Using SPARQL – the practitioners’ viewpoint

A number of studies have analyzed SPARQL log data to draw conclusions about how SPARQL is being used. To complement this work, a survey of SPARQL users has been undertaken. Whilst confirming some of the conclusions of the previous studies, the current work is able to provide additional insight into how users create SPARQL queries, the difficulties they encounter, and the features they would like to see included in the language. Based on this insight, a number of recommendations are presented to the community. These relate to predicting and avoiding computationally expensive queries; extensions to the language; and extending the search paradigm

Innate immunity and neuroinflammation

Copyright © 2013 Abhishek Shastri et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.Inflammation of central nervous system (CNS) is usually associated with trauma and infection. Neuroinflammation occurs in close relation to trauma, infection, and neurodegenerative diseases. Low-level neuroinflammation is considered to have beneficial effects whereas chronic neuroinflammation can be harmful. Innate immune system consisting of pattern-recognition receptors, macrophages, and complement system plays a key role in CNS homeostasis following injury and infection. Here, we discuss how innate immune components can also contribute to neuroinflammation and neurodegeneration

Huntington's disease: An immune perspective

Copyright © 2011 Annapurna Nayaketal. This article has been made available through the Brunel Open Access Publishing Fund.Huntington's disease (HD) is a progressive neurodegenerative disorder that is caused by abnormal expansion of CAG trinucleotide repeats. Neuroinflammation is a typical feature of most neurodegenerative diseases that leads to an array of pathological changes within the affected areas in the brain. The neurodegeneration in HD is also caused by aberrant immune response in the presence of aggregated mutant huntingtin protein. The effects of immune activation in HD nervous system are a relatively unexplored area of research. This paper summarises immunological features associated with development and progression of HD.U. Kishore acknowledges funding via BRIEF and Brunel University’s strategic funding for the Centre of Infection, Immunity and Disease Mechanisms

Efficient XML Data Management: An Analysis

Abstract. With XML rapidly gaining popularity as the standard for data exchange on the World Wide Web, a variety of XML management systems (XMLMS) are becoming available. The choice of an XMLMS is made difficult by the significant difference in the expressive power of the queries and the performance shown by these XMLMS. Most XMLMS are legacy systems (mostly relational) extended to load, query, and publish data in XML format. A few are native XMLMS and capture all the char-acteristics of XML data representation. This paper looks at expressive power and efficiency of various XMLMS. The performance analysis relies on the testbed provided by XOO7, a benchmark derived from OO7 to capture both data and document characteristics of XML. We present ef-ficiency results for two native XMLMS, an XML-enabled semi-structured data management system and an XML-enabled RDBMS, which em-phasize the need for a delicate balance between the data-centric and document-centric aspects of XML query processing.

Distinct Mechanisms of Pathogenic DJ-1 Mutations in Mitochondrial Quality Control

The deglycase and chaperone protein DJ-1 is pivotal for cellular oxidative stress responses and mitochondrial quality control. Mutations in PARK7, encoding DJ-1, are associated with early-onset familial Parkinson’s disease and lead to pathological oxidative stress and/or disrupted protein degradation by the proteasome. The aim of this study was to gain insights into the pathogenic mechanisms of selected DJ-1 missense mutations, by characterizing protein–protein interactions, core parameters of mitochondrial function, quality control regulation via autophagy, and cellular death following dopamine accumulation. We report that the DJ-1M26I mutant influences DJ-1 interactions with SUMO-1, in turn enhancing removal of mitochondria and conferring increased cellular susceptibility to dopamine toxicity. By contrast, the DJ-1D149A mutant does not influence mitophagy, but instead impairs Ca2+ dynamics and free radical homeostasis by disrupting DJ-1 interactions with a mitochondrial accessory protein known as DJ-1-binding protein (DJBP/EFCAB6). Thus, individual DJ-1 mutations have different effects on mitochondrial function and quality control, implying mutation-specific pathomechanisms converging on impaired mitochondrial homeostasis

