Search results for "DISORDERS"
showing 10 items of 4560 documents
Phosphorylation of the Usher syndrome 1G protein SANS controls Magi2-mediated endocytosis.
2014
Item does not contain fulltext The human Usher syndrome (USH) is a complex ciliopathy with at least 12 chromosomal loci assigned to three clinical subtypes, USH1-3. The heterogeneous USH proteins are organized into protein networks. Here, we identified Magi2 (membrane-associated guanylate kinase inverted-2) as a new component of the USH protein interactome, binding to the multifunctional scaffold protein SANS (USH1G). We showed that the SANS-Magi2 complex assembly is regulated by the phosphorylation of an internal PDZ-binding motif in the sterile alpha motif domain of SANS by the protein kinase CK2. We affirmed Magi2's role in receptor-mediated, clathrin-dependent endocytosis and showed tha…
Targeting Homer genes using adeno-associated viral vector: lessons learned from behavioural and neurochemical studies.
2008
Over a decade of in-vitro data support a critical role for members of the Homer family of postsynaptic scaffolding proteins in regulating the functional architecture of glutamate synapses. Earlier studies of Homer knockout mice indicated a necessary role for Homer gene products in normal mesocorticolimbic glutamate transmission and behaviours associated therewith. The advent of adeno-associated viral vectors carrying cDNA for, or short hairpin RNA against, specific Homer isoforms enabled the site-directed targeting of Homers to neurons in the brain. This approach has allowed our groups to address developmental issues associated with conventional knockout mice, to confirm active roles for di…
Direct interaction of the Usher syndrome 1G protein SANS and myomegalin in the retina
2011
Contains fulltext : 96822.pdf (Publisher’s version ) (Closed access) The human Usher syndrome (USH) is the most frequent cause of combined hereditary deaf-blindness. USH is genetically heterogeneous with at least 11 chromosomal loci assigned to 3 clinical types, USH1-3. We have previously demonstrated that all USH1 and 2 proteins in the eye and the inner ear are organized into protein networks by scaffold proteins. This has contributed essentially to our current understanding of the function of USH proteins and explains why defects in proteins of different families cause very similar phenotypes. We have previously shown that the USH1G protein SANS (scaffold protein containing ankyrin repeat…
MPP1 links the Usher protein network and the Crumbs protein complex in the retina.
2007
Contains fulltext : 53571.pdf (Publisher’s version ) (Closed access) The highly ordered distribution of neurons is an essential feature of a functional mammalian retina. Disruptions in the apico-basal polarity complexes at the outer limiting membrane (OLM) of the retina are associated with retinal patterning defects in vertebrates. We have analyzed the binding repertoire of MPP5/Pals1, a key member of the apico-basal Crumbs polarity complex, that has functionally conserved counterparts in zebrafish (nagie oko) and Drosophila (Stardust). We show that MPP5 interacts with its MAGUK family member MPP1/p55 at the OLM. Mechanistically, this interaction involves heterodimerization of both MAGUK mo…
Microstructural modifications resulting from the dehydration of gypsum
2001
Various faces of dehydrated gypsum-cleaved blocks and single crystals have been investigated using optical microscopy, SEM, and TEM. The orientation of the cracks with respect to the initial gypsum structure and the Miller indices of all possible crack planes have been determined. These crack planes have been found to be few and to correspond to planes of high atomic density in the initial and final structures, therefore characterised by a low surface tension. These observations allow us to propose cracking criteria based on general concepts of crystal growth. The cracks' dimensions measured on different faces of the pseudomorph are distributed over several orders of magnitude and seems to …
1st International Experts' Meeting on Agitation: Conclusions Regarding the Current and Ideal Management Paradigm of Agitation
2018
Este artículo se encuentra disponible en la página web de la revista en la siguiente URL: https://www.frontiersin.org/articles/10.3389/fpsyt.2018.00054/full En este artículo científico participan los siguientes autores: Mario Amore, Guido Di Sciascio, Radu Ioan Florea, Marina Garriga, Gabriel Gonzalez, Kai G. Kahl, Per-Axel Karlsson, Jens Kuhn, Maria Margariti, Bruno Pacciardi, Konstantinos Papageorgiou, Maurizio Pompili, Fabrice Rivollier, Ángel Royuela, Gemma Safont, Joachim Scharfetter, Bo Skagen, Kazuhiro Tajima-Pozo y Pierre Vidailhet. Agitation is a heterogeneous concept without a uniformly accepted definition, however, it is generally considered as a state of cognitive and motor hype…
Genetic and psychosocial stressors have independent effects on the level of subclinical psychosis: findings from the multinational EU-GEI study.
2022
the Spanish Ministry of Science and Innovation. Instituto de Salud Carlos III (SAM16PE07CP1, PI16/02012, PI19/024), co-financed by ERDF Funds from the European Commission, ‘A way of making Europe’, CIBERSAM. Madrid Regional Government (B2017/BMD-3740 AGES-CM-2), European Union Structural Funds. European Union Seventh Framework Program under grant agreements FP7-4-HEALTH-2009-2.2.1-2-241909 (Project EU-GEI) and FP7-HEALTH-2013-2.2.1-2-603196 (Project PSYSCAN); and European Union H2020 Program under the Innovative Medicines Initiative 2 Joint Undertaking (grant agreement No 115916, Project PRISM, and grant agreement No 777394, Project AIMS-2-TRIALS) (...)
The Impact of Inattention, Hyperactivity/Impulsivity Symptoms, and Executive Functions on Learning Behaviors of Children with ADHD
2017
Children diagnosed with attention deficit/hyperactivity disorder (ADHD) are at risk of experiencing lower academic achievement compared to their peers without ADHD. However, we have a limited understanding of the mechanisms underlying this association. Both the symptoms of the disorder and the executive functions can negatively influence learning behaviors, including motivation, attitude toward learning, or persistence, key aspects of the learning process. The first objective of this study was to compare different components of learning behaviors in children diagnosed with ADHD and typically developing (TD) children. The second objective was to analyze the relationships among learning behav…
Evaluation of the behavioral and affective outcomes of novice teachers working in professional development schools versus non-professional developmen…
2018
Abstract The purpose of this study was to evaluate the outcomes of teacher preparation based in Professional Development Schools (PDSs) in secondary education in The Netherlands over a period of three years. Approximately 150 teachers in non-PDSs were compared with 50 teachers in PDSs with declining response rates. Classroom observation ratings and student perceptions of PDS teachers in the second year were higher compared to non-PDS teachers. PDS teachers reported higher levels of teacher efficacy in each year. PDS-based teachers evaluated their teacher preparation and their learning opportunities significantly more positively compared to non-PDS-based teachers. Even though the sample size…
Food selectivity in autism spectrum disorders: a systematic review.
2013
Autism spectrum disorders are characterized by difficulties with reciprocal social interactions and restricted patterns of behavior and interest; one of these characteristic behaviors is food selectivity. The objective of this study was to perform a systematic review of the literature published between 1970 and 2013 concerning this eating behavior. The articles identified were analyzed in terms of sample size, study design, and criteria for assessment and intervention, as well as the results, level of evidence and grade of recommendation. The main search was conducted in Medline, Cochrane Library, Scielo, ScienceDirect, and Embase). There is empirical evidence and an overall scientific con…