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1. Serious Games in the new era of digital-health interventions: A narrative review of their therapeutic applications to manage neurobehavior in neurodevelopmental disorders

Author

Vacca, Rosa Anna, Augello, Agnese, Gallo, Luigi, Caggianese, Giuseppe, Malizia, Velia, La Grutta, Stefania, Murero, Monica, Valenti, Daniela, Tullo, Apollonia, Balech, Bachir, Marzano, Flaviana, Ghezzo, Alessandro, Tancredi, Giancarlo, Turchetta, Attilio, Riccio, Maria Pia, Bravaccio, Carmela, and Scala, Iris

Published
2023
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14. DNA Methylation Analysis of Ribosomal DNA in Adults With Down Syndrome

Author

Ravaioli, Francesco, primary, Zampieri, Michele, additional, Morandi, Luca, additional, Pirazzini, Chiara, additional, Pellegrini, Camilla, additional, De Fanti, Sara, additional, Gensous, Noémie, additional, Pirazzoli, Gian Luca, additional, Sambati, Luisa, additional, Ghezzo, Alessandro, additional, Ciccarone, Fabio, additional, Reale, Anna, additional, Monti, Daniela, additional, Salvioli, Stefano, additional, Caiafa, Paola, additional, Capri, Miriam, additional, Bürkle, Alexander, additional, Moreno-Villanueva, Maria, additional, Garagnani, Paolo, additional, Franceschi, Claudio, additional, and Bacalini, Maria Giulia, additional

Published
2022
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16. Autism Spectrum Disorder from the Womb to Adulthood: Suggestions for a Paradigm Shift

Author

Panisi, Cristina, primary, Guerini, Franca Rosa, additional, Abruzzo, Provvidenza Maria, additional, Balzola, Federico, additional, Biava, Pier Mario, additional, Bolotta, Alessandra, additional, Brunero, Marco, additional, Burgio, Ernesto, additional, Chiara, Alberto, additional, Clerici, Mario, additional, Croce, Luigi, additional, Ferreri, Carla, additional, Giovannini, Niccolò, additional, Ghezzo, Alessandro, additional, Grossi, Enzo, additional, Keller, Roberto, additional, Manzotti, Andrea, additional, Marini, Marina, additional, Migliore, Lucia, additional, Moderato, Lucio, additional, Moscone, Davide, additional, Mussap, Michele, additional, Parmeggiani, Antonia, additional, Pasin, Valentina, additional, Perotti, Monica, additional, Piras, Cristina, additional, Saresella, Marina, additional, Stoccoro, Andrea, additional, Toso, Tiziana, additional, Vacca, Rosa Anna, additional, Vagni, David, additional, Vendemmia, Salvatore, additional, Villa, Laura, additional, Politi, Pierluigi, additional, and Fanos, Vassilios, additional

Published
2021
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19. Vitamin D Receptor Polymorphisms Associated with Autism Spectrum Disorder

Author

Guerini, Franca Rosa, primary, Bolognesi, Elisabetta, additional, Chiappedi, Matteo, additional, Mensi, Maria Martina, additional, Fumagalli, Oscar, additional, Rogantini, Chiara, additional, Zanzottera, Milena, additional, Ghezzo, Alessandro, additional, Zanette, Michela, additional, Agliardi, Cristina, additional, Costa, Andrea Saul, additional, Sotgiu, Stefano, additional, Carta, Alessandra, additional, Al Daghri, Nasser, additional, and Clerici, Mario, additional

Published
2020
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20. Highlight article: Effects of tocotrienol supplementation in Friedreich’s ataxia: A model of oxidative stress pathology

Author

Bolotta, Alessandra, Pini, Antonella, Abruzzo, Provvidenza M, Ghezzo, Alessandro, Modesti, Alessandra, Gamberi, Tania, Ferreri, Carla, Bugamelli, Francesca, Fortuna, Filippo, Vertuani, Silvia, Manfredini, Stefano, Zucchini, Cinzia, and Marini, Marina

