Search results for "arki"
showing 10 items of 1015 documents
HyperLabelMe : A Web Platform for Benchmarking Remote-Sensing Image Classifiers
2017
HyperLabelMe is a web platform that allows the automatic benchmarking of remote-sensing image classifiers. To demonstrate this platform's attributes, we collected and harmonized a large data set of labeled multispectral and hyperspectral images with different numbers of classes, dimensionality, noise sources, and levels. The registered user can download training data pairs (spectra and land cover/use labels) and submit the predictions for unseen testing spectra. The system then evaluates the accuracy and robustness of the classifier, and it reports different scores as well as a ranked list of the best methods and users. The system is modular, scalable, and ever-growing in data sets and clas…
Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.
2012
Familial idiopathic basal ganglia calcification (IBGC) is a genetic condition with a wide spectrum of neuropsychiatric symptoms, including parkinsonism and dementia. Here, we identified mutations in SLC20A2, encoding the type III sodium-dependent phosphate transporter 2 (PiT2), in IBGC-affected families of varied ancestry, and we observed significantly impaired phosphate transport activity for all assayed PiT2 mutants in Xenopus laevis oocytes. Our results implicate altered phosphate homeostasis in the etiology of IBGC.
Factors influencing psychological well-being in patients with Parkinson's disease.
2017
Background Both motor and non-motor symptoms could contribute to significant deterioration of psychological well-being in patients with Parkinson's disease (PD). However, its assessment has been only indirectly evaluated using tools based on health-related quality of life (HRQoL), such as the PDQ-39 scale. Objectives To evaluate psychological well-being in PD using a specific tool of assessment, the Psychological Well-being Scale (PWS), and its clinical correlates. Methods This article reports data of patients' perception of health state, as measured by means of the PWS, from an epidemiological, cross-sectional study conducted in Italian PD patients (FORTE Study). We tested possible relatio…
Comparative Genomics of the RBR Family, Including the Parkinson's Disease–Related Gene Parkin and the Genes of the Ariadne Subfamily
2002
Genes of the RBR family are characterized by the RBR signature (two RING finger domains separated by an IBR/DRIL domain). The RBR family is widespread in eukaryotes, with numerous members in animals (mammals, Drosophila, Caenorhabditis) and plants (Arabidopsis). But yeasts, such as Saccharomyces cerevisiae or Schizosaccharomyces pombe, contain only two RBR genes. We determined the phylogenetic relationships and the most likely orthologs in different species of several family members for which functional data are available. These include: (1) parkin, whose mutations are involved in forms of familial Parkinson's disease; (2) the ariadne genes, recently characterized in Drosophila and mammals;…
Parkin and relatives: the RBR family of ubiquitin ligases
2004
Mutations in the parkin gene cause autosomal-recessive juvenile parkinsonism. Parkin encodes a ubiquitinprotein ligase characterized by having the RBR domain, composed of two RING fingers plus an IBR/DRIL domain. The RBR family is defined as the group of genes whose products contain an RBR domain. RBR family members exist in all eukaryotic species for which significant sequence data is available, including animals, plants, fungi, and several protists. The integration of comparative genomics with structural and functional data allows us to conclude that RBR proteins have multiple roles, not only in protein quality control mechanisms, but also as indirect regulators of transcription. A recent…
Impact of Parkinson's disease risk loci on age at onset
2015
Background The aim of this study was to assess whether recently identified Parkinson's disease (PD) risk genes also influence age at onset in PD. Methods We genotyped 23 single-nucleotide polymorphisms in 1,526 Danish PD patients and performed linear regression analyses with age at onset. The combined impact of PD risk loci on age at onset was assessed by linear regression analyses using a weighted genetic risk score. Results The strongest effects were observed with rs12726330 in GBA (beta = –3.63, P = 2.0 × 10−5) and rs34311866 in TMEM175/GAK (beta = –1.19, P = 4.0 × 10−3), corresponding to a 3.6-y and 1.2-y decrease of age at onset per risk allele, respectively. The weighted genetic risk …
Overexpression of Septin 4, the Drosophila homologue of human CDCrel-1, is toxic for dopaminergic neurons
2007
parkin loss-of-function mutations are linked to autosomal recessive juvenile parkinsonism. Parkin is an E3 ubiquitin ligase that promotes degradation of specific target proteins by the proteasome. It has been proposed that loss of Parkin activity will result in accumulation of its substrates, thus leading to dopaminergic (DA) neuron death. In Drosophila, parkin mutations cause degeneration of a subset of DA neurons in the brain but no Parkin substrates have yet been described. Here we characterized the septin 4 gene, which encodes the Drosophila orthologue of human CDCrel-1, a Parkin substrate. We showed that Septin 4 overexpression causes age-dependent disruption of DA neuron integrity in …
Towards the integration and development of a cross-European research network and infrastructure: the DEterminants of DIet and Physical ACtivity (DEDI…
2014
To address major societal challenges and enhance cooperation in research across Europe, the European Commission has initiated and facilitated ‘joint programming’. Joint programming is a process by which Member States engage in defining, developing and implementing a common strategic research agenda, based on a shared vision of how to address major societal challenges that no Member State is capable of resolving independently. Setting up a Joint Programming Initiative (JPI) should also contribute to avoiding unnecessary overlap and repetition of research, and enable and enhance the development and use of standardised research methods, procedures and data management. The Determinants of Diet …
Effects of sublethal exposure to lead on levels of energetic compounds in Procambarus clarkii (Girard, 1852).
1994
Lead is neither essential nor beneficial to living organisms; all existing data show that its metabolic effects are adverse. Lead is toxic to all phyla of aquatic biota. Most of the lead discharged into surface water is rapidly incorporated into suspended and bottom sediments. The American red crayfish, Procambarus clarkii, lives in a wide range of environmental conditions that include highly polluted waters. Lead present in take sediments can be available to aquatic animals such as P. clarkii because it is a detritivor and burrow into the sediment. In fact, we found remarkable levels of lead in tissues of P. clarkii caught in Albufera Lake and kept 15 days in clean water (e. g. 223 [mu]g/g…
Changes in biochemical composition of gills, hepatopancreas and muscle of the red crayfish Procambarus clarkii (Girard) after sublethal exposure to m…
1992
Abstract 1. 1. The changes in the biochemical composition of gills, hepatopancreas and muscle after exposure to 0.25 mg Hg/l were studied in Procambarus clarkii . 2. 2. Sublethal exposure to mercury in P. clarkii resulted in significant decreases in protein concentration and caloric concentration in gills over the 96 hr period. Glycogen/lipid and glycogen/protein ratios increased after 48 and 96 hr of mercury exposure. 3. 3. Lipid and caloric concentration in the hepatopancreas were significantly lower in 96 hr mercury exposed group. 4. 4. Glycogen concentration in muscle was depleted as consequence of 96 hr mercury exposure.