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Université de Fribourg

The FKBP4 gene, encoding a regulator of the androgen receptor signaling pathway, is a novel candidate gene for androgen insensitivity syndrome

Ilaslan, Erkut ; Markosyan, Renata ; Sproll, Patrick ; Stevenson, Brian J. ; Sajek, Malgorzata ; Sajek, Marcin P. ; Hayrapetyan, Hasmik ; Sarkisian, Tamara ; Livshits, Ludmila ; Nef, Serge ; Jaruzelska, Jadwiga ; Kusz-Zamelczyk, Kamila

In: International Journal of Molecular Sciences, 2020, vol. 21, no. 21, p. 8403

Androgen insensitivity syndrome (AIS), manifesting incomplete virilization in 46,XY individuals, is caused mostly by androgen receptor (AR) gene mutations. Therefore, a search for AR mutations is a routine approach in AIS diagnosis. However, some AIS patients lack AR mutations, which complicates the diagnosis. Here, we describe a patient suffering from partial androgen insensitivity syndrome...

Université de Fribourg

Backbone and side chain NMR assignments of the H-NOX domain from Nostoc sp. in complex with BAY58-2667 (cinaciguat)

Makrynitsa, Garyfallia I. ; Argyriou, Aikaterini I. ; Dalkas, Georgios ; Georgopoulou, Dimitra A. ; Bantzi, Marina ; Giannis, Athanassios ; Papapetropoulos, Andreas ; Spyroulias, Georgios A.

In: Biomolecular NMR Assignments, 2020, p. -

Soluble guanylate cyclase (sGC) enzyme is activated by the gaseous signaling agent nitric oxide (NO) and triggers the conversion of GTP (guanosine 5′-triphosphate) to cGMP (cyclic guanylyl monophosphate). It contains the heme binding H-NOX (heme- nitric oxide/oxygen binding) domain which serves as the sensor of NO and it is highly conserved across eukaryotes and bacteria as well. Many...

Université de Fribourg

Auxin-transporting ABC transporters are defined by a conserved D/E-P motif regulated by a prolylisomerase

Hao, Pengchao ; Xia, Jian ; Liu, Jie ; Donato, Martin Di ; Pakula, Konrad ; Bailly, Aurélien ; Jasinski, Michal ; Geisler, Markus

In: Journal of Biological Chemistry, 2020, vol. 295, no. 37, p. 13094–13105

The plant hormone auxin must be transported throughout plants in a cell-to-cell manner to affect its various physiological functions. ABCB transporters are critical for this polar auxin distribution, but the regulatory mechanisms controlling their function is not fully understood. The auxin transport activity of ABCB1 was suggested to be regulated by a physical interaction with FKBP42/Twisted...

Université de Fribourg

Self-assembly of glycerol monooleate with the antimicrobial peptide LL-37: a molecular dynamics study

Innocenti Malini, R. ; Zabara, M. ; Gontsarik, M. ; Maniura-Weber, K. ; Rossi, R. M. ; Spano, F. ; Salentinig, Stefan.

In: RSC Advances, 2020, vol. 10, no. 14, p. 8291–8302

Over the past decade, the rapid increase in the incidence of antibiotic-resistant bacteria has promoted research towards alternative therapeutics such as antimicrobial peptides (AMPs), but their biodegradability limits their application. Encapsulation into nanocarriers based on the self-assembly of surfactant-like lipids is emerging as a promising strategy for the improvement of AMPs'...

Università della Svizzera italiana

Conformational dynamics and stability of U-shaped and S-shaped amyloid β assemblies

Grasso, Gianvito ; Rebella, Martina ; Muscat, Stefano ; Morbiducci, Umberto ; Tuszynski, Jack ; Danani, Andrea ; Deriu, Marco A.

In: International journal of molecular sciences, 2018, vol. 19, no. 2, p. 571

Alzheimer’s disease is the most fatal neurodegenerative disorder characterized by the aggregation and deposition of Amyloid β (Aβ) oligomers in the brain of patients. Two principal variants of Aβ exist in humans: Aβ1–40 and Aβ1–42. The former is the most abundant in the plaques, while the latter is the most toxic species and forms fibrils more rapidly. Interestingly, fibrils of...

Université de Fribourg

Novel reference-free methods for the determination of the instrumental response of Laue-type bent crystal spectrometers

Szlachetko, Monika ; Hoszowska, Joanna ; Szlachetko, Jakub ; Dousse, Jean-Claude

In: Journal of Analytical Atomic Spectrometry, 2019, vol. 34, no. 11, p. 2325–2332

We report on novel reference-free methods to determine the instrumental resolution of transmission-type bent crystal spectrometers. The novel methods are based on the measurements of a selected X-ray line in several orders of diffraction. It is shown that the angular broadening of the spectrometer and the natural linewidth of the selected transition can be obtained directly from the novel...

Université de Fribourg

A DuMond-type crystal spectrometer for synchrotron-based X-ray emission studies in the energy range of 15–26 keV

Jagodziński, Paweł ; Szlachetko, Jakub ; Dousse, Jean-Claude ; Hoszowska, Joanna ; Szlachetko, Monika ; Vogelsang, U. ; Banaś, Dariusz ; Pakendorf, T. ; Meents, A. ; Bokhoven, Jeroen A. van ; Kubala-Kukuś, Aldona ; Pajek, Marek ; Nachtegaal, Maarten

In: Review of Scientific Instruments, 2019, vol. 90, no. 6, p. 063106

The design and performance of a high-resolution transmission-type X-ray spectrometer for use in the 15–26 keV energy range at synchrotron light sources is reported. Monte Carlo X-ray-tracing simulations were performed to optimize the performance of the transmission-type spectrometer, based on the DuMond geometry, for use at the Super X-ray absorption beamline of the Swiss Light Source at...