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- Wiessner, M., et al.
(författare)
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Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
- 2021
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Ingår i: Brain : a journal of neurology. - : Oxford University Press (OUP). - 0006-8950 .- 1460-2156. ; 144:5, s. 1422-1434
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Tidskriftsartikel (refereegranskat)abstract
- Human 4-hydroxyphenylpyruvate dioxygenase-like (HPDL) is a putative iron-containing non-heme oxygenase of unknown specificity and biological significance. We report 25 families containing 34 individuals with neurological disease associated with biallelic HPDL variants. Phenotypes ranged from juvenile-onset pure hereditary spastic paraplegia to infantile-onset spasticity and global developmental delays, sometimes complicated by episodes of neurological and respiratory decompensation. Variants included bona fide pathogenic truncating changes, although most were missense substitutions. Functionality of variants could not be determined directly as the enzymatic specificity of HPDL is unknown; however, when HPDL missense substitutions were introduced into 4-hydroxyphenylpyruvate dioxygenase (HPPD, an HPDL orthologue), they impaired the ability of HPPD to convert 4-hydroxyphenylpyruvate into homogentisate. Moreover, three additional sets of experiments provided evidence for a role of HPDL in the nervous system and further supported its link to neurological disease: (i) HPDL was expressed in the nervous system and expression increased during neural differentiation; (ii) knockdown of zebrafish hpdl led to abnormal motor behaviour, replicating aspects of the human disease; and (iii) HPDL localized to mitochondria, consistent with mitochondrial disease that is often associated with neurological manifestations. Our findings suggest that biallelic HPDL variants cause a syndrome varying from juvenile-onset pure hereditary spastic paraplegia to infantile-onset spastic tetraplegia associated with global developmental delays. © 2021 The Author(s).
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- Zurlo, A., et al.
(författare)
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Orbital and dynamical analysis of the system around HR 8799 New astrometric epochs from VLT/SPHERE and LBT/LUCI
- 2022
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 666
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Tidskriftsartikel (refereegranskat)abstract
- Context. HR 8799 is a young planetary system composed of four planets and a double debris belt. Being the first multi-planetary system discovered with the direct imaging technique, it has been observed extensively since 1998. This wide baseline of astrometric measurements, counting over 50 observations in 20 years, permits a detailed orbital and dynamical analysis of the system.Aims. To explore the orbital parameters of the planets, their dynamical history, and the planet-to-disk interaction, we made follow-up observations of the system during the VLT/SPHERE guaranteed time observation program. We obtained 21 observations, most of them in favorable conditions. In addition, we observed HR 8799 with the instrument LUCI at the Large Binocular Telescope (LBT).Methods. All the observations were reduced with state-of-the-art algorithms implemented to apply the spectral and angular differential imaging method. We re-reduced the SPHERE data obtained during the commissioning of the instrument and in three open-time programs to have homogeneous astrometry. The precise position of the four planets with respect to the host star was calculated by exploiting the fake negative companions method. We obtained an astrometric precision of the order of 6 mas in the worst case and 1 mas in the best case. To improve the orbital fitting, we also took into account all of the astrometric data available in the literature. From the photometric measurements obtained in different wavelengths, we estimated the masses of the planets following the evolutionary models.Results. We obtained updated parameters for the orbits with the assumption of coplanarity, relatively small eccentricities, and periods very close to the 2:1 resonance. We also refined the dynamical mass of each planet and the parallax of the system (24.49 ± 0.07 mas), which overlap with the recent Gaia eDR3/DR3 estimate. Hydrodynamical simulations suggest that inward migration of the planets caused by the interaction with the disk might be responsible for the planets being locked in resonance. We also conducted detailed N-body simulations indicating possible positions of a putative fifth planet with a mass below the present detection limits of ≃3 MJup.
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- Downing, Andrea S., et al.
