1,229 research outputs found
Giulia Veronica Varisco
No full textThe headword explains the biography and the contribution of the author Giulia Varisco to the children's literatur
Meta-Analysis of Multiple Sclerosis Microarray Data Reveals Dysregulation in RNA Splicing Regulatory Genes
No full textAbnormalities in RNA metabolism and alternative splicing (AS) are emerging as important players in complex disease phenotypes. In particular, accumulating evidence suggests the existence of pathogenic links between multiple sclerosis (MS) and altered AS, including functional studies showing that an imbalance in alternatively-spliced isoforms may contribute to disease etiology. Here, we tested whether the altered expression of AS-related genes represents a MS-specific signature. A comprehensive comparative analysis of gene expression profiles of publicly-available microarray datasets (190 MS cases, 182 controls), followed by gene-ontology enrichment analysis, highlighted a significant enrichment for differentially-expressed genes involved in RNA metabolism/AS. In detail, a total of 17 genes were found to be differentially expressed in MS in multiple datasets, with CELF1 being dysregulated in five out of seven studies. We confirmed CELF1 downregulation in MS (p = 0.0015) by real-time RT-PCRs on RNA extracted from blood cells of 30 cases and 30 controls. As a proof of concept, we experimentally verified the unbalance in alternatively-spliced isoforms in MS of the NFAT5 gene, a putative CELF1 target. In conclusion, for the first time we provide evidence of a consistent dysregulation of splicing-related genes in MS and we discuss its possible implications in modulating specific AS events in MS susceptibility genes
GPTheatre Seen from the Stage: an (intra-human) dialogue with dramaturgs Giulia Asselta and Maddalena Mazzocut-Mis and director Paolo Bignamini
No full textThe interview presents the GPTheatre project “as seen from the stage”, through the experience of the theatre director and the dramaturgs who found themselves involved in this unusual experiment
GPTheatre Seen from the Stage: an (intra-human) dialogue with dramaturgs Giulia Asselta and Maddalena Mazzocut-Mis and director Paolo Bignamini
No full textThe interview presents the GPTheatre project “as seen from the stage”, through the experience of the theatre director and the dramaturgs who found themselves involved in this unusual experiment
Recombinant ceruloplasmin as a tool to study the prevalence of aceruloplasminemia in gnomAD
No full textACP results from mutations in the ceruloplasmin (CP) gene, which encodes the essential ferroxidase protein found in the plasma, leading to iron accumulation in organs and multisystemic phenotypic defects related to iron metabolism. However, there is currently a limited understanding of the epidemiology of ACP.
Large-scale genomic population datasets, such as the gnomAD database, provide a valuable resource for better defining the prevalence of rare diseases, such as ACP. Nonetheless, the correct classification of missense variants as pathogenic or benign remains challenging. To address this, we devised a rational workflow incorporating the functional analysis of recombinant CP (rCP) mutants to validate in silico structural analyses for predicting the pathogenicity of the mutants, with the ultimate goal of assessing the prevalence of ACP in a real-world data population.
Essential CP residues and ACP missense mutations were extracted from the public domain. CP missense variants found in gnomAD were filtered based on this selection of CP residues. New candidate pathogenic missense variants were identified and rationally prioritized for functional characterization. Systematic biochemical and functional analyses of representative missense variants revealed varying levels of functional impairment, with some showing no significant differences from the wild-type rCP, while others demonstrated complete loss of protein function, similar to previously identified ACP mutants. This knowledge, coupled with extensive in silico structural analysis predicting the destabilizing effects of potentially pathogenic missense mutations, allowed for an estimation of ACP prevalence in the general population, including loss-of-function mutations. The occurrence of ACP in the human population appears to be higher than previously estimated, with the presence of compound heterozygotes likely accounting for much of this increased prevalence. Given the possibility of developing a protein replacement therapy for ACP, these findings can improve the diagnosis of this condition and facilitate access to future disease-modifying treatments for patients with ACP who might otherwise remain undetected
Ytterbium Disilicate/Monosilicate Multilayer Environmental Barrier Coatings: Influence of Atmospheric Plasma Spray Parameters on Composition and Microstructure
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Ytterbium Disilicate/Monosilicate Multilayer Environmental Barrier Coatings: Influence of Atmospheric Plasma Spray Parameters on Composition and Microstructure
by Giulia Di Iorio,Laura Paglia *ORCID,Giulia PedrizzettiORCID,Virgilio GenovaORCID,Francesco MarraORCID,Cecilia BartuliORCID andGiovanni PulciORCID
INSTM Reference Laboratory for Materials and Surface Engineering, Sapienza University of Rome, Eudossiana 18, 00184 Rome, Italy
*
Author to whom correspondence should be addressed.