Subjects
Friedreich’s ataxia, tocotrienol, oxidative stress markers, inflammation, lipidomics, hepcidin, inflammation, Ambientale, LS7_3, Friedreich’s ataxia, lipidomics, tocotrienol, hepcidin, oxidative stress markers
Published
2020

21. Vitamin D Receptor Polymorphisms Associated with Autism Spectrum Disorder

Author

Guerini, Franca Rosa, Bolognesi, Elisabetta, Chiappedi, Matteo Alessio, Mensi, Maria Martina, Fumagalli, Oscar, Rogantini, Chiara, Zanzottera, Milena, Ghezzo, Alessandro, Zanette, Michela, Agliardi, Cristina, Costa, Andrea Saul, Sotgiu, Stefano, Carta, Alessandra, Al Daghri, Nasser, Clerici, Mario, Chiappedi, Matteo, Zanette, Michela (ORCID:0000-0002-6096-1896), Guerini, Franca Rosa, Bolognesi, Elisabetta, Chiappedi, Matteo Alessio, Mensi, Maria Martina, Fumagalli, Oscar, Rogantini, Chiara, Zanzottera, Milena, Ghezzo, Alessandro, Zanette, Michela, Agliardi, Cristina, Costa, Andrea Saul, Sotgiu, Stefano, Carta, Alessandra, Al Daghri, Nasser, Clerici, Mario, Chiappedi, Matteo, and Zanette, Michela (ORCID:0000-0002-6096-1896)

Abstract

Vitamin D is endowed with a number of biological properties, including down-regulation of inflammation, and might contribute to the pathogenesis of autism spectrum disorders (ASD). Vitamin D binds to the vitamin D Receptor (VDR); the biological activity of the ensuing complex depends on VDR FokI, BsmI, ApaI, and TaqI gene polymorphisms. We evaluated such Single Nucletoide Polymorphismsm (SNPs) in a cohort of 100 Italian families with ASD children. FokI genotype distribution was skewed in ASD children compared with their healthy sibs (Pc = 0.03 2 df) and to a group of 170 Italian healthy women (HC) (Pc = 0.04 2 df). FokI genotype and allelic distribution skewing were also observed in mothers of ASD children compared to HC (Pc = 0.04 2 df). Both Transmission Disequilibrium Test for single loci and haplotype analysis distribution revealed a major FokI (C) allele-mediated protective effect, which was more frequently transmitted (73%) than not transmitted to healthy sibs (P = 0.02). A protective FokI-, BsmI-, ApaI-, and TaqI (CCAG) haplotype was more frequently carried by healthy sibs than by ASD children (P = 1 × 10-4 ; OR: 0.1, 95% CI: 0.03-0.4) too. Finally, a strong gene-dose association of FokI (T) allele with both higher Childhood Autism Rating Scale score (Pc = 0.01) and, particularly, with hyperactivity behavior (Pc = 0.006) emerged in ASD children. Because the protein produced by the FokI (T) allele is transcriptionally less active than that produced by the FokI (C) allele, the reduced biological activity of the vitamin D/VDR complex prevalent in ASD could favor ASD- and maternal immune activation- associated inflammation. Vitamin D supplementation might be useful in preventative and rehabilitation protocols for ASD. LAY SUMMARY: Vitamin D deficiency and Vitamin D receptor (VDR) polymorphisms are associated with structural and functional brain abnormalities and behavioral disorders. We analyzed the association of VDR gene polymorphisms in a cohort of 100 Italian

Published
2020

22. Effects of tocotrienol supplementation in Friedreich’s ataxia: A model of oxidative stress pathology

Author

Bolotta, Alessandra, primary, Pini, Antonella, additional, Abruzzo, Provvidenza M, additional, Ghezzo, Alessandro, additional, Modesti, Alessandra, additional, Gamberi, Tania, additional, Ferreri, Carla, additional, Bugamelli, Francesca, additional, Fortuna, Filippo, additional, Vertuani, Silvia, additional, Manfredini, Stefano, additional, Zucchini, Cinzia, additional, and Marini, Marina, additional