(författare)
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Coupled human and natural system dynamics as key to the sustainability of Lake Victoria's ecosystem services
- 2014
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Ingår i: Ecology and Society. - 1708-3087. ; 19:4, s. 31-
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Tidskriftsartikel (refereegranskat)abstract
- East Africa's Lake Victoria provides resources and services to millions of people on the lake's shores and abroad. In particular, the lake's fisheries are an important source of protein, employment, and international economic connections for the whole region. Nonetheless, stock dynamics are poorly understood and currently unpredictable. Furthermore, fishery dynamics are intricately connected to other supporting services of the lake as well as to lakeshore societies and economies. Much research has been carried out piecemeal on different aspects of Lake Victoria's system; e.g., societies, biodiversity, fisheries, and eutrophication. However, to disentangle drivers and dynamics of change in this complex system, we need to put these pieces together and analyze the system as a whole. We did so by first building a qualitative model of the lake's social-ecological system. We then investigated the model system through a qualitative loop analysis, and finally examined effects of changes on the system state and structure. The model and its contextual analysis allowed us to investigate system-wide chain reactions resulting from disturbances. Importantly, we built a tool that can be used to analyze the cascading effects of management options and establish the requirements for their success. We found that high connectedness of the system at the exploitation level, through fisheries having multiple target stocks, can increase the stocks' vulnerability to exploitation but reduce society's vulnerability to variability in individual stocks. We describe how there are multiple pathways to any change in the system, which makes it difficult to identify the root cause of changes but also broadens the management toolkit. Also, we illustrate how nutrient enrichment is not a self-regulating process, and that explicit management is necessary to halt or reverse eutrophication. This model is simple and usable to assess system-wide effects of management policies, and can serve as a paving stone for future quantitative analyses of system dynamics at local scales.
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- Gómez-Cuba, F., et al.
(författare)
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Bandwidth occupancy of non-coherent wideband fading channels
- 2015
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Ingår i: IEEE International Symposium on Information Theory - Proceedings. - : IEEE. - 9781467377041 ; , s. 2351-2355
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Konferensbidrag (refereegranskat)abstract
- Peaky and non-peaky signaling schemes have long been considered species apart in non-coherent wideband fading channels, as the first approaches asymptotically the linear-in-power capacity of a wideband AWGN channel with the same SNR, whereas the second reaches a nearly power-limited peak rate at some finite critical bandwidth and then falls to zero as bandwidth grows to infinity. In this paper it is shown that this distinction is in fact an artifact of the limited attention paid in the past to the product between the bandwidth and the fraction of time it is in use. This fundamental quantity, that is termed bandwidth occupancy, measures average bandwidth usage over time. The two types of signaling in the literature are harmonized to show that, for any type of signals, there is a fundamental limit - a critical bandwidth occupancy. All signaling schemes with the same bandwidth occupancy approach the capacity of wideband AWGN channels with the same asymptotic behavior as the bandwidth occupancy grows to its critical value. For a bandwidth occupancy above the critical, rate decreases to zero as the bandwidth occupancy goes to infinity.
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| 9. |
- Medard, C., et al.
(författare)
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Oxygen reduction by Fe-based catalysts in PEM fuel cell conditions : Activity and selectivity of the catalysts obtained with two Fe precursors and various carbon supports
- 2006
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Ingår i: Electrochimica Acta. - : Elsevier BV. - 0013-4686 .- 1873-3859. ; 51:16, s. 3202-3213
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Tidskriftsartikel (refereegranskat)abstract
- Fe-based catalysts for the oxygen reduction reaction (ORR) in polymer electrolyte membrane (PEM) fuel cell conditions have been prepared by adsorbing two Fe precursors on various commercial and developmental carbon supports. The resulting materials have been pyrolyzed at 900C in an atmosphere rich in NH3. The Fe precursors were: iron acetate (FeAc) and iron tetramethoxy phenylporphyrin chloride (ClFeTMPP). The nominal Fe content was 2000 ppm (0.2 wt.%). The carbon supports were HS300, Printex XE-2, Norit SX-Ultra, Ketjenblack, EC-600JD, Acetylene Black, Vulcan XC-72R, Black Pearls 2000, and two developmental carbon black powders, RC1 and RC2 from Sid Richardson Carbon Corporation. The catalyst activity for ORR has been analyzed in fuel cell tests at 80 C as well as by cyclic voltammetry in O-2 saturated H2SO4 at pH 1 and 25 C, while their selectivity was determined by rotating ring-disk electrode in the same electrolyte. A large effect of the carbon support was found on the activity and on the selectivity of the catalysts made with both Fe precursors. The most important parameter in both cases is the nitrogen content of the catalyst surface. High nitrogen content improves both activity towards ORR and selectivity towards the reduction of oxygen to water (4e(-) reaction). A possible interpretation of the activity and selectivity results is to explain them in terms of two Fe-based catalytic sites: FeN2/C and FeN4/C. Increasing the relative amount of FeN2/C improves both activity and selectivity of the catalysts towards the 4e(-) reaction, while most of the peroxide formation may be attributed to FeN4/C. When FeAc is used as Fe precursor, iron oxide and/or hydroxide are also formed. The latter materials have low catalytic activity for ORR and reduce O-2 mainly to H2O2.
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