Deficiency of the Golgi enzyme UDP-Gal:N-acetylglucosamine beta-1,4-galactosyltransferase I (beta4GalT I) (E.C.2.4.1.38) causes a new congenital disorder of glycosylation (CDG), designated type IId ...(CDG-IId), a severe neurologic disease characterized by a hydrocephalus, myopathy, and blood-clotting defects. Analysis of oligosaccharides from serum transferrin by HPLC, mass spectrometry, and lectin binding revealed the loss of sialic acid and galactose residues. In skin fibroblasts and leukocytes, galactosyltransferase activity was reduced to 5% that of controls. In fibroblasts, a truncated polypeptide was detected that was about 12 kDa smaller in size than wild-type beta4GalT I and that failed to localize to the Golgi apparatus. Sequencing of the beta4GalT I cDNA and gene revealed an insertion of a single nucleotide (1031-1032insC) leading to premature translation stop and loss of the C-terminal 50 amino acids of the enzyme. The patient was homozygous and his parents heterozygous for this mutation. Expression of a corresponding mutant cDNA in COS-7 cells led to the synthesis of a truncated, inactive polypeptide, which localized to the endoplasmic reticulum.
Phys. Rev. Lett. 121, 156401 (2018) The semimetal MoTe$_2$ is studied by spin- and angle- resolved photoemission
spectroscopy to probe the detailed electronic structure underlying its broad
range of ...response behavior. A novel spin-texture is uncovered in the bulk Fermi
surface of the non-centrosymmetric structural phase that is consistent with
first-principles calculations. The spin-texture is three-dimensional, both in
terms of momentum dependence and spin-orientation, and is not completely
suppressed above the centrosymmetry-breaking transition temperature. Two types
of surface Fermi arc are found to persist well above the transition
temperature. The appearance of a large Fermi arc depends strongly on thermal
history, and the electron quasiparticle lifetimes are greatly enhanced in the
initial cooling. The results indicate that polar instability with strong
electron-lattice interactions exists near the surface when the bulk is largely
in a centrosymmetric phase.
Exoplanet science is one of the most thriving fields of modern astrophysics. A major goal is the atmospheric characterization of dozens of small, terrestrial exoplanets in order to search for ...signatures in their atmospheres that indicate biological activity, assess their ability to provide conditions for life as we know it, and investigate their expected atmospheric diversity. None of the currently adopted projects or missions, from ground or in space, can address these goals. In this White Paper we argue that a large space-based mission designed to detect and investigate thermal emission spectra of terrestrial exoplanets in the MIR wavelength range provides unique scientific potential to address these goals and surpasses the capabilities of other approaches. While NASA might be focusing on large missions that aim to detect terrestrial planets in reflected light, ESA has the opportunity to take leadership and spearhead the development of a large MIR exoplanet mission within the scope of the "Voyage 2050" long-term plan establishing Europe at the forefront of exoplanet science for decades to come. Given the ambitious science goals of such a mission, additional international partners might be interested in participating and contributing to a roadmap that, in the long run, leads to a successful implementation. A new, dedicated development program funded by ESA to help reduce development and implementation cost and further push some of the required key technologies would be a first important step in this direction. Ultimately, a large MIR exoplanet imaging mission will be needed to help answer one of mankind's most fundamental questions: "How unique is our Earth?"
To evaluate the prognostic significance of presence, intensity, and extent of amino acid uptake in patients with suspected primary or recurrent brain tumors.
We retrospectively analyzed 181 ...consecutive studies of amino acid uptake using single-photon emission computed tomography and the amino acid l-3-(123)Iiodo-alpha-methyltyrosine (IMT). In a blinded analysis, all studies were evaluated for presence, maximal uptake (IMT(max)), and extent (IMT(ext)) of focal tracer uptake.
The most frequent tumors were 53 astrocytomas (World Health Organization Grade I-III), 41 glioblastomas, 16 metastases, 13 oligodendrogliomas (Grade II-III), and 10 medulloblastomas. The other patients exhibited various parenchymal tumors or nonneoplastic lesions. IMT uptake was present in 69% of the patients with IMT(max) ranging from 1.4 to 6.2. IMT(max) and IMT(ext) were significant predictors of survival in the whole group. When the group was divided according to primary versus recurrent tumor, only the primary tumors achieved a high level of significance (P < 0.01). When patients without any IMT uptake were excluded from the analysis, statistical significance for both IMT(max) and IMT(ext) was lost. Multiple regression analysis, including IMT(max), IMT(ext), age, and tumor grade, revealed only extent of IMT uptake as an independent predictor of prognosis.
Absence of IMT uptake is a significant predictor of long-term survival in patients with suspected primary or recurrent brain tumors. Only the extent of a given lesion provided minor supplementary prognostic information as compared with histopathology and age. These findings suggest caution in relating high amino acid uptake values to poor prognosis, despite the capability of amino acid imaging to help determine the presence and extent of gliomas.
Small, highly absorbing points are randomly present on the surfaces of the main interferometer optics in Advanced LIGO. The resulting nano-meter scale thermo-elastic deformations and substrate lenses ...from these micron-scale absorbers significantly reduces the sensitivity of the interferometer directly though a reduction in the power-recycling gain and indirect interactions with the feedback control system. We review the expected surface deformation from point absorbers and provide a pedagogical description of the impact on power build-up in second generation gravitational wave detectors (dual-recycled Fabry-Perot Michelson interferometers). This analysis predicts that the power-dependent reduction in interferometer performance will significantly degrade maximum stored power by up to 50% and hence, limit GW sensitivity, but suggests system wide corrections that can be implemented in current and future GW detectors. This is particularly pressing given that future GW detectors call for an order of magnitude more stored power than currently used in Advanced LIGO in Observing Run 3. We briefly review strategies to mitigate the effects of point absorbers in current and future GW wave detectors to maximize the success of these enterprises.
Neuroserpin (PI12), initially identified as an axonally secreted protein in cultured chicken dorsal root ganglion neurons, belongs to the serpin family of the serine protease inhibitors and is mainly ...expressed by neurons of both the developing and the adult nervous system. Here we report on the cloning and structural characterization of the neuroserpin gene of the mouse. The murine neuroserpin gene spans over more than 55
kb and consists of nine exons. The positions and phases of the exon–intron borders are completely conserved between neuroserpin and its nearest homologues, protease nexin-1 and plasminogen activator inhibitor-1. A single transcription initiation site, which is colocalized with a potential initiation (Inr) sequence, has been determined by primer extension and RNase protection. Sequence analysis revealed a TATA-less promoter with a CAAT box and several sites for the general transcription factor Sp1 and the neuron-specific transcription factor AP-2.
Spiroozonides of tropones undergo an unusually facile fragmentation via the coarctate Möbius transition state 1. The ozonides are generated from formaldehyde O‐oxide and tropone derivatives at −90°C. ...Depending on the substitution, they fragment at temperatures between −60 to +50°C to give carbon dioxide, formaldehyde, and benzene derivatives.
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