Search results for "Axia"
showing 10 items of 638 documents
Phenotype Correlation and Intergenerational Dynamics of the Friedreich Ataxia GAA Trinucleotide Repeat
1997
Summary The Friedreich ataxia (FA) mutation has recently been identified as an unstable trinucleotide GAA repeat present 7–22 times in the normal population but amplified as many as > 1, 000 times in FA. Since it is an autosomal recessive disease, FA does not show typical features observed in other dynamic mutation disorders, such as genetic anticipation. We have analyzed the GAA repeat in 104 FA patients and 163 carrier relatives previously defined by linkage analysis. The GAA expansion was detected in all patients, most (94%) of them being ho-mozygous for the mutation. We have demonstrated that clinical variability in FA is related to the size of the expanded alleles: milder forms of the …
Causative role of oxidative stress in a Drosophila model of Friedreich ataxia
2006
Friedreich ataxia (FA), the most common form of hereditary ataxia, is caused by a deficit in the mitochondrial protein frataxin. While several hypotheses have been suggested, frataxin function is not well understood. Oxidative stress has been suggested to play a role in the pathophysiology of FA, but this view has been recently questioned, and its link to frataxin is unclear. Here, we report the use of RNA interference (RNAi) to suppress the Drosophila frataxin gene (fh) expression. This model system parallels the situation in FA patients, namely a moderate systemic reduction of frataxin levels compatible with normal embryonic development. Under these conditions, fh-RNAi flies showed a shor…
Deferiprone and idebenone rescue frataxin depletion phenotypes in a Drosophila model of Friedreich's ataxia
2013
Friedreich's ataxia (FRDA), the most common inherited ataxia, is a neurodegenerative disease caused by a reduction in the levels of the mitochondrial protein frataxin, the function of which remains a controversial matter. Several therapeutic approaches are being developed to increase frataxin expression and reduce the intramitochondrial iron aggregates and oxidative damage found in this disease. In this study, we tested separately the response of a Drosophila RNAi model of FRDA ( Llorens et al., 2007) to treatment with the iron chelator deferiprone (DFP) and the antioxidant idebenone (IDE), which are both in clinical trials. The FRDA flies have a shortened life span and impaired motor coord…
A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever
2021
Aminoacyl-tRNA synthetases (aaRS) are ubiquitously expressed enzymes responsible for ligating amino acids to their cognate tRNA molecules through an aminoacylation reaction. The resulting aminoacyl-tRNA is delivered to ribosome elongation factors to participate in protein synthesis. Seryl-tRNA synthetase (SARS1) is one of the cytosolic aaRSs and catalyzes serine attachment to tRNASer . SARS1 deficiency has already been associated with moderate intellectual disability, ataxia, muscle weakness, and seizure in one family. We describe here a new clinical presentation including developmental delay, central deafness, cardiomyopathy, and metabolic decompensation during fever leading to death, in a…
Senataxin defective in ataxia oculomotor apraxia type 2 is involved in the defence against oxidative DNA damage
2007
Adefective response to DNA damage is observed in several human autosomal recessive ataxias with oculomotor apraxia, including ataxia-telangiectasia. We report that senataxin, defective in ataxia oculomotor apraxia (AOA) type 2, is a nuclear protein involved in the DNA damage response. AOA2 cells are sensitive to H2O2, camptothecin, and mitomycin C, but not to ionizing radiation, and sensitivity was rescued with full-length SETX cDNA. AOA2 cells exhibited constitutive oxidative DNA damage and enhanced chromosomal instability in response to H2O2. Rejoining of H2O2-induced DNA double-strand breaks (DSBs) was significantly reduced in AOA2 cells compared to controls, and there was no evidence fo…
Axia ierīču VMode funkcijas un palīgizeju testu automatizācija
2017
Kvalifikācijas darbs apraksta Axia Power Station un Axia Fusion testēšanas sistēmas VMode un Aux Sends izstrādi. Sistēma pārbauda VMode funkcionalitāti Axia Power Station (APS) un Axia Fusion gan Standarta Livewire audio straumei, gan Surround audio straumei. Tas arī pārbauda četrus Aux Sends (Aux Send A, Aux Send B, Aux Send C un Aux Send D) Axia Fusion dažādos ‘Gain’ kontrollos. Sistēma ir paredzēta lietotājiem, kuri strādā ar Axia Power Stations un Axia Fusions.
A Self-Contained Electro-Hydraulic Cylinder: Modeling, Control Design, Simulation and Experimental Validation
2018
Master's thesis Mechatronics MAS500 - University of Agder 2018 In the constant effort to improve the efficiency of hydraulic systems, the pressure drop over hydraulic valves has been one of the major obstacles. In the Self-Contained Electro-Hydraulic Cylinder, the directional valve and the hydraulic power unit have been replaced by a bi-directional axial piston pump and a Permanent Magnet Synchronous Motor. Actuation of the cylinder is performed by controlling the direction of rotation and the velocity of the motor. Originally the purpose of this project was to: "Design a proper control algorithm for an existing novel selfcontained electro-hydraulic cylinder, implement it on the main boom o…
Persistence of C-reactive protein increased levels and high disease activity are predictors of cardiovascular disease in patients with axial spondylo…
2022
AbstractAn accurate prediction of cardiovascular (CV) risk in patients with Axial Spondyloarthritis (axSpA) is a strong unmet need, as CV risk algorithms poorly perform in these subjects. The aim of this study was to establish whether the persistence of high C-reactive protein (CRP) and high disease activity may be considered predictive factors of CVD in axSpA. 295 patients without personal history of CVD, were consecutively enrolled in this study. To evaluate the relationship between CV events occurrence (fatal and non-fatal) and the persistence of increased CRP levels, ASDAS (Ankylosing Spondylitis Disease Activity Score) > 2.1, and BASDAI (Bath Ankylosing Spondylitis Disease Activity)…
Seismic stratigraphy of upper Quaternary shallow-water contourite drifts in the Gulf of Taranto (Ionian Sea, southern Italy)
2018
Abstract The occurrence of articulated seafloor morphology over continental shelf-upper slope environments, may result in a significant change in the patterns and intensity of basin-scale thermohaline circulation during eustatic sea-level fluctuations. These changes may cause, in turn, erosion, deposition and/or transport of sediments at the seafloor, to form shallow-water contourite drifts. Here we investigate this process in the NW sector of the Gulf of Taranto (Ionian Sea) during and following the Last Glacial Maximum (LGM), by integrating multibeam bathymetric data, ultra-high resolution seismic-reflection data and gravity core data. Sea level fall caused subaerial exposure of the summi…
Simplified analytical model for moment–axial force domain in the presence of shear in R.C. members externally strengthened with steel cages
2015
Equations for a hand calculation of moment–axial force domain in the presence of shear for R.C. beam/column externally strengthened with steel angles and strips are developed. The analytical derivation is made assuming, for axial load and flexure, the equivalent stress-block parameters for internal forces, considering the confinement effects induced in the concrete core by external cages both in the cases of strips or angles yielding. Limit states due to bond failure, concrete crushing and yielding of steel angles and strips in flexure and in shear, including moment-to-shear interaction, are considered. The proposed model gives results in a good agreement with available experimental data an…