Published
2019
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24. Additional file 1: Table S1. of Advanced glycation endproducts, dityrosine and arginine transporter dysfunction in autism - a source of biomarkers for clinical diagnosis

Author

Attia Anwar, Provvidenza Abruzzo, Pasha, Sabah, Rajpoot, Kashif, Bolotta, Alessandra, Ghezzo, Alessandro, Marini, Marina, Annio Posar, Visconti, Paola, Thornalley, Paul, and Rabbani, Naila

Abstract

Mass spectrometric multiple reaction monitoring detection of protein glycation, oxidation and nitration adducts and amino acids. Table S2. Correlation analysis – plasma protein glycation, oxidation and nitration adduct residues. Table S3. Correlation analysis – plasma protein glycation, oxidation and nitration free adducts. Table S4. Correlation analysis – plasma amino acids. Table S5. Correlation analysis – urinary protein glycation, oxidation and nitration free adducts. Table S6. Correlation analysis – Urinary amino acids. Table S7. Confusion matrix of algorithm to identify autistic spectrum disorder. (DOCX 80 kb)

Published
2018
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25. Oxidative Stress in Autistic Children Alters Erythrocyte Shape in the Absence of Quantitative Protein Alterations and of Loss of Membrane Phospholipid Asymmetry

Author

Bolotta, Alessandra, primary, Battistelli, Michela, additional, Falcieri, Elisabetta, additional, Ghezzo, Alessandro, additional, Manara, Maria Cristina, additional, Manfredini, Stefano, additional, Marini, Marina, additional, Posar, Annio, additional, Visconti, Paola, additional, and Abruzzo, Provvidenza Maria, additional

Published
2018
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29. High predictive values of RBC membrane-based diagnostics by biophotonics in an integrated approach for Autism Spectrum Disorders

Author

Giacometti, Giorgia, primary, Ferreri, Carla, additional, Sansone, Anna, additional, Chatgilialoglu, Chryssostomos, additional, Marzetti, Carla, additional, Spyratou, Ellas, additional, Georgakilas, Alexandros G., additional, Marini, Marina, additional, Abruzzo, Provvidenza M., additional, Bolotta, Alessandra, additional, Ghezzo, Alessandro, additional, Minguzzi, Renato, additional, Posar, Annio, additional, and Visconti, Paola, additional

Published
2017
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30. The biological basis of autism spectrum disorders: evaluation of oxidative stress and erytrocyte membrane alterations

Author

Ghezzo, Alessandro <1962>

Subjects
BIO/13 Biologia applicata
Abstract

This case-control study involved a total of 29 autistic children (Au) aged 6 to 12 years, and 28 gender and age-matched typically developing children (TD). We evaluated a high number of peripheral oxidative stress parameters, erythrocyte and lymphocyte membrane functional features and membrane lipid composition of erythrocyte. Erythrocyte TBARS, Peroxiredoxin II, Protein Carbonyl Groups and urinary HEL and isoprostane levels were elevated in AU (confirming an imbalance of the redox status of Au); other oxidative stress markers or associated parameters (urinary 8-oxo-dG, plasma Total antioxidant capacity and plasma carbonyl groups, erythrocyte SOD and catalase activities) were unchanged, whilst peroxiredoxin I showed a trend of elevated levels in red blood cells of Au children. A very significant reduction of both erythrocyte and lymphocyte Na+, K+-ATPase activity (NKA), a reduction of erythrocyte membrane fluidity, a reduction of phospatydyl serine exposition on erythrocyte membranes, an alteration in erythrocyte fatty acid membrane profile (increase in MUFA and in ω6/ω3 ratio due to decrease in EPA and DHA) and a reduction of cholesterol content of erythrocyte membrane were found in Au compared to TD, without change in erythrocyte membrane sialic acid content and in lymphocyte membrane fluidity. Some Au clinical features appear to be correlated with these findings; in particular, hyperactivity score appears to be related with some parameters of the lipidomic profile and membrane fluidity, and ADOS and CARS score are inversely related to peroxiredoxin II levels. Oxidative stress and erythrocyte structural and functional alterations may play a role in the pathogenesis of Autism Spectrum Disorders and could be potentially utilized as peripheral biomarkers.