Coatings 2023, 13(9), 1602; https://doi.org/10.3390/coatings13091602
Original submission received: 10 August 2023 / Revised: 31 August 2023 / Accepted: 11 September 2023 / Published: 13 September 2023
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Abstract
SiC/SiC ceramic matrix composites (SiCf/SiC CMCs) are regarded as the new materials for the hot-section components of aircraft gas turbine engines, since they have one-third of the density of metallic superalloys, a higher temperature capability, good mechanical strength, and excellent thermal shock resistance. However, high-temperature water-vapor-rich combustion gases can induce severe surface recession phenomena in SiC/SiC leading to component failure. For this reason, it is necessary to design protective coatings, i.e., environmental barrier coatings (EBCs), able to protect the SiC/SiC surface in combustion environments. In the present work, ytterbium monosilicate (Yb2SiO5), stable when exposed to water vapor at high temperatures, and ytterbium disilicate (Yb2Si2O7), characterized by a thermal expansion coefficient closer to that of the substrate, were selected for a multilayer EBC system. EBCs were processed using the atmospheric plasma spray (APS) technique. A set of deposition parameters were tested, varying the power of the torch, and the composition and microstructure of the deposited coatings were studied in terms of porosity, crack density, and post-deposition phase retention by performing SEM, EDS, and XRD analysis. The results allow for the definition of the influence of deposition parameters on the final properties of multilayer EBC coatings
Correction to: Safety and Psychological Outcomes of Tandem t:Slim X2 Insulin Pump with Control-IQ Technology in Children, Adolescents, and Young Adults with Type 1 Diabetes: A Systematic Review
No full textThe second author name was incorrectly published as Giula Maria Smylie. The correct name is Giulia Marie Smylie. The original article has been corrected
A lysosome-plasma membrane-sphingolipid axis linking lysosomal storage to cell growth arrest
No full textLysosomal accumulation of undegraded materials is a common feature of lysosomal storage diseases, neurodegenerative disorders, and the aging process. To better understand the role of lysosomal storage in the onset of cell damage, we used human fibroblasts loaded with sucrose as a model of lysosomal accumulation. Sucrose-loaded fibroblasts displayed increased lysosomal biogenesis followed by arrested cell proliferation. Notably, we found that reduced lysosomal catabolism and autophagy impairment led to an increase in sphingolipids ( i.e., sphingomyelin, glucosylceramide, ceramide, and the gangliosides GM3 and GD3), at both intracellular and plasma membrane (PM) levels. In addition, we observed an increase in the lysosomal membrane protein Lamp-1 on the PM of sucrose-loaded fibroblasts and a greater release of the soluble lysosomal protein cathepsin D in their extracellular medium compared with controls. These results indicate increased fusion between lysosomes and the PM, as also suggested by the increased activity of lysosomal glycosphingolipid hydrolases on the PM of sucrose-loaded fibroblasts. The inhibition of β-glucocerebrosidase and nonlysosomal glucosylceramidase, both involved in ceramide production resulting from glycosphingolipid catabolism on the PM, partially restored cell proliferation. Our findings indicate the existence of a new molecular mechanism underlying cell damage triggered by lysosomal impairment.- Samarani, M., Loberto, N., Soldà, G., Straniero, L., Asselta, R., Duga, S., Lunghi, G., Zucca, F. A., Mauri, L., Ciampa, M. G., Schiumarini, D., Bassi, R., Giussani, P., Chiricozzi, E., Prinetti, A., Aureli, M., Sonnino, S. A lysosome-plasma membrane-sphingolipid axis linking lysosomal storage to cell growth arrest
Scrivere senza anestesia. La chiarezza di Giulia Niccolai
No full textIl saggio colloca storicamente la narratrice e poetessa Giulia Niccolai nel canone del Novecento letterario italiano discutendone poetica e cifre stilistiche. L'ampia analisi proposta tocca tutte le opere dell'autrice evidenziandone i legami intertestuali, anche tra poesia e narrativa, e i progressivi sviluppi in un arco cronologico esteso, tra anni Sessanta e primi anni Duemila. Lo studio coglie anche l'importanza dei riferimenti alle arti visive, in particolare alla fotografia, che Giulia Niccolai ha praticato in prima persona negli anni della Neoavanguardia, e alla pittura americana.The essay places the narrator and poet Giulia Niccolai in the canonical twentieth century Italian literary discussing her poetics and stylistic figures. The wide analysis proposed touches all the works of the author highlighting the intertextual links, also between poetry and narrative, and the progressive developments in an extended chronological period, between the Sixties and early Twenties. The study also captures the importance of references to the visual arts, especially photography, which Giulia Niccolai has practiced in the years of the Neo-avant-garde, and to American painting
Role of Cytoskeletal Diaphanous-Related Formins in Hearing Loss
No full textHearing relies on the proper functioning of auditory hair cells and on actin-based cytoskeletal structures. Diaphanous-related formins (DRFs) are evolutionarily conserved cytoskeletal proteins that regulate the nucleation of linear unbranched actin filaments. They play key roles during metazoan development, and they seem particularly pivotal for the correct physiology of the reproductive and auditory systems. Indeed, in Drosophila melanogaster, a single diaphanous (dia) gene is present, and mutants show sterility and impaired response to sound. Vertebrates, instead, have three orthologs of the diaphanous gene: DIAPH1, DIAPH2, and DIAPH3. In humans, defects in DIAPH1 and DIAPH3 have been associated with different types of hearing loss. In particular, heterozygous mutations in DIAPH1 are responsible for autosomal dominant deafness with or without thrombocytopenia (DFNA1, MIM #124900), whereas regulatory mutations inducing the overexpression of DIAPH3 cause autosomal dominant auditory neuropathy 1 (AUNA1, MIM #609129). Here, we provide an overview of the expression and function of DRFs in normal hearing and deafness
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