Search Results - "Del Giudice, Elda"

Evaluating the contribution of the gene TARDBP in Italian patients with amyotrophic lateral sclerosis by Lattante, Serena, Sabatelli, Mario, Bisogni, Giulia, Marangi, Giuseppe, Doronzio, Paolo Niccolò, Martello, Francesco, Renzi, Anna Gloria, Del Giudice, Elda, Leon, Alberta, Cimbolli, Paola, Marchione, Daniela, Costantino, Umberto, Lucioli, Gabriele, Bernardo, Daniela, Meleo, Emiliana, Patanella, Agata Katia, Romano, Angela, Zollino, Marcella, Conte, Amelia

“…Background and objectives Genetic variants in the gene TARDBP, encoding TDP‐43 protein, are associated with amyotrophic lateral sclerosis (ALS) in familial…”
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Are CSNK2A1 gene mutations associated with retinal dystrophy? Report of a patient carrier of a novel de novo splice site mutation by Colavito, Davide, Del Giudice, Elda, Ceccato, Chiara, Dalle Carbonare, Maurizio, Leon, Alberta, Suppiej, Agnese

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Cannabidiol, unlike synthetic cannabinoids, triggers activation of RBL-2H3 mast cells by Giudice, Elda Del, Rinaldi, Luciano, Passarotto, Marzia, Facchinetti, Fabrizio, D’Arrigo, Antonello, Guiotto, Adriano, Carbonare, Maurizio Dalle, Battistin, Leontino, Leon, Alberta

“…Cannabidiol (CBD), a prominent psychoinactive component of cannabis with negligible affinity for known cannabinoid receptors, exerts numerous pharmacological…”
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A novel compound heterozygous mutation in GALC associated with adult-onset Krabbe disease: case report and literature review by Iacono, Salvatore, Del Giudice, Elda, Leon, Alberta, La Bella, Vincenzo, Spataro, Rossella

“…Krabbe disease (KD) is a rare autosomal recessive lipid storage leukodystrophy. It is caused by deficient enzyme activity resulting from mutations of the…”
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In Vitro Antitumor Activity of the Water Soluble Copper(I) Complexes Bearing the Tris(hydroxymethyl)phosphine Ligand by Marzano, Cristina, Gandin, Valentina, Pellei, Maura, Colavito, Davide, Papini, Grazia, Lobbia, Giancarlo Gioia, Del Giudice, Elda, Porchia, Marina, Tisato, Francesco, Santini, Carlo

“…Monocationic hydrophilic complexes [Cu(thp)4]+ 3 and [Cu(bhpe)2]+ 4 were synthesized by ligand exchange reactions starting from the labile [Cu(CH3CN)4][PF6]…”
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Non-syndromic isolated dominant optic atrophy caused by the p.R468C mutation in the AFG3 like matrix AAA peptidase subunit 2 gene by Colavito, Davide, Maritan, Veronica, Suppiej, Agnese, Del Giudice, Elda, Mazzarolo, Monica, Miotto, Stefania, Farina, Sofia, Dalle Carbonare, Maurizio, Piermarocchi, Stefano, Leon, Alberta

“…Autosomal dominant optic atrophy (DOA) is the most frequent form of hereditary optic atrophy, a disease presenting with considerable inter- and intra-familial…”
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Long-term rearrangement of retinal structures in a novel mutation of X-linked retinoschisis by Piermarocchi, Stefano, Miotto, Stefania, Colavito, Davide, Del Giudice, Elda, Leon, Alberta, Maritan, Veronica, Piermarocchi, Rita, Tormene, Alma Patrizia

“…The aim of the present study was to report a novel mutation in the retinoschisin 1 (RS1) gene in a Caucasian family affected by X-linked juvenile retinoschisis…”
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IL-18 cDNA Vaccination Protects Mice from Spontaneous Lupus-like Autoimmune Disease by Bossù, Paola, Neumann, Detlef, Del Giudice, Elda, Ciaramella, Antonio, Gloaguen, Isabelle, Fantuzzi, Giamila, Dinarello, Charles A., Di Carlo, Emma, Musiani, Piero, Meroni, Pier Luigi, Caselli, Gianfranco, Ruggiero, Paolo, Boraschi, Diana

“…The lupus-like autoimmune syndrome of MRL/Mp-Tnfrsf6lpr(lpr) mice is characterized by progressive lymphadenopathy and auto-antibody production, leading to…”
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Longitudinal analysis of immune cell phenotypes in early stage multiple sclerosis: distinctive patterns characterize MRI-active patients by Rinaldi, Luciano, Gallo, Paolo, Calabrese, Massimiliano, Ranzato, Federica, Luise, Diego, Colavito, Davide, Motta, Matteo, Guglielmo, Anna, Del Giudice, Elda, Romualdi, Chiara, Ragazzi, Eugenio, D’Arrigo, Antonello, Dalle Carbonare, Maurizio, Leontino, Battistin, Leon, Alberta

“…To investigate whether peripheral immune abnormalities are associated with brain inflammation in multiple sclerosis, and whether differences in MRI activity…”
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A novel CACNA1A R2201W variant in a woman with hemiplegic migraine by Baso, Giacomo, Mele, Francesco, Del Giudice, Elda, Leon, Alberta, Pantoni, Leonardo

“…Introduction Familial hemiplegic migraine type 1 (FHM1) is a monogenic rare disease that is characterized by migraine attacks accompanied by unilateral…”
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Genetics screening in an Italian cohort of patients with Amyotrophic Lateral Sclerosis: the importance of early testing and its implication by Libonati, Laura, Cambieri, Chiara, Colavito, Davide, Moret, Federica, D’Andrea, Edoardo, Del Giudice, Elda, Leon, Alberta, Inghilleri, Maurizio, Ceccanti, Marco

