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Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy
Get PDFCellular distribution and dynamics of mitochondria are regulated by several motor proteins and a microtubule network. In neurons, mitochondrial trafficking is crucial because of high energy needs and calcium ion buffering along axons to synapses during neurotransmission. The trafficking kinesin proteins (TRAKs) are well characterized for their role in lysosomal and mitochondrial trafficking in cells, especially neurons. Using whole exome sequencing, we identified homozygous truncating variants in TRAK1 (NM_001042646:c.287-2A > C), in six lethal encephalopathic patients from three unrelated families. The pathogenic variant results in aberrant splicing and significantly reduced gene expression at the RNA and protein levels. In comparison with normal cells, TRAK1-deficient fibroblasts showed irregular mitochondrial distribution, altered mitochondrial motility, reduced mitochondrial membrane potential, and diminished mitochondrial respiration. This study confirms the role of TRAK1 in mitochondrial dynamics and constitutes the first report of this gene in association with a severe neurodevelopmental disorder
La reparación en la interacción oral de estudiantes de ELE: comparación entre interacciones de práctica en el aula e interacciones en contextos de evaluación
Get PDFBased on the concept of interactional competence (Hellermann, 2008;
Seedhouse, 2004; Walsh, 2011; Young, 2008), our study analyzes how learners of
Spanish as a foreign language in a B2 level manage repair in oral interaction in
language classrooms. We understand repair as “the treatment of trouble in talk-ininteraction”
(Young, 2008, p. 49). A corpus of eleven interactions between students
in the classroom is analyzed through the perspective of Conversation
Analysis. The interactions were collected in different kinds of tasks in the language
classroom. In our analysis we compare interactions produced in practice
activities and interactions collected during assessment. The findings in this study
show a tendency to manage repair in classroom oral interaction as it would be
done in normal conversation. Regarding the different contexts of our corpus, we
observe that, in interactions produced in assessment contexts, speakers try to
protect their interlocutor’s face and their own face by avoiding to make repairs
Disaster management system as an element of risk management for natural disaster systems using the PESTLE framework
No full textRecently, we have witnessed so many natural catastrophes such as earthquakes in Japan, severe floods in the UK, US and many other parts of the world. Consequently businesses have been losing tens of billions of dollars as a result of various natural and man-made disasters. Disaster Management System (DMS) have proven to be important means for reducing risks associated with such damages to businesses. A DMS can minimize and in some cases, eliminates the risks through technical, management or operational solutions (risk management effort). However, it is virtually impossible to eliminate all risks. Information technology systems are vulnerable for a variety of disruptions (e.g. short-term power outage, disk drive failure) as a result of natural disasters to terrorist actions. In many cases, critical resources may reside outside the organizations control (such as telecommunications or electric power), and the organization may be unable to ensure their availability. This paper proposes a model for Disaster Management System as an Element of Risk Management using the PESTLE framework. Thus, an effective Disaster Management System in the form of contingency planning, execution and testing are essential to mitigate the risk of system and service availability. We have developed a global model for disaster recover planning and management based on the PESTLE framework which can be customised and applied to a variety of disasters prone systems such natural, emergency, IT/Network/Security, Data recovery, and incident-response systems. To summarise, this paper aims to maximise the benefits of PESTLE analysis it should be used on a regular basis within an organisation to enable the identification of trends
The potential of manganese nitride based materials as nitrogen transfer reagents for nitrogen chemical looping
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Inferring monopartite projections of bipartite networks: an entropy-based approach
Get PDFBipartite networks are currently regarded as providing a major insight into the organization of many real-world systems, unveiling the mechanisms driving the interactions occurring between distinct groups of nodes. One of the most important issues encountered when modeling bipartite networks is devising a way to obtain a (monopartite) projection on the layer of interest, which preserves as much as possible the information encoded into the original bipartite structure. In the present paper we propose an algorithm to obtain statistically-validated projections of bipartite networks, according to which any two nodes sharing a statistically-significant number of neighbors are linked. Since assessing the statistical significance of nodes similarity requires a proper statistical benchmark, here we consider a set of four null models, defined within the exponential random graph framework. Our algorithm outputs a matrix of link-specific p-values, from which a validated projection is straightforwardly obtainable, upon running a multiple hypothesis testing procedure. Finally, we test our method on an economic network (i.e. the countries-products World Trade Web representation) and a social network (i.e. MovieLens, collecting the users' ratings of a list of movies). In both cases non-trivial communities are detected: while projecting the World Trade Web on the countries layer reveals modules of similarly-industrialized nations, projecting it on the products layer allows communities characterized by an increasing level of complexity to be detected; in the second case, projecting MovieLens on the films layer allows clusters of movies whose affinity cannot be fully accounted for by genre similarity to be individuated