Search results for " Inclusion"
showing 10 items of 339 documents
Loss of ISWI Function in Drosophila Nuclear Bodies Drives Cytoplasmic Redistribution of Drosophila TDP-43
2018
Over the past decade, evidence has identified a link between protein aggregation, RNA biology, and a subset of degenerative diseases. An important feature of these disorders is the cytoplasmic or nuclear aggregation of RNA-binding proteins (RBPs). Redistribution of RBPs, such as the human TAR DNA-binding 43 protein (TDP-43) from the nucleus to cytoplasmic inclusions is a pathological feature of several diseases. Indeed, sporadic and familial forms of amyotrophic lateral sclerosis (ALS) and fronto-temporal lobar degeneration share as hallmarks ubiquitin-positive inclusions. Recently, the wide spectrum of neurodegenerative diseases characterized by RBPs functions’ alteration and loss was coll…
Aging-associated genes and let-7 microRNAs: a contribution to myogenic program dysregulation in oculopharyngeal muscular dystrophy
2019
Oculopharyngeal muscular dystrophy (OPMD) is a late-onset muscle disease caused by an abnormal (GCN) triplet expansion within the polyadenylate-binding protein nuclear 1 gene and consequent mRNA pr...
Substantial deficiency of free sialic acid in muscles of patients with GNE myopathy and in a mouse model
2017
GNE myopathy (GNEM), also known as hereditary inclusion body myopathy (HIBM), is a late- onset, progressive myopathy caused by mutations in the GNE gene encoding the enzyme responsible for the first regulated step in the biosynthesis of sialic acid (SA). The disease is characterized by distal muscle weakness in both the lower and upper extremities, with the quadriceps muscle relatively spared until the late stages of disease. To explore the role of SA synthesis in the disease, we conducted a comprehensive and systematic analysis of both free and total SA levels in a large cohort of GNEM patients and a mouse model. A sensitive LC/MS/MS assay was developed to quantify SA in serum and muscle h…
Aerobic growth of Rhodococcus aetherivorans BCP1 using selected naphthenic acids as the sole carbon and energy sources
2018
Naphthenic acids (NAs) are an important group of toxic organic compounds naturally occurring in hydrocarbon deposits. This work shows that Rhodococcus aetherivorans BCP1 cells not only utilize a mixture of eight different NAs (8XNAs) for growth but they are also capable of marked degradation of two model NAs, cyclohexanecarboxylic acid (CHCA) and cyclopentanecarboxylic acid (CPCA) when supplied at concentrations from 50 to 500 mgL−1 . The growth curves of BCP1 on 8XNAs, CHCA, and CPCA showed an initial lag phase not present in growth on glucose, which presumably was related to the toxic effects of NAs on the cell membrane permeability. BCP1 cell adaptation responses that allowed survi…
Myelin changes in Alexander disease
2018
Introduction: Alexander disease (AxD) is a type of leukodystrophy. Its pathological basis, along with myelin loss, is the appearance of Rosenthal bodies, which are cytoplasmic inclusions in astrocytes. Mutations in the gene coding for glial fibrillary acidic protein (GFAP) have been identified as a genetic basis for AxD. However, the mechanism by which these variants produce the disease is not understood. Development: The most widespread hypothesis is that AxD develops when a gain-of-function mutation causes an increase in GFAP. However, this mechanism does not explain myelin loss, given that experimental models in which GFAP expression is normal or mutated do not exhibit myelin disorders. …
Nuclear inclusions of pathogenic ataxin-1 induce oxidative stress and perturb the protein synthesis machinery
2020
Spinocerebellar ataxia type-1 (SCA1) is caused by an abnormally expanded polyglutamine (polyQ) tract in ataxin-1. These expansions are responsible for protein misfolding and self-assembly into intranuclear inclusion bodies (IIBs) that are somehow linked to neuronal death. However, owing to lack of a suitable cellular model, the downstream consequences of IIB formation are yet to be resolved. Here, we describe a nuclear protein aggregation model of pathogenic human ataxin-1 and characterize IIB effects. Using an inducible Sleeping Beauty transposon system, we overexpressed the ATXN1(Q82) gene in human mesenchymal stem cells that are resistant to the early cytotoxic effects caused by the expr…
Internet and People with Intellectual Disability: A Bibliometric Analysis
2020
The use of the Internet by people with intellectual disabilities is an area of study that has captured the interest of scientists in recent years. The studies have focused on analyzing specific aspects such as usability, the activities carried out online, and Internet benefits and risks, among others. The reviews published on this matter have been of a narrative or systematic approach. The present study aimed to examine the academic output in the field of Internet and people with intellectual disability from a bibliometric perspective. A sample of 95 documents related to the topic was retrieved from the core collection of Web of Science (WoS) and analyzed using the bibliometrix R-Tool. Find…
The Development and Initial Validation of a Short, Self-Report Measure on Social Inclusion for People with Intellectual Disabilities-A Transnational …
2021
Sport has been promoted as a means of increasing the social inclusion of persons with intellectual disabilities. Suitable tools for evaluating this claim are not readily available. The aim of this study was to develop a self-report tool for use by people with intellectual disabilities regarding the social inclusion they experience in sport and in the community. A three-phase process was used. In the first phase an item bank of questionnaire items was created and field-tested with 111 participants. Initial factor analysis identified 42 items which were further evaluated in Phase 2 with 941 participants from six European countries. Construct validity was established first through Exploratory …
Digital Competence for the improvement of Special Education Teaching
2016
The increasing digitization and globalization of the media, the broad diversification of media products, with the value-and ethical issues that it raises, proposes and confirms the reasons why media education is to be considered as an indispensable task for anyone involved in education. Thanks to specific educational interventions and appropriate evaluation tools for self-assessment, future educators should be helped to acquire the appropriate media skills necessary to develop the capacity to responsibly and autonomously choose proper media to design their media education courses. The media competence enhances teachers’ ability to creatively modify learning spaces and to design a variety of…
„Wir wussten, dass es schwierig wird, doch damit haben wir nicht gerechnet!“ Erfahrungen beim Studieneinschluss von Krebspatient*innen mit Migrations…
2021
Zusammenfassung Hintergrund Der Prozess des Studieneinschlusses von Teilnehmenden ist ein wichtiger Bestandteil und oftmals aufwendiger Arbeitsschritt in wissenschaftlichen Forschungsprojekten. Aufgrund unterschiedlicher finanzieller, organisatorischer und ethischer Rahmenbedingungen stellt die fristgerechte Gewinnung von Teilnehmenden haufig eine Herausforderung dar. In diesem Beitrag berichten wir uber unsere Erfahrungen hinsichtlich des Studieneinschlusses, die wir im Projekt „Psychoonkologische Versorgung von Krebspatienten mit Migrationshintergrund – eine Mixed-Methods-Studie“ (POM) gemacht haben. Methode Die Gewinnung von Teilnehmenden erfolgte uber ambulante hamato-onkologische Schwe…