Search results for "genetics [Spinocerebellar Degenerations]"
showing 10 items of 3032 documents
Novel Translational Read-through–Inducing Drugs as a Therapeutic Option for Shwachman-Diamond Syndrome
2022
Shwachman-Diamond syndrome (SDS) is one of the most commonly inherited bone marrow failure syndromes (IBMFS). In SDS, bone marrow is hypocellular, with marked neutropenia. Moreover, SDS patients have a high risk of developing myelodysplastic syndrome (MDS), which in turn increases the risk of acute myeloid leukemia (AML) from an early age. Most SDS patients are heterozygous for the c.183-184TA>CT (K62X) SBDS nonsense mutation. Fortunately, a plethora of translational read-through inducing drugs (TRIDs) have been developed and tested for several rare inherited diseases due to nonsense mutations so far. The authors previously demonstrated that ataluren (PTC124) can restore full-length SBDS…
Comprehensive analysis of interacting proteins and genome-wide location studies of the Sas3-dependent NuA3 histone acetyltransferase complex
2014
Highlights • We characterise Sas3p and Gcn5p active HAT complexes in WT and deleted TAP-strains. • We confirm that Pdp3p interacts with NuA3, histones and chromatin regulators. • Pdp3p MS-analysis reveals its phosphorylation, ubiquitination and methylation. • Sas3p can substitute Gcn5p in acetylation of histone H3K14 but not of H3K9. • Genome-wide profiling of Sas3p supports its involvement in transcriptional elongation.
Adipokines in obesity and metabolic diseases
2020
Adipose tissue secretes many adipokines that regulate important physiological functions. Growing studies have highlighted that these bioactive molecules may contribute to the development of metabolic and cardiovascular diseases. Adipokines exert systemic metabolic effects and independent activity on numerous cells of the cardiovascular system, including cardiomyocytes and vascular cell walls. Adiponectin shows anti-inflammatory and anti-atherosclerotic activity on blood vessels. Conversely, resistin is endowed with pro-inflammatory effects and stimulates the proliferation of smooth muscle cells, thus promoting the development of atherosclerotic plaque. Leptin plays an important role in card…
High-Fat Diet Induces Pre-Diabetes and Distinct Sex-Specific Metabolic Alterations in Negr1-Deficient Mice
2021
In the large GWAS studies, NEGR1 gene has been one of the most significant gene loci for body mass phenotype. The purpose of the current study was to clarify the role of NEGR1 in the maintenance of systemic metabolism, including glucose homeostasis, by using both male and female Negr1−/− mice receiving a standard or high fat diet (HFD). We found that 6 weeks of HFD leads to higher levels of blood glucose in Negr1−/− mice. In the glucose tolerance test, HFD induced phenotype difference only in male mice
Menopausal symptoms and cardiometabolic risk factors in middle-aged women : A cross-sectional and longitudinal study with 4-year follow-up
2023
Objective To study associations of menopausal symptoms with cardiometabolic risk factors. Study design A cross-sectional and longitudinal study of a representative population sample of 1393 women aged 47–55 years with a sub-sample of 298 followed for four years. The numbers of vasomotor, psychological, somatic or pain, and urogenital menopausal symptoms were ascertained at baseline through self-report. Their associations with cardiometabolic risk factors were studied using linear regression and linear mixed-effect models. Models were adjusted for age, menopausal status, body mass index, the use of hormonal preparations, education, smoking, and alcohol consumption. Main outcome measures Card…
Single Crystal Sub‐Nanometer Sized Cu6(SR)6 Clusters: Structure, Photophysical Properties, and Electrochemical Sensing
2016
Organic ligand-protected metal nanoclusters have attracted extensively attention owing to their atomically precise composition, determined atom-packing structure and the fascinating properties and promising applications. To date, most research has been focused on thiol-stabilized gold and silver nanoclusters and their single crystal structures. Here the single crystal copper nanocluster species (Cu6(SC7H4NO)6) determined by X-ray crystallography and mass spectrometry is presented. The hexanuclear copper core is a distorted octahedron surrounded by six mercaptobenzoxazole ligands as protecting units through a simple bridging bonding motif. Density functional theory (DFT) calculations provide…
Temporal spying and concealing process in fibre-optic data transmission systems through polarization bypass
2014
Recent research has been focused on the ability to manipulate a light beam in such a way to hide, namely to cloak, an event over a finite time or localization in space. The main idea is to create a hole or a gap in the spatial or time domain so as to allow for an object or data to be kept hidden for a while and then to be restored. By enlarging the field of applications of this concept to telecommunications, researchers have recently reported the possibility to hide transmitted data in an optical fibre. Here we report the first experimental demonstration of perpetual temporal spying and blinding process of optical data in fibre-optic transmission line based on polarization bypass. We succes…
Unravelling the Intertwined Atomic and Bulk Nature of Localised Excitons by Attosecond Spectroscopy
2021
The electro-optical properties of most semiconductors and insulators of technological interest are dominated by the presence of electron-hole quasi-particles, called excitons. The manipulation of excitons in dielectrics has recently received great attention, with possible applications in different fields including optoelectronics and photonics. Here, we apply attosecond transient reflection spectroscopy in a sequential two-foci geometry and observe sub-femtosecond dynamics of a core-level exciton in bulk MgF2 single crystals. Furthermore, we access absolute phase delays, which allow for an unambiguous comparison with theoretical calculations. Our results show that excitons surprisingly exhi…
Monitoring Commercial Starter Culture Development in Presence of Red Grape Pomace Powder to Produce Polyphenol-Enriched Fresh Ovine Cheeses at Indust…
2021
Red grape Nero d’Avola cultivar grape pomace powder (GPP) was applied during fresh ovine cheese production in order to increase polyphenol content. Before cheeses were produced, the bacteria of a freeze-dried commercial starter culture were isolated and tested in vitro against GPP. Two dominant strains, both resistant to GPP, were identified. Thestarter culture was inoculated in pasteurized ewe’s milk and the curd was divided into two bulks, one added with 1% (w/w) GPP and another one GPP-free. GPP did not influence the starter culture development, since lactic acid bacteria (LAB) counts were 109 CFU/g in both cheeses at 30 d. To exclude the interference of indigenous LAB, the pasteurized m…