Published
2015

31. Perspective Biological Markers for Autism Spectrum Disorders: Advantages of the Use of Receiver Operating Characteristic Curves in Evaluating Marker Sensitivity and Specificity

Author

Abruzzo, Provvidenza M., Ghezzo, Alessandro, Bolotta, Alessandra, Ferreri, Carla, Minguzzi, Renato, Vignini, Arianna, Visconti, Paola, and Marini, Marina

Subjects
Article Subject, mental disorders
Abstract

Autism Spectrum Disorders (ASD) are a heterogeneous group of neurodevelopmental disorders. Recognized causes of ASD include genetic factors, metabolic diseases, toxic and environmental factors, and a combination of these. Available tests fail to recognize genetic abnormalities in about 70% of ASD children, where diagnosis is solely based on behavioral signs and symptoms, which are difficult to evaluate in very young children. Although it is advisable that specific psychotherapeutic and pedagogic interventions are initiated as early as possible, early diagnosis is hampered by the lack of nongenetic specific biological markers. In the past ten years, the scientific literature has reported dozens of neurophysiological and biochemical alterations in ASD children; however no real biomarker has emerged. Such literature is here reviewed in the light of Receiver Operating Characteristic (ROC) analysis, a very valuable statistical tool, which evaluates the sensitivity and the specificity of biomarkers to be used in diagnostic decision making. We also apply ROC analysis to some of our previously published data and discuss the increased diagnostic value of combining more variables in one ROC curve analysis. We also discuss the use of biomarkers as a tool for advancing our understanding of nonsyndromic ASD.

Published
2015
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33. Pyrethroid Pesticide Metabolite in Urine and Microelements in Hair of Children Affected by Autism Spectrum Disorders: A Preliminary Investigation

Author

Domingues, Valentina, primary, Nasuti, Cinzia, additional, Piangerelli, Marco, additional, Correia-Sá, Luísa, additional, Ghezzo, Alessandro, additional, Marini, Marina, additional, Abruzzo, Provvidenza, additional, Visconti, Paola, additional, Giustozzi, Marcello, additional, Rossi, Gerardo, additional, and Gabbianelli, Rosita, additional

Published
2016
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34. Na+, K+‐ATPase activity in children with autism spectrum disorder: Searching for the reason(s) of its decrease in blood cells.

Author

Bolotta, Alessandra, Visconti, Paola, Fedrizzi, Giorgio, Ghezzo, Alessandro, Marini, Marina, Manunta, Paolo, Messaggio, Elisabetta, Posar, Annio, Vignini, Arianna, and Abruzzo, Provvidenza Maria

Abstract

Na+, K+‐ATPase (NKA) activity, which establishes the sodium and potassium gradient across the cell membrane and is instrumental in the propagation of the nerve impulses, is altered in a number of neurological and neuropsychiatric disorders, including autism spectrum disorders (ASD). In the present work, we examined a wide range of biochemical and cellular parameters in the attempt to understand the reason(s) for the severe decrease in NKA activity in erythrocytes of ASD children that we reported previously. NKA activity in leukocytes was found to be decreased independently from alteration in plasma membrane fluidity. The different subunits were evaluated for gene expression in leukocytes and for protein expression in erythrocytes: small differences in gene expression between ASD and typically developing children were not apparently paralleled by differences in protein expression. Moreover, no gross difference in erythrocyte plasma membrane oxidative modifications was detectable, although oxidative stress in blood samples from ASD children was confirmed by increased expression of NRF2 mRNA. Interestingly, gene expression of some NKA subunits correlated with clinical features. Excess inhibitory metals or ouabain‐like activities, which might account for NKA activity decrease, were ruled out. Plasma membrane cholesterol, but not phosphatidylcholine and phosphatidlserine, was slighty decreased in erythrocytes from ASD children. Although no compelling results were obtained, our data suggest that alteration in the erytrocyte lipid moiety or subtle oxidative modifications in NKA structure are likely candidates for the observed decrease in NKA activity. These findings are discussed in the light of the relevance of NKA in ASD. Autism Res2018, 11: 1388–1403. © 2018 International Society for Autism Research, Wiley Periodicals, Inc. Lay Summary: The activity of the cell membrane enzyme NKA, which is instrumental in the propagation of the nerve impulses, is severely decreased in erythrocytes from ASD children and in other brain disorders, yet no explanation has been provided for this observation. We strived to find a biological/biochemical cause of such alteration, but most queries went unsolved because of the complexity of NKA regulation. As NKA activity is altered in many brain disorders, we stress the relevance of studies aimed at understanding its regulation in ASD. [ABSTRACT FROM AUTHOR]

