A5012864812- RNA and protein synthesis mechanisms
- Genomics and Chromatin Dynamics
- Epigenetics and DNA Methylation
- Developmental Biology and Gene Regulation
- Cystic Fibrosis Research Advances
- CRISPR and Genetic Engineering
- RNA regulation and disease
- Cancer-related gene regulation
- Advanced biosensing and bioanalysis techniques
- Effects and risks of endocrine disrupting chemicals
- RNA modifications and cancer
- Bacterial Genetics and Biotechnology
- Marine Biology and Environmental Chemistry
- RNA Research and Splicing
- RNA Interference and Gene Delivery
- Marine Ecology and Invasive Species
- Invertebrate Immune Response Mechanisms
- Plant Molecular Biology Research
- Turtle Biology and Conservation
- Identification and Quantification in Food
- Environmental DNA in Biodiversity Studies
- Computational Drug Discovery Methods
- Click Chemistry and Applications
- Toxic Organic Pollutants Impact
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
University of Palermo
2015-2025
University of Geneva
2001-2003
Two distinct types of Polycomb complexes have been identified in flies and vertebrates, one containing ESC PC. Using LexA fusions, we show that PC can establish silencing a reporter gene but each requires the presence other. In early embryonic extracts, find transiently associated with complex includes EZ, PHO, PH, GAGA, RPD3 not PSC. older embryos, is found including PSC, RPD3, whereas separate RPD3.
The presence in the mRNA of premature stop codons (PTCs) results protein truncation responsible for several inherited (genetic) diseases. A well-known example these diseases is cystic fibrosis (CF), where approximately 10% (worldwide) patients have nonsense mutations CF transmembrane regulator (CFTR) gene. PTC124 (3-(5-(2-fluorophenyl)-1,2,4-oxadiazol-3-yl)-benzoic acid), also known as Ataluren, a small molecule that has been suggested to allow PTC readthrough even though its target yet be...
Nonsense mutations in the CFTR gene are responsible for approximately 8 % of cystic fibrosis (CF) cases worldwide. The consequent premature termination translation leads to production a truncated and non-functional protein. Despite intensive research field, these patients cannot benefit from specific approved therapies yet. To address this issue, study we evaluated potential therapeutic strategy overcome nonsense G542X (UGG > UGA) mutation CFF-16HBEge human bronchial epithelial cells by...
Primary Immunodeficiency Diseases (PIDs) are associated with multiple genetic alterations including mutations of the LPS responsive Beige anchor (LRBA) gene. Nonsense in LRBA gene resulting premature termination codons cause loss protein expression PID. We evaluated impact a translational readthrough-inducing drug (TRID) ataluren as nonsense suppression therapy PID patient homozygous stop codon mutation exon 30 LRBA. A precision medicine approach allowed us to pass from "in silico" vitro"...
In this study we compared the heavy metal concentration found in different tissues and eggs of loggerhead sea turtle evaluated potential ecotoxicological risk for important species. Eighteen elements were determined (liver, gonads, fat, kidney, heart, brain, spleen) nine individuals Caretta caretta stranded along coasts Messina (Sicily, Italy) shell yolk six from island Linosa Italy). For analysis metals, used analytical procedures accordance with EPA 200.8 method supplemented by 6020b three...
ABSTRACT Several homeobox genes are expressed in the sea urchin embryo but their roles development have yet to be elucidated. Of particular interest homologues of that mouse and Drosophila involved patterning developing central nervous system (CNS). Here, we report cloning an orthopedia (Otp)-related gene from Paracentrotus lividus, PlOtp. Otp is a single copy zygotic presents unique highly restricted expression pattern. Transcripts were first detected at mid-gastrula stage two pairs oral...
Abstract The first determination of presence and biodistribution PFOA in ninety specimens sea urchin Paracentrotus lividus from two differently contaminated sites along Palermo’s coastline (Sicily) is reported. Analyses were performed on the urchins’ coelomic fluids, coelomocytes, gonads or mixed organs, as well seawater Posidonia oceanica leaves samples collection sites. concentration ranged between 1 13 ng/L 0 794 ng/g P. . analyses carried out individuals least polluted site (A) showed...
Abstract Perfluorooctanoic acid (PFOA) has been largely used in the manufacturing industry but a few years ago it turned out to be dangerous pollutant which is now of concern for terrestrial and aquatic environments. Here, we investigated bioaccumulation PFOA sea urchin Paracentrotus lividus after exposure different concentrations 28 days. We observed rapid uptake coelomic fluid collected weekly during period high gonads at end experiment. Interestingly, animals were also able fast depurate...
