Systemic restoration of UBA1 ameliorates disease in spinal muscular atrophy

Acknowledgments Blood biochemistry analysis and serum analysis were performed by the Easter Bush Pathology Department, University of Edinburgh. Animal husbandry was performed by Centre for Integrative Physiology bio-research restructure technical staff, University of Edinburgh. Assistance with intravenous injections was provided by Ian Coldicott (University of Sheffield) and Hannah Shorrock (University of Edinburgh). Human blood cDNA was a gift to GH from Kathy Evans, University of Edinburgh. Imaging was performed at the IMPACT imaging facility, University of Edinburgh, with technical assistance from Anisha Kubasik-Thayil. The authors would also like to thank Lyndsay Murray for technical discussions relating to qRT-PCR analysis. This work was supported by funding from the SMA Trust and the Anatomical Society (via grants to THG); the Euan MacDonald Centre for Motor Neurone Disease Research (via grants to THG and SHP); the Wellcome Trust (via grants to EJNG and THG); Muscular Dystrophy UK (via grants to THG and CGB); a Elphinstone Scholarship from the University of Aberdeen (to SHP); and The French Muscular Dystrophy Association (via grants to CM and JC).Peer reviewedPublisher PD

Seismic risk in the city of Al Hoceima (north of Morocco) using the vulnerability index method, applied in Risk-UE project

The final publication is available at Springer via http://dx.doi.org/10.1007/s11069-016-2566-8Al Hoceima is one of the most seismic active regions in north of Morocco. It is demonstrated by the large seismic episodes reported in seismic catalogs and research studies. However, seismic risk is relatively high due to vulnerable buildings that are either old or don’t respect seismic standards. Our aim is to present a study about seismic risk and seismic scenarios for the city of Al Hoceima. The seismic vulnerability of the existing residential buildings was evaluated using the vulnerability index method (Risk-UE). It was chosen to be adapted and applied to the Moroccan constructions for its practicality and simple methodology. A visual inspection of 1102 buildings was carried out to assess the vulnerability factors. As for seismic hazard, it was evaluated in terms of macroseismic intensity for two scenarios (a deterministic and probabilistic scenario). The maps of seismic risk are represented by direct damage on buildings, damage to population and economic cost. According to the results, the main vulnerability index of the city is equal to 0.49 and the seismic risk is estimated as Slight (main damage grade equal to 0.9 for the deterministic scenario and 0.7 for the probabilistic scenario). However, Moderate to heavy damage is expected in areas located in the newer extensions, in both the east and west of the city. Important economic losses and damage to the population are expected in these areas as well. The maps elaborated can be a potential guide to the decision making in the field of seismic risk prevention and mitigation strategies in Al Hoceima.Peer ReviewedPostprint (author's final draft

Electrocaloric effect and high energy storage efficiency in lead-free Ba0.95_{0.95}Ca0.05_{0.05}Ti0.89_{0.89}Sn0.11_{0.11}O3_3 ceramic elaborated by sol-gel method

Structural, dielectric, ferroelectric, energy storage properties, and electrocaloric effect were studied in lead-free ceramic Ba$_{0.95}$Ca$_{0.05}$Ti$_{0.89}$Sn$_{0.11}$O$_3$ (BCTSn) elaborated by sol-gel method. Phase purity structure was confirmed from X-ray data using Rietveld refinement analysis which revealed the coexistence of tetragonal (P4mm) and orthorhombic (Amm2) symmetries at room temperature. Phase transitions were detected by dielectric and differential scanning calorimetry results. Energy storage properties were determined from P-E hysteresis, and the electrocaloric properties were calculated indirectly via the Maxwell approach. The large value of electrocaloric temperature change of $\Delta$T=0.807 K obtained at a relatively small field of 30 kV cm$^{-1}$ and high energy storage efficiency can make BCTSn ceramic a promising candidate for environmentally friendly refrigeration and energy storage applications