Published
2018
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35. Oxidative stress and oral tocotrienol supplementation: a novel approach to the complementary therapy of Friedreich ataxia

Author

MANFREDINI, STEFANO, MARINI, MARINA, ABRUZZO, PROVVIDENZA MARIA, MARCHIONNI, COSETTA, RAGGI, MARIA AUGUSTA, BUGAMELLI, FRANCESCA, MORGANTI, EMANUELE, GHEZZO, ALESSANDRO, FORTUNA, FILIPPO, Silvia Vertuani, Gemma Malisardi, Alessandra Modesti, Tania Gamberi, Carla Ferreri, Antonella Pini, C. Tomasini, Stefano Manfredini, Silvia Vertuani, Gemma Malisardi, Marina Marini, Provvidenza Maria Abruzzo, Cosetta Marchionni, Maria Augusta Raggi, Francesca Bugamelli, Emanuele Morganti, Alessandra Modesti, Tania Gamberi, Carla Ferreri, Antonella Pini, Alessandro Ghezzo, and Filippo Fortuna

Subjects
FRIEDREICH’S ATAXIA, COMPLEMENTARY THERAPY, OXIDATIVE STRESS, TOCOTRIENOL
Abstract

In this work, we investigated white blood cell gene expression of SOD-1, SOD-2, catalase, GPX-1, GSR and GSTM-1; plasma content of GSH and GSSG; plasma Oxygen Radical Absorbance Capacity; amount of plasma carbonylated proteins; urinary levels of Hexanoyl-Lysine adduct; lipid composition of erythrocyte membranes. Oxidative stress is always associated with Friedreich’s Ataxia (FRDA) also accompained by impaired mitochondrial functions. Patients are currently treated with idebenone, a CoQ10 analogue, believed effective in view of its ability to counteract free radical damages. Vit. E is known to be effective on oxidative stress related pathologies, taking into account our esperience in the field of the class of natural vitamin E “tocotrienol” we have started the present investigation in order to develop a model useful to investigate the efficacy of a tocotrienol based approaches on oxidative stress damage protection. A mixture (OXI-3 internal reference name) of enantiomerically pure tocotrienols (alpha, beta, gamma and delta) has been selected and tested in patients monitoring the above reported different biochemical parameters. The pilot investigation was conducted on five young FRDA patients who assumed OXI-3 (equivalent to 5 mg/kg/day), for two months. The wide array of different markers consistently pointed to the presence of oxidative stress in FRDA patients, despite the fact that the idebenone therapy had not been discontinued. However, even a two month low-dose tocotrienol supplementation led to the decrease of oxidative stress indexes and to parameter values that approached those of healthy controls. Moreover, there are evidences that a longer tocotrienol treatment may be more effective in reducing oxidative stress.

Published
2012

36. A new integrated biochemical approach shows a dec rease of oxidative stress in idebenone.-treated FRDA patients after oral tocotrienol supplementation

Author

MARINI, MARINA, ABRUZZO, PROVVIDENZA MARIA, MARCHIONNI, COSETTA, MORGANTI, EMANUELE, FORTUNA, FILIPPO, GHEZZO, ALESSANDRO, Pini A., Malisardi G., Modesti A., Gamberi T., Ferreri C., Vertuani S., Manfredini S., A. POLETTI, E. CATTANEO, F. TARONI, Marini M., Pini A., Abruzzo P.M., Malisardi G., Marchionni C., Modesti A., Gamberi T., Morganti E., Ferreri C., Vertuani S., Fortuna F., Ghezzo A., and Manfredini S.