Innovation and development after the earthquake in Emilia

The 2012 earthquake in Emilia-Romagna (Italy) has shaken up the collective understanding on the socioeconomic importance of a vast territory that generates almost 2% of Italian GDP. The area affected by the earthquake is characterized by the presence of important industrial and agricultural districts, and by good practices of local governance that are internationally renowned. Private and public buildings, factories, offices and retail shops, historical and cultural heritage sites have been severely damaged. Not only, but it set in motion transformations in the socio-economic system that might have unexpected consequences and that undermine the quick recovery of the local system: different agents, at different levels, taking individual and collective decisions, generate a cascade of changes that interact with its evolution path. Indeed, earthquakes pose challenges, but provide unprecedented opportunities: strategic decisions by economic and political agents, newly available financial resources, coordination or lack of coordination among main stakeholders, and so on. The following paper provides an overview of the first results of Energie Sisma Emilia research project: it aims at collecting and disseminating relevant knowledge and evidence in order to design policies. In particular, it identifies the agents propelling innovation processes, and analyses their strategies in ever-changing environment. The paper starts with a socio-economic analysis of the area struck by the earthquake, followed by the results of three of the focus groups conducted. Eventually, it illustrates a specific innovation: the introduction and implementation of the digital infrastructure “Mude”

Loss of Nuclear Activity of the FBXO7 Protein in Patients with Parkinsonian-Pyramidal Syndrome (PARK15)

Mutations in the F-box only protein 7 gene (FBXO7) cause PARK15, an autosomal recessive neurodegenerative disease presenting with severe levodopa-responsive parkinsonism and pyramidal disturbances. Understanding the PARK15 pathogenesis might thus provide clues on the mechanisms of maintenance of brain dopaminergic neurons, the same which are lost in Parkinson's disease. The protein(s) encoded by FBXO7 remain very poorly characterized. Here, we show that two protein isoforms are expressed from the FBXO7 gene in normal human cells. The isoform 1 is more abundant, particularly in primary skin fibroblasts. Both isoforms are undetectable in cell lines from the PARK15 patient of an Italian family; the isoform 1 is undetectable and the isoform 2 is severely decreased in the patients from a Dutch PARK15 family. In human cell lines and mouse primary neurons, the endogenous or over-expressed, wild type FBXO7 isoform 1 displays mostly a diffuse nuclear localization. An intact N-terminus is needed for the nuclear FBXO7 localization, as N-terminal modification by PARK15-linked missense mutation, or N-terminus tag leads to cytoplasmic mislocalization. Furthermore, the N-terminus of wild type FBXO7 (but not of mutant FBXO7) is able to confer nuclear localization to profilin (a cytoplasmic protein). Our data also suggest that overexpressed mutant FBXO7 proteins (T22M, R378G and R498X) have decreased stability compared to their wild type counterpart. In human brain, FBXO7 immunoreactivity was highest in the nuclei of neurons throughout the cerebral cortex, intermediate in the globus pallidum and the substantia nigra, and lowest in the hippocampus and cerebellum. In conclusion, the common cellular abnormality found in the PARK15 patients from the Dutch and Italian families is the depletion of the FBXO7 isoform 1, which normally localizes in the cell nucleus. The activity of FBXO7 in the nucleus appears therefore crucial for the maintenance of brain neurons and the pathogenesis of PARK15

The brain is hypothermic in patients with mitochondrial diseases

We sought to study brain temperature in patients with mitochondrial diseases in different functional states compared with healthy participants. Brain temperature and mitochondrial function were monitored in the visual cortex and the centrum semiovale at rest and during and after visual stimulation in seven individuals with mitochondrial diseases (n=5 with mitochondrial DNA mutations and n=2 with nuclear DNA mutations) and in 14 age- and sex-matched healthy control participants using a combined approach of visual stimulation, proton magnetic resonance spectroscopy (MRS), and phosphorus MRS. Brain temperature in control participants exhibited small changes during visual stimulation and a consistent increase, together with an increase in high-energy phosphate content, after visual stimulation. Brain temperature was persistently lower in individuals with mitochondrial diseases than in healthy participants at rest, during activation, and during recovery, without significant changes from one state to another and with a decrease in the high-energy phosphate content. The lowest brain temperature was observed in the patient with the most deranged mitochondrial function. In patients with mitochondrial diseases, the brain is hypothermic because of malfunctioning oxidative phosphorylation. Neuronal activity is reduced at rest, during physiologic brain stimulation, and after stimulation. \ua9 2014 ISCBFM