| 1. |
- Helbig, K. L., et al.
(author)
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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
- 2018
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In: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 103:5, s. 666-678
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Journal article (peer-reviewed)abstract
- Developmental and epileptic encephalopathies (DEEs) are severe neurodevelopmental disorders often beginning in infancy or early childhood that are characterized by intractable seizures, abundant epileptiform activity on EEG, and developmental impairment or regression. CACNA1E is highly expressed in the central nervous system and encodes the alpha(1)-subunit of the voltage-gated Ca(V)2.3 channel, which conducts high voltage-activated R-type calcium currents that initiate synaptic transmission. Using next-generation sequencing techniques, we identified de novo CACNA1E variants in 30 individuals with DEE, characterized by refractory infantile-onset seizures, severe hypotonia, and profound developmental impairment, often with congenital contractures, macrocephaly, hyperkinetic movement disorders, and early death. Most of the 14, partially recurring, variants cluster within the cytoplasmic ends of all four S6 segments, which form the presumed Ca(V)2.3 channel activation gate. Functional analysis of several S6 variants revealed consistent gain-of-function effects comprising facilitated voltage-dependent activation and slowed inactivation. Another variant located in the domain II S4-S5 linker results in facilitated activation and increased current density. Five participants achieved seizure freedom on the anti-epileptic drug topiramate, which blocks R-type calcium channels. We establish pathogenic variants in CACNA1E as a cause of DEEs and suggest facilitated R-type calcium currents as a disease mechanism for human epilepsy and developmental disorders.
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| 2. |
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| 3. |
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| 4. |
- Majchrzak, P., et al.
(author)
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Switching of the electron-phonon interaction in 1T-VSe2 assisted by hot carriers
- 2021
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In: Physical Review B. - : American Physical Society. - 2469-9950 .- 2469-9969. ; 103:24
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Journal article (peer-reviewed)abstract
- We apply an intense infrared laser pulse in order to perturb the electronic and vibrational states in the three-dimensional charge density wave material 1T-VSe2. Ultrafast snapshots of the light-induced hot carrier dynamics and nonequilibrium quasiparticle spectral function are collected using time- and angle-resolved photoemission spectroscopy. The hot carrier temperature and time-dependent electronic self-energy are extracted from the time-dependent spectral function, revealing that incoherent electron-phonon interactions heat the lattice above the charge density wave critical temperature on a timescale of (200±40) fs. Density functional perturbation theory calculations establish that the presence of hot carriers alters the overall phonon dispersion and quenches efficient low-energy acoustic phonon scattering channels, which results in a new quasiequilibrium state that is experimentally observed.
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| 5. |
- Eiteneer, D., et al.
(author)
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Depth-Resolved Composition and Electronic Structure of Buried Layers and Interfaces in a LaNiO3/SrTiO3 Superlatticefroni Soft- and Hard-X-ray Standing-Wave Angle-Resolved Photoemission
- 2016
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In: Journal of Electron Spectroscopy and Related Phenomena. - : Elsevier BV. - 0368-2048 .- 1873-2526. ; 211, s. 70-81
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Journal article (peer-reviewed)abstract
- LaNiO3 (LNO) is an intriguing member of the rare-earth nickelates in exhibiting a metal-insulator transition for a critical film thickness of about 4 unit cells [Son et al., Appl. Phys. Lett. 96, 062114 (2010)]; however, such thin films also show a transition to a metallic state in superlattices with SrTiO3 (STO) [Son et al., Appl. Phys. Lett. 97, 202109 (2010)]. In order to better understand this transition, we have studied a strained LNO/STO superlattice with 10 repeats of [4 unit-cell LNO/3 unit-cell STO] grown on an (LaAlO3)(0.3)(Sr2AlTaO6)(0.7) substrate using soft x-ray standing-wave-excited angle-resolved photoemission (SWARPES), together with soft- and hard- x-ray photoemission-measurements of core levels and densities-of-states valence spectra. The experimental results are compared with state-of-the-art density functional theory (DFT) calculations of band structures and densities of states. Using core-level rocking curves and x-ray optical modeling to assess the position of the standing wave, SWARPES measurements are carried out for various incidence angles and used to determine interface-specific changes in momentum-resolved electronic structure. We further show that the momentum-resolved behavior of the Ni 3d e(g) and t(2g) states near the Fermi level, as well as those at the bottom of the valence bands, is very similar to recently published SWARPES results for a related La0.7Sr0.3MnO3/SrTiO3 superlattice that was-studied using the same technique (Gray et al., Europhysics Letters 104, 17004 (2013)), which further validates this experimental approach and our conclusions. Our conclusions are also supported in several ways by comparison to DFT calculations for the parent materials and the superlattice, including layer-resolved density-of-states results.