Subjects
FRIEDREICH’S ATAXIA, GENE EXPRESSION, OXIDATIVE STRESS, TOCOTRIENOL
Abstract

Friedreich’s Ataxia (FRDA) is characterized by oxidative stress as well as by impaired mitochondrial functions. Patients are currently treated with idebenone, a CoQ10 analogue, and the therapeutic efficacy of Vit. E has been documented. In order to develop a model useful to investigate the efficacy of the approaches for oxidative stress damage protection, a number of biochemical parameters related to oxidative stress were identified and studied in blood samples from five young FRDA patients who assumed tocotrienol (5 mg/kg/day), a highly lipophilic Vit. E analogue, for two months. The following features were studied: white blood cell gene expression of SOD-1, SOD-2, catalase, GPX-1, GSR and GSTM-1; plasma content of GSH and GSSG; plasma Oxygen Radical Absorbance Capacity; amount of plasma carbonylated proteins; lipid composition of erythrocyte membranes. Such wide array of different markers consistently pointed to the presence of oxidative stress in FRDA patients, despite the fact that the idebenone therapy had not been discontinued. However, even a two month low-dose tocotrienol supplementation led to the decrease of oxidative stress indexes and to parameter values that approached those of healthy controls. Moreover, there are evidences that a longer tocotrienol treatment may be more effective in reducing oxidative stress.

Published
2011

37. The biological basis of autism spectrum disorders: evaluation of oxidative stress and erytrocyte membrane alterations

Author

Marini, Marina, Ghezzo, Alessandro <1962>, Marini, Marina, and Ghezzo, Alessandro <1962>

Abstract

This case-control study involved a total of 29 autistic children (Au) aged 6 to 12 years, and 28 gender and age-matched typically developing children (TD). We evaluated a high number of peripheral oxidative stress parameters, erythrocyte and lymphocyte membrane functional features and membrane lipid composition of erythrocyte. Erythrocyte TBARS, Peroxiredoxin II, Protein Carbonyl Groups and urinary HEL and isoprostane levels were elevated in AU (confirming an imbalance of the redox status of Au); other oxidative stress markers or associated parameters (urinary 8-oxo-dG, plasma Total antioxidant capacity and plasma carbonyl groups, erythrocyte SOD and catalase activities) were unchanged, whilst peroxiredoxin I showed a trend of elevated levels in red blood cells of Au children. A very significant reduction of both erythrocyte and lymphocyte Na+, K+-ATPase activity (NKA), a reduction of erythrocyte membrane fluidity, a reduction of phospatydyl serine exposition on erythrocyte membranes, an alteration in erythrocyte fatty acid membrane profile (increase in MUFA and in ω6/ω3 ratio due to decrease in EPA and DHA) and a reduction of cholesterol content of erythrocyte membrane were found in Au compared to TD, without change in erythrocyte membrane sialic acid content and in lymphocyte membrane fluidity. Some Au clinical features appear to be correlated with these findings; in particular, hyperactivity score appears to be related with some parameters of the lipidomic profile and membrane fluidity, and ADOS and CARS score are inversely related to peroxiredoxin II levels. Oxidative stress and erythrocyte structural and functional alterations may play a role in the pathogenesis of Autism Spectrum Disorders and could be potentially utilized as peripheral biomarkers.

Published
2015

38. PREMATURE EPIGENETIC AGING IN DOWN SYNDROME TENDS TO BE ASSOCIATED WITH FUNCTIONAL AND COGNITIVE DEFICITS.

Author

Pirazzoli, Gian Luca, Bacalini, Maria Giulia, Rochat, Magali Jane, Simili, Angelo, Pirazzini, Chiara, Pellegrini, Camilla, Gentilini, Davide, Calzari, Luciano, Cavagnola, Rebecca, Ghezzo, Alessandro, Ravaioli, Francesco, Monti, Daniela, Salvioli, Stefano, Capri, Miriam, Garagnani, Paolo, Lodi, Raffaele, Tonon, Caterina, Franceschi, Claudio, Cortelli, Pietro, and Sambati, Luisa