An all-solid-state laser source at 671 nm for cold atom experiments with lithium

We present an all solid-state narrow line-width laser source emitting $670\,\mathrm{mW}$ output power at $671\,\mathrm{nm}$ delivered in a diffraction-limited beam. The \linebreak source is based on a fre-quency-doubled diode-end-linebreak pumped ring laser operating on the ${^4F}_{3/2} \rightarrow {^4I}_{13/2}$ transition in Nd:YVO$_4$. By using periodically-poled po-tassium titanyl phosphate (ppKTP) in an external build-up cavity, doubling efficiencies of up to 86% are obtained. Tunability of the source over $100\,\rm GHz$ is accomplished. We demonstrate the suitability of this robust frequency-stabilized light source for laser cooling of lithium atoms. Finally a simplified design based on intra-cavity doubling is described and first results are presented

Coordinatively Saturated Tris(oxazolinyl)borato Zinc Hydride-Catalyzed Cross Dehydrocoupling of Silanes and Alcohols

The four-coordinate zinc compound ToMZnH (1, ToM = tris(4,4-dimethyl-2-oxazolinyl)phenylborate) catalyzes selective alcoholysis of substituted hydrosilanes. The catalytic reaction of PhMeSiH2 and aliphatic alcohols favors the monodehydrocoupled product PhMeHSi–OR. With the aryl alcohol 3,5-C6H3Me2OH, the selectivity for mono(aryloxy)hydrosilane PhMeHSiOC6H3Me2 and bis(aryloxy)silane PhMeSi(OC6H3Me2)2 is controlled by relative reagent concentrations. Reactions of secondary organosilanes and diols provide cyclic bis(oxo)silacycloalkanes in high yield. The empirical rate law for the ToMZnH-catalyzed reaction of 3,5-dimethylphenol and PhMeSiH2 is −d[PhMeSiH2]/dt = k′obs[ToMZnH]1[3,5-C6H3Me2OH]0[PhMeSiH2]1 (determined at 96 °C) which indicates that Si–O bond formation is turnover-limiting in the presence of excess phenol

SEIS: Insight's Seismic Experiment for Internal Structure of Mars.

By the end of 2018, 42 years after the landing of the two Viking seismometers on Mars, InSight will deploy onto Mars' surface the SEIS (Seismic Experiment for Internal Structure) instrument; a six-axes seismometer equipped with both a long-period three-axes Very Broad Band (VBB) instrument and a three-axes short-period (SP) instrument. These six sensors will cover a broad range of the seismic bandwidth, from 0.01 Hz to 50 Hz, with possible extension to longer periods. Data will be transmitted in the form of three continuous VBB components at 2 sample per second (sps), an estimation of the short period energy content from the SP at 1 sps and a continuous compound VBB/SP vertical axis at 10 sps. The continuous streams will be augmented by requested event data with sample rates from 20 to 100 sps. SEIS will improve upon the existing resolution of Viking's Mars seismic monitoring by a factor of ∼ 2500 at 1 Hz and ∼ 200 000 at 0.1 Hz. An additional major improvement is that, contrary to Viking, the seismometers will be deployed via a robotic arm directly onto Mars' surface and will be protected against temperature and wind by highly efficient thermal and wind shielding. Based on existing knowledge of Mars, it is reasonable to infer a moment magnitude detection threshold of M w ∼ 3 at 40 ∘ epicentral distance and a potential to detect several tens of quakes and about five impacts per year. In this paper, we first describe the science goals of the experiment and the rationale used to define its requirements. We then provide a detailed description of the hardware, from the sensors to the deployment system and associated performance, including transfer functions of the seismic sensors and temperature sensors. We conclude by describing the experiment ground segment, including data processing services, outreach and education networks and provide a description of the format to be used for future data distribution.Electronic supplementary materialThe online version of this article (10.1007/s11214-018-0574-6) contains supplementary material, which is available to authorized users

Understanding The Correlation Of Libs And Acoustic Measurements Of Rocks And Soils Found In The Traverse Of The Perseverance Rover Across The Jezero Crater, Mars