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| 6. |
- Horio, M., et al.
(author)
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Orbital-selective metal skin induced by alkali-metal-dosing Mott-insulating Ca 2 RuO 4
- 2023
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In: Communications Physics. - 2399-3650. ; 6:1
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Journal article (peer-reviewed)abstract
- Doped Mott insulators are the starting point for interesting physics such as high temperature superconductivity and quantum spin liquids. For multi-band Mott insulators, orbital selective ground states have been envisioned. However, orbital selective metals and Mott insulators have been difficult to realize experimentally. Here we demonstrate by photoemission spectroscopy how Ca2RuO4, upon alkali-metal surface doping, develops a single-band metal skin. Our dynamical mean field theory calculations reveal that homogeneous electron doping of Ca2RuO4 results in a multi-band metal. All together, our results provide evidence for an orbital-selective Mott insulator breakdown, which is unachievable via simple electron doping. Supported by a cluster model and cluster perturbation theory calculations, we demonstrate a type of skin metal-insulator transition induced by surface dopants that orbital-selectively hybridize with the bulk Mott state and in turn produce coherent in-gap states.
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| 7. |
- Liu, Z. G., et al.
(author)
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Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features
- 2023
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In: Human Molecular Genetics. - 0964-6906 .- 1460-2083. ; 32:20, s. 2981-2995
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Journal article (peer-reviewed)abstract
- Protein phosphatase 1 regulatory subunit 3F (PPP1R3F) is a member of the glycogen targeting subunits (GTSs), which belong to the large group of regulatory subunits of protein phosphatase 1 (PP1), a major eukaryotic serine/threonine protein phosphatase that regulates diverse cellular processes. Here, we describe the identification of hemizygous variants in PPP1R3F associated with a novel X-linked recessive neurodevelopmental disorder in 13 unrelated individuals. This disorder is characterized by developmental delay, mild intellectual disability, neurobehavioral issues such as autism spectrum disorder, seizures and other neurological findings including tone, gait and cerebellar abnormalities. PPP1R3F variants segregated with disease in affected hemizygous males that inherited the variants from their heterozygous carrier mothers. We show that PPP1R3F is predominantly expressed in brain astrocytes and localizes to the endoplasmic reticulum in cells. Glycogen content in PPP1R3F knockout astrocytoma cells appears to be more sensitive to fluxes in extracellular glucose levels than in wild-type cells, suggesting that PPP1R3F functions in maintaining steady brain glycogen levels under changing glucose conditions. We performed functional studies on nine of the identified variants and observed defects in PP1 binding, protein stability, subcellular localization and regulation of glycogen metabolism in most of them. Collectively, the genetic and molecular data indicate that deleterious variants in PPP1R3F are associated with a new X-linked disorder of glycogen metabolism, highlighting the critical role of GTSs in neurological development. This research expands our understanding of neurodevelopmental disorders and the role of PP1 in brain development and proper function.
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| 8. |
- Sutter, D., et al.
(author)
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Hallmarks of Hunds coupling in the Mott insulator Ca2RuO4
- 2017
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In: Nature Communications. - : NATURE PUBLISHING GROUP. - 2041-1723. ; 8
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Journal article (peer-reviewed)abstract
- A paradigmatic case of multi-band Mott physics including spin-orbit and Hund's coupling is realized in Ca2RuO4. Progress in understanding the nature of this Mott insulating phase has been impeded by the lack of knowledge about the low-energy electronic structure. Here we provide-using angle-resolved photoemission electron spectroscopy-the band structure of the paramagnetic insulating phase of Ca2RuO4 and show how it features several distinct energy scales. Comparison to a simple analysis of atomic multiplets provides a quantitative estimate of the Hund's coupling J = 0.4 eV. Furthermore, the experimental spectra are in good agreement with electronic structure calculations performed with Dynamical Mean-Field Theory. The crystal field stabilization of the d(xy) orbital due to c-axis contraction is shown to be essential to explain the insulating phase. These results underscore the importance of multi-band physics, Coulomb interaction and Hund's coupling that together generate the Mott insulating state of Ca2RuO4.
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| 9. |
- Biswas, Deepnarayan, et al.
