekierska, Aleksandra; Stamberger, Hannah; Deconinck, Tine et al

in Nature Communications (2019), 10(1), 708

Aminoacyl tRNA synthetases (ARSs) link specific amino acids with their cognate transfer RNAs in a critical early step of protein translation. Mutations in ARSs have emerged as a cause of recessive, often ... [more ▼]

Aminoacyl tRNA synthetases (ARSs) link specific amino acids with their cognate transfer RNAs in a critical early step of protein translation. Mutations in ARSs have emerged as a cause of recessive, often complex neurological disease traits. Here we report an allelic series consisting of seven novel and two previously reported biallelic variants in valyl-tRNA synthetase (VARS) in ten patients with a developmental encephalopathy with microcephaly, often associated with early-onset epilepsy. In silico, in vitro, and yeast complementation assays demonstrate that the underlying pathomechanism of these mutations is most likely a loss of protein function. Zebrafish modeling accurately recapitulated some of the key neurological disease traits. These results provide both genetic and biological insights into neurodevelopmental disease and pave the way for further in-depth research on ARS related recessive disorders and precision therapies. [less ▲]

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See detailStem cell-associated heterogeneity in Glioblastoma results from intrinsic tumor plasticity shaped by the microenvironment
Dirkse, Anne; Golebiewska, Anna; Buder, Thomas et al

in Nature communications (2019), 10(1), 1787

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See detailGenome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies
The International League Against Epilepsy Consortium on Complex Epilepsies; Krause, Roland UL

in Nature Communications (2018)

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See detailTowards exact molecular dynamics simulations with machine-learned force fields
Chmiela, Stefan; Sauceda, Huziel E.; Müller, Klaus-Robert et al

in Nature Communications (2018), 9

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See detailOptical control of polarization in ferroelectric heterostructures
Tao, Li; Lipatov, Alexej; Lu, Haidong et al

in Nature Communications (2018), 9

In the ferroelectric devices, polarization control is usually accomplished by application of an electric field. In this paper, we demonstrate optically induced polarization switching in BaTiO3-based ... [more ▼]

In the ferroelectric devices, polarization control is usually accomplished by application of an electric field. In this paper, we demonstrate optically induced polarization switching in BaTiO3-based ferroelectric heterostructures utilizing a two-dimensional narrow-gap semiconductor MoS2 as a top electrode. This effect is attributed to the redistribution of the photo-generated carriers and screening charges at the MoS2/BaTiO3 interface. Specifically, a two-step process, which involves formation of intra-layer excitons during light absorption followed by their decay into inter-layer excitons, results in the positive charge accumulation at the interface forcing the polarization reversal from the upward to the downward direction. Theoretical modeling of the MoS2 optical absorption spectra with and without the applied electric field provides quantitative support for the proposed mechanism. It is suggested that the discovered effect is of general nature and should be observable in any heterostructure comprising a ferroelectric and a narrow gap semiconductor. [less ▲]

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See detailTailoring van der Waals dispersion interactions with external electric charges
Kleshchonok, Andrii; Tkatchenko, Alexandre UL

in Nature Communications (2018), 9

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See detailSodium enhances indium-gallium interdiffusion in copper indium gallium diselenide photovoltaic absorbers
Colombara, Diego UL; Werner, Florian UL; Schwarz, Torsten et al

in Nature Communications (2018)

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See detailCompetition between crystal and fibril formation in molecular mutations of amyloidogenic peptides
Reynolds, Nicholas; Adamcik, Jozef; Berryman, Josh UL et al

in Nature Communications (2017), 8

Amyloidogenic model peptides are invaluable for investigating assembly mechanisms in disease related amyloids and in protein folding. During aggregation, such peptides can undergo bifurcation leading to ... [more ▼]

Amyloidogenic model peptides are invaluable for investigating assembly mechanisms in disease related amyloids and in protein folding. During aggregation, such peptides can undergo bifurcation leading to fibrils or crystals, however the mechanisms of fibril-to-crystal conversion are unclear. We navigate herein the energy landscape of amyloidogenic peptides by studying a homologous series of hexapeptides found in animal, human and disease related proteins. We observe fibril-to-crystal conversion occurring within single aggregates via untwisting of twisted ribbon fibrils possessing saddle-like curvature and cross-sectional aspect ratios approaching unity. Changing sequence, pH or concentration shifts the growth towards larger aspect ratio species assembling into stable helical ribbons possessing mean-curvature. By comparing atomistic calculations of desolvation energies for association of peptides we parameterise a kinetic model, providing a physical explanation of fibril-to-crystal interconversion. These results shed light on the self-assembly of amyloidogenic peptides, suggesting amyloid crystals, not fibrils, represent the ground state of the protein folding energy landscape. [less ▲]

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See detailTRPV1 regulates excitatory innervation of OLM neurons in the hippocampus.
I. Hurtado-Zavala, Joaquin; Ramachandran, Binu; Ahmed, Saheeb et al

in Nature Communications (2017)

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See detailNanoscale $\uppi$\textendash$\uppi$ stacked molecules are bound by collective charge fluctuations
Hermann, Jan; Alfè, Dario; Tkatchenko, Alexandre UL

in Nature Communications (2017), 8

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See detailQuantum-chemical insights from deep tensor neural networks
Schütt, Kristof T.; Arbabzadah, Farhad; Chmiela, Stefan et al

in Nature Communications (2017), 8

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See detailGenome-wide analysis of chromosomal import patterns after natural 2 transformation of Helicobacter pylori
Sebastian, Bubendorfer; Juliane, Krebes; Ines, Yang et al

in Nature Communications (2016), 7

Recombination plays a dominant role in the evolution of the bacterial pathogen Helicobacter pylori, but its dynamics remain incompletely understood. Here we use an in vitro transformation system combined ... [more ▼]