“…Introduction Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease with an elusive etiology. While environmental factors have been considered,…”
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Novel variants and cellular studies on patients’ primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis by Lattante, Serena, Doronzio, Paolo Niccolò, Conte, Amelia, Marangi, Giuseppe, Martello, Francesco, Bisogni, Giulia, Meleo, Emiliana, Colavito, Davide, Del Giudice, Elda, Patanella, Agata Katia, Bernardo, Daniela, Romano, Angela, Zollino, Marcella, Sabatelli, Mario

“…Abstract In the last few years, NEK1 has been identified as a new gene related to amyotrophic lateral sclerosis (ALS). Loss-of-function variants have been…”
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Cannabinoids ablate release of TNFα in rat microglial cells stimulated with lypopolysaccharide by Facchinetti, Fabrizio, Del Giudice, Elda, Furegato, Sara, Passarotto, Marzla, Leon, Alberta

“…Upon activation, brain microglial cells release proinflammatory mediators, such as TNFα, which may play an important role in eliciting neuroinflammatory…”
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A novel exomal ATRX mutation with preferential transmission to offspring: A case report and review of the literature for transmission ratio distortion in ATRX families by Stabile, Mariano, Colavito, Davide, Del Giudice, Elda, Rispoli, Anna F, Ingenito, Marina C, Naumova, Anna K

“…The present case report describes an Italian family with three affected probands, who exhibited serious mental disability, which has not been associated with…”
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CHF5074, a novel gamma-secretase modulator, restores hippocampal neurogenesis potential and reverses contextual memory deficit in a transgenic mouse model of Alzheimer's disease by Imbimbo, Bruno P, Giardino, Luciana, Sivilia, Sandra, Giuliani, Alessandro, Gusciglio, Marco, Pietrini, Vladimiro, Del Giudice, Elda, D'Arrigo, Antonello, Leon, Alberta, Villetti, Gino, Calzà, Laura

“…The effects of compounds interfering with gamma-secretase, the enzymatic complex responsible of the formation of the amyloid-beta (Abeta) peptide from…”
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1-(3',4'-Dichloro-2-fluoro[1,1'-biphenyl]-4-yl)-cyclopropanecarboxylic acid (CHF5074), a novel gamma-secretase modulator, reduces brain beta-amyloid pathology in a transgenic mouse model of Alzheimer's disease without causing peripheral toxicity by Imbimbo, Bruno P, Del Giudice, Elda, Colavito, Davide, D'Arrigo, Antonello, Dalle Carbonare, Maurizio, Villetti, Gino, Facchinetti, Fabrizio, Volta, Roberta, Pietrini, Vladimiro, Baroc, Maria F, Serneels, Lutgarde, De Strooper, Bart, Leon, Alberta

“…Some nonsteroidal anti-inflammatory drugs has been shown to allosterically modulate the activity of gamma-secretase, the enzymatic complex responsible for the…”
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Synthesis and Biological Activity of Flurbiprofen Analogues as Selective Inhibitors of β-Amyloid1 - 42 Secretion by Peretto, Ilaria, Radaelli, Stefano, Parini, Carlo, Zandi, Michele, Raveglia, Luca F, Dondio, Giulio, Fontanella, Laura, Misiano, Paola, Bigogno, Chiara, Rizzi, Andrea, Riccardi, Benedetta, Biscaioli, Marcello, Marchetti, Silvia, Puccini, Paola, Catinella, Silvia, Rondelli, Ivano, Cenacchi, Valentina, Bolzoni, Pier Tonino, Caruso, Paola, Villetti, Gino, Facchinetti, Fabrizio, Del Giudice, Elda, Moretto, Nadia, Imbimbo, Bruno P

“…Flurbiprofen, a nonsteroidal antiinflammatory drug (NSAID), has been recently described to selectively inhibit β-amyloid1 - 42 (Aβ42) secretion, the most toxic…”
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Octopamine, unlike other trace amines, inhibits responses of astroglia-enriched cultures to lipopolysaccharide via a β-adrenoreceptor-mediated mechanism by D’Andrea, Giovanni, D’Arrigo, Antonello, Facchinetti, Fabrizio, Del Giudice, Elda, Colavito, Davide, Bernardini, Daniele, Leon, Alberta

“…► Trace amines are known to be increased in patients with migraine and aura. ► Their pathophysiological role is currently unknown. ► We found octopamine to…”
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A New Class of Antitumor trans-Amine-Amidine-Pt(II) Cationic Complexes: Influence of Chemical Structure and Solvent on in Vitro and in Vivo Tumor Cell Proliferation by Marzano, Cristina, Mazzega Sbovata, Silvia, Gandin, Valentina, Colavito, Davide, Del Giudice, Elda, Michelin, Rino A, Venzo, Alfonso, Seraglia, Roberta, Benetollo, Franco, Schiavon, Mariano, Bertani, Roberta

“…The reactions of cyclopropylamine, cyclopentylamine, and cyclohexylamine with trans-[PtCl2(NCMe)2] afforded the bis-cationic complexes…”
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Octopamine, unlike other trace amines, inhibits responses of astroglia-enriched cultures to lipopolysaccharide via a I2-adrenoreceptor-mediated mechanism by DaAndrea, Giovanni, DaArrigo, Antonello, Facchinetti, Fabrizio, Del Giudice, Elda, Colavito, Davide, Bernardini, Daniele, Leon, Alberta

“…Trace amines (TAs), i.e. I2-phenylethylamine, tyramine and octopamine, are generally regarded as sympathomimetic compounds with structural and functional…”
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