(author)
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Ultrafast Triggering of Insulator-Metal Transition in Two-Dimensional VSe2
- 2021
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In: Nano Letters. - : American Chemical Society (ACS). - 1530-6984 .- 1530-6992. ; 21:5, s. 1968-1975
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Journal article (peer-reviewed)abstract
- The transition-metal dichalcogenide VSe2 exhibits an increased charge density wave transition temperature and an emerging insulating phase when thinned to a single layer. Here, we investigate the interplay of electronic and lattice degrees of freedom that underpin these phases in single-layer VSe2 using ultrafast pump-probe photoemission spectroscopy. In the insulating state, we observe a light-induced closure of the energy gap, which we disentangle from the ensuing hot carrier dynamics by fitting a model spectral function to the time-dependent photoemission intensity. This procedure leads to an estimated time scale of 480 fs for the closure of the gap, which suggests that the phase transition in single-layer VSe2 is driven by electron-lattice interactions rather than by Mott-like electronic effects. The ultrafast optical switching of these interactions in SL VSe2 demonstrates the potential for controlling phase transitions in 2D materials with light.
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| 10. |
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| 11. |
- Glans, Peter, et al.
(author)
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Resonant x-ray emission spectroscopy of molecular oxygen
- 1996
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In: Physical Review Letters. - : AMER INST PHYSICS. - 0031-9007. ; 76:14, s. 2448-2451
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Journal article (peer-reviewed)abstract
- Resonant soft x-ray emission spectroscopy has been applied to study the issue of symmetry breaking upon core-hole excitation in molecular oxygen. The results provide direct evidence that the inversion symmetry is not broken in the core-excited states. Furthermore, the experiments themselves demonstrate a new experimental technique of broad applicability for studies of electronic structure and excitation dynamics in free atoms and molecules.
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| 12. |
- Guo, J.H., et al.
(author)
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Resonant excitation x-ray-fluorescence from C-60
- 1995
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In: Physical Review B Condensed Matter. - 0163-1829 .- 1095-3795. ; 52, s. 10681-
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Journal article (peer-reviewed)abstract
- X-ray fluorescence of condensed C-60 has been recorded in high resolution using monochromatic synchrotron radiation excitation. Strong intensity modulation of constituent spectral features is observed with varying excitation energy up to 10 eV above threshold. The energy dependence is interpreted as due to resonant inelastic x-ray scattering, leading to symmetry selection rules governing the two-photon process in the fully symmetric molecule.
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| 13. |
- GUO, JH, et al.
(author)
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RESONANT EXCITATION X-RAY-FLUORESCENCE FROM C-60
- 1995
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In: PHYSICAL REVIEW B-CONDENSED MATTER. - : AMER INST PHYSICS. ; 52:15
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Other publication (other academic/artistic)abstract
- X-ray fluorescence of condensed C-60 has been recorded in high resolution using monochromatic synchrotron radiation excitation. Strong intensity modulation of constituent spectral features is observed with varying excitation energy up to 10 eV above thres
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| 14. |
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| 15. |
- Rotenberg, E, et al.
(author)
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Local-field effects on photoemission of C-60
- 1996
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In: PHYSICAL REVIEW B-CONDENSED MATTER. - 0163-1829. ; 54:8, s. R5279-R5282
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Journal article (other academic/artistic)abstract
- The surface core-level shift in C 1s soft x-ray photoemission spectroscopy has been experimentally observed in films of C-60 on Al. A value of 0.100+/-0.025 eV has been determined. Theoretical calculations are presented which show that the core hole is un
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| 16. |
- Wyrick, J., et al.
(author)
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Do Two-Dimensional "Noble Gas Atoms" Produce Molecular Honeycombs at a Metal Surface?
- 2011
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In: Nano Letters. - : American Chemical Society (ACS). - 1530-6992 .- 1530-6984. ; 11:7, s. 2944-2948
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Journal article (peer-reviewed)abstract
- Anthraquinone self-assembles on Cu(111) into a giant honeycomb network with exactly three molecules on each side. Here we propose that the exceptional degree of order achieved in this system can be explained as a consequence of the confinement of substrate electrons in the pores, with the pore size tailored so that the confined electrons can adopt a noble-gas-like two-dimensional quasi-atom configuration with two filled shells. Formation of identical pores in a related adsorption system (at different overall periodicity due to the different molecule size) corroborates this concept. A combination of photoemission spectroscopy with density functional theory computations (including van der Waals interactions) of adsorbate-substrate interactions allows quantum mechanical modeling of the spectra of the resultant quasi-atoms and their energetics.
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