Recombination plays a dominant role in the evolution of the bacterial pathogen Helicobacter pylori, but its dynamics remain incompletely understood. Here we use an in vitro transformation system combined with genome sequencing to study chromosomal integration patterns after natural transformation. A single transformation cycle results in up to 21 imports, and repeated transformations generate a maximum of 92 imports (8% sequence replacement). Import lengths show a bimodal distribution with averages of 28 and 1,645bp. Reanalysis of paired H. pylori genomes from chronically infected people demonstrates the same bimodal import pattern in vivo. Restriction endonucleases (REases) of the recipient bacteria fail to inhibit integration of homeologous DNA, independently of methylation. In contrast, REases limit the import of heterologous DNA. We conclude that restriction-modification systems inhibit the genomic integration of novel sequences, while they pose no barrier to homeologous recombination, which reconciles the observed stability of the H. pylori gene content and its highly recombinational population structure. [less ▲]

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See detailCorrespondence: On the nature of strong piezoelectricity in graphene on SiO2
Stampfer, Christoph; Reichardt, Sven UL

in Nature Communications (2016), 7

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See detailThe Plasma Membrane Calcium ATPase 4 Signaling in Cardiac Fibroblasts Mediates Cardiomyocyte Hypertrophy
Neyses, Ludwig UL; Mohamed, TMA; Abou-Leisa, R et al

in Nature Communications (2016)

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See detailA microfluidics-based in vitro model of the gastrointestinal human-microbe interface.
Shah, Pranjul UL; Fritz, Joëlle UL; Glaab, Enrico UL et al

in Nature communications (2016), 7

Changes in the human gastrointestinal microbiome are associated with several diseases. To infer causality, experiments in representative models are essential, but widely used animal models exhibit ... [more ▼]

Changes in the human gastrointestinal microbiome are associated with several diseases. To infer causality, experiments in representative models are essential, but widely used animal models exhibit limitations. Here we present a modular, microfluidics-based model (HuMiX, human-microbial crosstalk), which allows co-culture of human and microbial cells under conditions representative of the gastrointestinal human-microbe interface. We demonstrate the ability of HuMiX to recapitulate in vivo transcriptional, metabolic and immunological responses in human intestinal epithelial cells following their co-culture with the commensal Lactobacillus rhamnosus GG (LGG) grown under anaerobic conditions. In addition, we show that the co-culture of human epithelial cells with the obligate anaerobe Bacteroides caccae and LGG results in a transcriptional response, which is distinct from that of a co-culture solely comprising LGG. HuMiX facilitates investigations of host-microbe molecular interactions and provides insights into a range of fundamental research questions linking the gastrointestinal microbiome to human health and disease. [less ▲]

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See detailUltrafast acousto-optic mode conversion in optically birefringent ferroelectrics
Lejman, Mariusz; Vaudel, Gwenaelle; Infante, Ingrid C. et al

in NATURE COMMUNICATIONS (2016), 7

The ability to generate efficient giga-terahertz coherent acoustic phonons with femtosecond laser makes acousto-optics a promising candidate for ultrafast light processing, which faces electronic device ... [more ▼]

The ability to generate efficient giga-terahertz coherent acoustic phonons with femtosecond laser makes acousto-optics a promising candidate for ultrafast light processing, which faces electronic device limits intrinsic to complementary metal oxide semiconductor technology. Modern acousto-optic devices, including optical mode conversion process between ordinary and extraordinary light waves (and vice versa), remain limited to the megahertz range. Here, using coherent acoustic waves generated at tens of gigahertz frequency by a femtosecond laser pulse we reveal the mode conversion process and show its efficiency in ferroelectric materials such as BiFeO3 and LiNbO3. Further to the experimental evidence, we provide a complete theoretical support to this all-optical ultrafast mechanism mediated by acousto-optic interaction. By allowing the manipulation of light polarization with gigahertz coherent acoustic phonons, our results provide a novel route for the development of next-generation photonic-based devices and highlight new capabilities in using ferroelectrics in modern photonics. [less ▲]

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See detailA novel Fanconi anemia subtype associated with a dominant-negative mutation in RAD51
Ameziane, Najim; May, Patrick UL; Van de Vrugt, Henri J. et al

in Nature Communications (2015), 6(8829),

Fanconi anemia (FA) is a hereditary disease featuring hypersensitivity to DNA cross-linker-induced chromosomal instability in association with developmental abnormalities, bone marrow failure and a strong ... [more ▼]

Fanconi anemia (FA) is a hereditary disease featuring hypersensitivity to DNA cross-linker-induced chromosomal instability in association with developmental abnormalities, bone marrow failure and a strong predisposition to cancer. 17 FA disease genes have been reported, all of which act in a recessive mode of inheritance. Here we report on a de novo g.41022153G>A; p.Ala293Thr (NM_002875) missense mutation in one allele of the homologous recombination DNA repair gene RAD51 in an FA-like patient. This heterozygous mutation causes a novel FA subtype, “FA-R”, which appears to be the first subtype of FA caused by a dominant-negative mutation. The patient, who features microcephaly and mental retardation, has reached adulthood without the typical bone marrow failure and pediatric cancers. Together with the recent reports on RAD51-associated congenital mirror movement disorders our results point to an important role for RAD51-mediated homologous recombination in neurodevelopment, in addition to DNA repair and cancer susceptibility. [less ▲]

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