Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases

We report an early onset spastic ataxia-neuropathy syndrome in two brothers of a consanguineous family characterized clinically by lower extremity spasticity, peripheral neuropathy, ptosis, oculomotor apraxia, dystonia, cerebellar atrophy, and progressive myoclonic epilepsy. Whole-exome sequencing identified a homozygous missense mutation (c.1847G>A; p.Y616C) in AFG3L2, encoding a subunit of an m-AAA protease. m-AAA proteases reside in the mitochondrial inner membrane and are responsible for removal of damaged or misfolded proteins and proteolytic activation of essential mitochondrial proteins. AFG3L2 forms either a homo-oligomeric isoenzyme or a hetero-oligomeric complex with paraplegin, a homologous protein mutated in hereditary spastic paraplegia type 7 (SPG7). Heterozygous loss-of-function mutations in AFG3L2 cause autosomal-dominant spinocerebellar ataxia type 28 (SCA28), a disorder whose phenotype is strikingly different from that of our patients. As defined in yeast complementation assays, the AFG3L2Y616C gene product is a hypomorphic variant that exhibited oligomerization defects in yeast as well as in patient fibroblasts. Specifically, the formation of AFG3L2Y616C complexes was impaired, both with itself and to a greater extent with paraplegin. This produced an early-onset clinical syndrome that combines the severe phenotypes of SPG7 and SCA28, in additional to other “mitochondrial” features such as oculomotor apraxia, extrapyramidal dysfunction, and myoclonic epilepsy. These findings expand the phenotype associated with AFG3L2 mutations and suggest that AFG3L2-related disease should be considered in the differential diagnosis of spastic ataxias

Roadmap on Photovoltaic Absorber Materials for Sustainable Energy Conversion

Photovoltaics (PVs) are a critical technology for curbing growing levels of anthropogenic greenhouse gas emissions, and meeting increases in future demand for low-carbon electricity. In order to fulfil ambitions for net-zero carbon dioxide equivalent (CO2eq) emissions worldwide, the global cumulative capacity of solar PVs must increase by an order of magnitude from 0.9 TWp in 2021 to 8.5 TWp by 2050 according to the International Renewable Energy Agency, which is considered to be a highly conservative estimate. In 2020, the Henry Royce Institute brought together the UK PV community to discuss the critical technological and infrastructure challenges that need to be overcome to address the vast challenges in accelerating PV deployment. Herein, we examine the key developments in the global community, especially the progress made in the field since this earlier roadmap, bringing together experts primarily from the UK across the breadth of the photovoltaics community. The focus is both on the challenges in improving the efficiency, stability and levelized cost of electricity of current technologies for utility-scale PVs, as well as the fundamental questions in novel technologies that can have a significant impact on emerging markets, such as indoor PVs, space PVs, and agrivoltaics. We discuss challenges in advanced metrology and computational tools, as well as the growing synergies between PVs and solar fuels, and offer a perspective on the environmental sustainability of the PV industry. Through this roadmap, we emphasize promising pathways forward in both the short- and long-term, and for communities working on technologies across a range of maturity levels to learn from each other.Comment: 160 pages, 21 figure

CMB-S4

We describe the stage 4 cosmic microwave background ground-based experiment CMB-S4

Signal Amplification Gains of Compressive Sampling for Photocurrent Response Mapping of Optoelectronic Devices

Spatial characterisation methods for photodetectors and other optoelectronic devices are necessary for determining local performance, as well as detecting local defects and the non-uniformities of devices. Light beam induced current measurements provide local performance information about devices at their actual operating conditions. Compressed sensing current mapping offers additional specific advantages, such as high speed without the use of complicated experimental layouts or lock-in amplifiers. In this work, the signal amplification advantages of compressed sensing current mapping are presented. It is demonstrated that the sparsity of the patterns used for compressive sampling can be controlled to achieve significant signal amplification of at least two orders of magnitude, while maintaining or increasing the accuracy of measurements. Accurate measurements can be acquired even when a point-by-point scan yields high noise levels, which distort the accuracy of measurements. Pixel-by-pixel comparisons of photocurrent maps are realised using different sensing matrices and reconstruction algorithms for different samples. The results additionally demonstrate that such an optical system would be ideal for investigating compressed sensing procedures for other optical measurement applications, where experimental noise is included

Genetic diversity of Castanopsis acuminatissima (Bl.) A. DC. in northern Thailand and the selection of seed trees for forest restoration

International audienceno abstrac

Genetic variation of Prunus cerasoides D. Don, a framework tree species in northern Thailand

International audienceno abstrac

Precise Characterisation of Molecular Orientation in a Single Crystal Field-Effect Transistor Using Polarised Raman Spectroscopy

Charge transport in organic semiconductors is strongly dependent on the molecular orientation and packing, such that manipulation of this molecular packing is a proven technique for enhancing the charge mobility in organic transistors. However, quantitative measurements of molecular orientation in micrometre-scale structures are experimentally challenging. Several research groups have suggested polarised Raman spectroscopy as a suitable technique for these measurements and have been able to partially characterise molecular orientations using one or two orientation parameters. Here we demonstrate a new approach that allows quantitative measurements of molecular orientations in terms of three parameters, offering the complete characterisation of a three-dimensional orientation. We apply this new method to organic semiconductor molecules in a single crystal field-effect transistor in order to correlate the measured orientation with charge carrier mobility measurements. This approach offers the opportunity for micrometre resolution (diffraction limited) spatial mapping of molecular orientation using bench-top apparatus, enabling a rational approach towards controlling this orientation to achieve optimum device performance.This work was funded by the Department for Business, Innovation & Skills through the National Measurement System as part of the Innovation, Research and Development programme. M.S. acknowledges equipment funding from EPSRC UK Grant EP/I017569/1. S.G. and M.T would like to acknowledge the financial support from ERC StG 2012-306826 e-GAMES project and CIBER-BBN. Thanks are due to Prof. J.E. Anthony and his group from the University of Kentucky, for synthesising the functionalised pentacene derivative used in this work, and also, to J. Wade at Imperial College London for the DFT calculations.Peer reviewe