Cystic Fibrosis (CF) is an autosomal recessive genetic disease caused by mutations in the CFTR gene, coding for chloride channel. About 10% of gene are “stop” that generate a premature termination codon (PTC), thus synthesizing truncated protein. A way to bypass PTC relies on ribosome readthrough, which ribosome’s capacity skip PTC, generating full-length “TRIDs” molecules exerting readthrough; some, mechanism action still under debate. We investigate possible (MOA) our recently synthesized...
The readthrough of nonsense mutations by small molecules like Ataluren is considered a novel therapeutic approach to overcome the gene defect in several genetic diseases as cystic fibrosis (CF). This pharmacological suppresses translation termination at premature codons (PTCs readthrough) thus restoring expression functional protein. However, might be limited nonsense-mediated mRNA decay (NMD), cell process that reduces amount/level PTCs containing mRNAs. Here we investigate combined action...
In the sea urchin embryo, lineage founder cells whose polyclonal progenies will give rise to five different territories are segregated at sixth division. To investigate mechanisms by which fates of embryonic first established, we looked for temporal and spatial expression homeobox genes in very early cleavage embryos. We report evidence that PlHbox12, a paired homeobox-containing gene, is expressed embryo from 4-cell stage. The abundance transcripts reaches its maximum when has been divided...
Chromatin insulators are eukaryotic genome elements that upon binding of specific proteins display barrier and/or enhancer-blocking activity. Although several have been described throughout various metazoans, much less is known about mediate their functions. This article deals with the identification and functional characterization in Paracentrotus lividus COMPASS-like (CMPl), a novel echinoderm insulator protein. Phylogenetic analysis shows CMPl factor, encoded by alternative spliced...
The first record of the red swamp crayfish in Sicily dates back to 2003 and, since then, species seemed be confined a few localities western Sicily. A small "citizen science" project carried out from November 2016 onwards led creation "Sicilian Procambarus working group" (SPwg), which aims at monitoring distribution and impact To date, SPwg found five new sites on island, thus doubling number local occurrence. clarkii lie different river basins, some them located several hundred kilometres...
Cystic fibrosis (CF) patients develop a severe form of the disease when cystic transmembrane conductance regulator (CFTR) gene is affected by nonsense mutations. Nonsense mutations are responsible for presence premature termination codon (PTC) in mRNA, creating lack functional protein. In this context, translational readthrough-inducing drugs (TRIDs) represent promising approach to correct basic defect caused PTCs. By using computational optimization and biological screening, we identified...
The bioaccumulation of phthalates was studied in fragments Ulva lactuca exposed for a maximum 31 days at different concentrations solution six phthalic acid esters (PAEs). algal matrix showed rapid uptake since the first sampling, which increased over time experimental period, end seaweed's potential also evaluated. After uptake, subjected to UV irradiation order verify removal phthalates. PAEs with higher octanol-water partition coefficients (logKow) and molecular weights were...
Stop mutations cause 11% of the genetic diseases, due to introduction a premature termination codon (PTC) in mRNA, followed by production truncated protein. A promising therapeutic approach is suppression therapy Translational Readthrough Inducing Drugs (TRIDs), restoring expression Recently, three new TRIDs (NV848, NV914, NV930) have been proposed, and validated several vitro assays, for rescue CFTR protein, involved Cystic Fibrosis disease. In this work, an acute toxicological study was...
The sea urchin early histone repeating unit contains one copy of each the five genes whose coordinate expression during development is regulated by gene-specific elements. To learn how within a activator can be prevented to communicate with heterologous promoters, we searched for domain boundaries using enhancer blocking assay. We focused on region near 3′ end H2A gene where stage-specific nuclease cleavage sites appear upon silencing genes. demonstrated that DNA fragment 265 bp in length,...
It is reported that about 10% of cystic fibrosis (CF) patients worldwide have nonsense (stop) mutations in the CFTR gene, which cause premature termination protein synthesis, leading to a truncated and non-functional protein. To address this issue, we investigated possibility rescuing mutation (UGA) by sequence-specific RNA editing mutant CFF-16HBEge, W1282X, G542X human bronchial cells. We used two different base editor tools take advantage ADAR enzymes (adenosine deaminase acting on RNA)...