The SuperCam instrument of the NASA MARS 2020 Perseverance rover combines a suite of atomic and molecular spectroscopies intended for an extensive description of rocks, soils and minerals in the surroundings of the landing site of the mission – the Jezero crater. The microphone installed on the SuperCam instrument allows the acquisition of acoustic signals resulting from the expansion of laser-induced plasmas towards the atmosphere. Apart from being affected by the propagation characteristics of the Mars atmosphere, the acoustic signal has an additional component related to the properties of the target including surface morphology, hardness, deformation parameters, and elasticity, among others. This information is currently being investigated as a complementary resource for characterization of the ablated material and may well supplement the LIBS data gathered from coincident laser shots. This talk will present SuperCam acoustic data of rocks and minerals found in the traverse of the Perseverance rover and will discuss its correlation with LIBS spectra.Universidad de Málaga. Campus de Excelencia Internacional Andalucía Tec

LIBS and Acoustic Measurements of Rocks and Regolith Found in the Traverse of the Perseverance Rover Across the Jezero Crater, Mars

The SuperCam instrument of the NASA MARS 2020 Perseverance rover combines a suite of atomic and molecular spectroscopies intended for an extensive description of rocks, soils and minerals in the surroundings of the landing site of the mission – the Jezero crater. The microphone installed on the SuperCam instrument allows the acquisition of acoustic signals resulting from the expansion of laser-induced plasmas towards the atmosphere. Apart from being affected by the propagation characteristics of the Mars atmosphere, the acoustic signal has an additional component related to the properties of the target including surface morphology, hardness, deformation parameters, and elasticity, among others. This information is currently being investigated as a complementary resource for characterization of the ablated material and may well supplement the LIBS data gathered from coincident laser shots. This talk will present SuperCam acoustic data of rocks and minerals found in the traverse of the Perseverance rover and will discuss its correlation with LIBS spectra.Universidad de Málaga. Campus de Excelencia Internacional Andalucía Tec

Joint Europa Mission (JEM): a multi-scale study of Europa to characterize its habitability and search for extant life

Europa is the closest and probably the most promising target to search for extant life in the Solar System, based on complementary evidence that it may fulfil the key criteria for habitability: the Galileo discovery of a sub-surface ocean; the many indications that the ice shell is active and may be partly permeable to transfer of chemical species, biomolecules and elementary forms of life; the identification of candidate thermal and chemical energy sources necessary to drive a metabolic activity near the ocean floor. In this article we are proposing that ESA collaborates with NASA to design and fly jointly an ambitious and exciting planetary mission, which we call the Joint Europa Mission (JEM), to reach two objectives: perform a full characterization of Europa's habitability with the capabilities of a Europa orbiter, and search for bio-signatures in the environment of Europa (surface, subsurface and exosphere) by the combination of an orbiter and a lander. JEM can build on the advanced understanding of this system which the missions preceding JEM will provide: Juno, JUICE and Europa Clipper, and on the Europa lander concept currently designed by NASA (Maize, report to OPAG, 2019). We propose the following overarching goals for our Joint Europa Mission (JEM): Understand Europa as a complex system responding to Jupiter system forcing, characterize the habitability of its potential biosphere, and search for life at its surface and in its sub-surface and exosphere. We address these goals by a combination of five Priority Scientific Objectives, each with focused measurement objectives providing detailed constraints on the science payloads and on the platforms used by the mission. The JEM observation strategy will combine three types of scientific measurement sequences: measurements on a high-latitude, low-altitude Europan orbit; in-situ measurements to be performed at the surface, using a soft lander; and measurements during the final descent to Europa's surface. The implementation of these three observation sequences will rest on the combination of two science platforms: a soft lander to perform all scientific measurements at the surface and sub-surface at a selected landing site, and an orbiter to perform the orbital survey and descent sequences. We describe a science payload for the lander and orbiter that will meet our science objectives. We propose an innovative distribution of roles for NASA and ESA; while NASA would provide an SLS launcher, the lander stack and most of the mission operations, ESA would provide the carrier-orbiter-relay platform and a stand-alone astrobiology module for the characterization of life at Europa's surface: the Astrobiology Wet Laboratory (AWL). Following this approach, JEM will be a major exciting joint venture to the outer Solar System of NASA and ESA, working together toward one of the most exciting scientific endeavours of the 21st century: to search for life beyond our own planet