Published
2022

39. Age-Related Changes of Adaptive and Neuropsychological Features in Persons with Down Syndrome

Author

Ghezzo, Alessandro, primary, Salvioli, Stefano, additional, Solimando, Maria Caterina, additional, Palmieri, Alice, additional, Chiostergi, Chiara, additional, Scurti, Maria, additional, Lomartire, Laura, additional, Bedetti, Federica, additional, Cocchi, Guido, additional, Follo, Daniela, additional, Pipitone, Emanuela, additional, Rovatti, Paolo, additional, Zamberletti, Jessica, additional, Gomiero, Tiziano, additional, Castellani, Gastone, additional, and Franceschi, Claudio, additional

Published
2014
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40. Gut Microbiome in Down Syndrome

Author

Biagi, Elena, primary, Candela, Marco, additional, Centanni, Manuela, additional, Consolandi, Clarissa, additional, Rampelli, Simone, additional, Turroni, Silvia, additional, Severgnini, Marco, additional, Peano, Clelia, additional, Ghezzo, Alessandro, additional, Scurti, Maria, additional, Salvioli, Stefano, additional, Franceschi, Claudio, additional, and Brigidi, Patrizia, additional

Published
2014
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41. SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR.

Author

Tiziano, Francesco Danilo, Pinto, Anna Maria, Fiori, Stefania, Lomastro, Rosa, Messina, Sonia, Bruno, Claudio, Pini, Antonella, Pane, Marika, D'Amico, Adele, Ghezzo, Alessandro, Bertini, Enrico, Mercuri, Eugenio Maria, Neri, Giovanni, Brahe, Cristina Beate, Tiziano, Francesco Danilo (ORCID:0000-0002-5545-6158), Pane, Marika (ORCID:0000-0002-4851-6124), Mercuri, Eugenio Maria (ORCID:0000-0002-9851-5365), Tiziano, Francesco Danilo, Pinto, Anna Maria, Fiori, Stefania, Lomastro, Rosa, Messina, Sonia, Bruno, Claudio, Pini, Antonella, Pane, Marika, D'Amico, Adele, Ghezzo, Alessandro, Bertini, Enrico, Mercuri, Eugenio Maria, Neri, Giovanni, Brahe, Cristina Beate, Tiziano, Francesco Danilo (ORCID:0000-0002-5545-6158), Pane, Marika (ORCID:0000-0002-4851-6124), and Mercuri, Eugenio Maria (ORCID:0000-0002-9851-5365)

Published
2010

42. Identification of a DNA methylation signature in blood cells from persons with Down Syndrome

Author

Bacalini, Maria Giulia, primary, Gentilini, Davide, additional, Boattini, Alessio, additional, Giampieri, Enrico, additional, Pirazzini, Chiara, additional, Giuliani, Cristina, additional, Fontanesi, Elisa, additional, Scurti, Maria, additional, Remondini, Daniel, additional, Capri, Miriam, additional, Cocchi, Guido, additional, Ghezzo, Alessandro, additional, Del Rio, Alberto, additional, Luiselli, Donata, additional, Vitale, Giovanni, additional, Mari, Daniela, additional, Castellani, Gastone, additional, Fraga, Mario, additional, Di Blasio, Anna Maria, additional, Salvioli, Stefano, additional, Franceschi, Claudio, additional, and Garagnani, Paolo, additional

Published
2014
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43. An integrated route to identifying new pathogenesis-based therapeutic approaches for trisomy 21 (Down Syndrome) following the thought of Jérôme Lejeune

Author

Strippoli, Pierluigi, primary, Pelleri, Maria Chiara, primary, Caracausi, Maria, additional, Vitale, Lorenza, additional, Piovesan, Allison, additional, Locatelli, Chiara, additional, Mimmi, Maria Chiara, additional, Berardi, Anna Concetta, additional, Ricotta, Doris, additional, Radeghieri, Annalisa, additional, Barisani, Donatella, additional, Basik, Mark, additional, Monaco, Maria Chiara, additional, Ghezzo, Alessandro, additional, Seri, Marco, additional, and Cocchi, Guido, additional

Published
2013
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44. Oxidative Stress and Erythrocyte Membrane Alterations in Children with Autism: Correlation with Clinical Features

Author

Ghezzo, Alessandro, primary, Visconti, Paola, additional, Abruzzo, Provvidenza M., additional, Bolotta, Alessandra, additional, Ferreri, Carla, additional, Gobbi, Giuseppe, additional, Malisardi, Gemma, additional, Manfredini, Stefano, additional, Marini, Marina, additional, Nanetti, Laura, additional, Pipitone, Emanuela, additional, Raffaelli, Francesca, additional, Resca, Federica, additional, Vignini, Arianna, additional, and Mazzanti, Laura, additional

Published
2013
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48. SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR

Author

Tiziano, Francesco Danilo, primary, Pinto, Anna Maria, additional, Fiori, Stefania, additional, Lomastro, Rosa, additional, Messina, Sonia, additional, Bruno, Claudio, additional, Pini, Antonella, additional, Pane, Marika, additional, D'Amico, Adele, additional, Ghezzo, Alessandro, additional, Bertini, Enrico, additional, Mercuri, Eugenio, additional, Neri, Giovanni, additional, and Brahe, Christina, additional

Published
2009
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49. Identification of a DNA methylation signature in blood cells from persons with down syndrome

Author

Bacalini, Maria Giulia, Gentilini, Davide, Boattini, Alessio, Giampieri, Enrico, Pirazzini, Chiara, Giuliani, Cristina, Fontanesi, Elisa, Scurti, Maria, Remondini, Daniel, Capri, Miriam, Cocchi, Guido, Ghezzo, Alessandro, Rio, Alberto Del, Luiselli, Donata, Vitale, Giovanni, Mari, Daniela, Castellani, Gastone, Fraga, Mario, Di Blasio, Anna Maria, Salvioli, Stefano, Franceschi, Claudio, Garagnani, Paolo, Bacalini MG, Gentilini D, Boattini A, Giampieri E, Pirazzini C, Giuliani C, Fontanesi E, Scurti M, Remondini D, Capri M, Cocchi G, Ghezzo A, Del Rio A, Luiselli D, Vitale G, Mari D, Castellani G, Fraga M, Di Blasio AM, Salvioli S, Franceschi C, and Garagnani P.

Subjects
Premature aging, Male, Infinium Human Methylation 450 BeadChip, Biology, Bioinformatics, Epigenesis, Genetic, Leukocyte Count, medicine, Leukocytes, Humans, Epigenetics, Genetics, DNA methylation, epigenetics, aging, Cell Biology, Methylation, medicine.disease, Chromatin, Differentially methylated regions, Gene Ontology, Female, Down Syndrome, Chromosome 21, Trisomy, Research Paper
Abstract

Down Syndrome (DS) is characterized by a wide spectrum of clinical signs, which include segmental premature aging of central nervous and immune systems. Although it is well established that the causative defect of DS is the trisomy of chromosome 21, the molecular bases of its phenotype are still largely unknown. We used the Infinium HumanMethylation450 BeadChip to investigate DNA methylation patterns in whole blood from 29 DS persons, using their relatives (mothers and unaffected siblings) as controls. This family-based model allowed us to monitor possible confounding effects on DNA methylation patterns deriving from genetic and environmental factors. Although differentially methylated regions (DMRs) displayed a genome-wide distribution, they were enriched on chromosome 21. DMRs mapped in genes involved in developmental functions, including embryonic development (HOXA family) and haematological (RUNX1 and EBF4) and neuronal (NCAM1) development. Moreover, genes involved in the regulation of chromatin structure (PRMD8, KDM2B, TET1) showed altered methylation. The data also showed that several pathways are affected in DS, including PI3K-Akt signaling. In conclusion, we identified an epigenetic signature of DS that sustains a link between developmental defects and disease phenotype, including segmental premature aging.

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