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60 results on '"Cutrupi, M. C."'

1. Neuroinflammation in Autism Spectrum Disorders: Role of High Mobility Group Box 1 Protein

Author

VALERIA DIPASQUALE, Cutrupi, M. C., Colavita, L., Manti, S., Cuppari, C., and Salpietro, C.

Subjects
marker, high mobility group box-1, mental disorders, Review Article, Autism spectrum disorder, high mobility group box-1, immunity, marker, neuroinflammation, Autism spectrum disorder, immunity, neuroinflammation
Abstract

The pathogenesis of autism spectrum disorder (ASD) likely involves genetic and environmental factors, impacting the complex neurodevelopmental and behavioral abnormalities of the disorder. Scientific research studies emerging within the past two decades suggest that immune dysfunction and inflammation have pathogenic influences through different mechanisms, all leading to both a chronic state of low grade inflammation, and alterations in the central nervous system and immune response, respectively. The high mobility group box-1 protein (HMGB1) is an inflammatory marker which has been shown to play a role in inducing and influencing neuroinflammation. Current evidences suggest a possible role in the multiple pathogenic mechanisms of ASD. The aim of this manuscript is to review the major hypothesis for ASD pathogenesis, with specific regards to the immunological ones, and to provide a comprehensive review of the current data about the association between HMGB1 and ASD. A systematic search has been carried out through Medline via Pubmed to identify all original articles published in English, on the basis of the following keywords: "HMGB1", "autism", "autism spectrum disorder", "neuroinflammation", and "child".

Published
2017

4. Inflammatory biomarkers and intellectual disability in patients with Down syndrome

Author

Manti, S., Cutrupi, M. C., Cuppari, C., Ferro, E., Dipasquale, V., Di Rosa, G., Chimenz, R., La Rosa, M. A., Valenti, A., and Salpietro, V.

Subjects
Inflammation, Male, Serum Amyloid A Protein, Adolescent, Down syndrome, serum amyloid A, C-reactive protein, Down syndrome, children, high mobility group box-1, intellectual quotient, serum amyloid A, C-reactive protein, children, high mobility group box-1, intellectual quotient, Cohort Studies, Italy, Child, Preschool, Intellectual Disability, Humans, Female, HMGB1 Protein, Child, Biomarkers
Abstract

Intellectual disability (ID) is part of the Down syndrome (DS) phenotypic spectrum, but the exact molecular pathophysiology of ID in individuals with DS is not yet fully understood, with many research hypotheses still unproven. Basing on previous studies (which suggested a possible role of altered inflammatory response in DS-related ID), we assessed the serum levels of a number of inflammatory biomarkers [serum amyloid A (SAA), C-reactive protein (C-RP), high mobility group box-1 (HMGB1)] in a cohort of individuals with DS and healthy controls.In total, 24 children diagnosed with DS and 12 healthy controls were enrolled, and all underwent detailed cognitive assessment. Also, serum SAA, C-RP and HMGB1 levels were measured in all recruited subjects and correlated to the severity of ID in the DS group.Serum SAA, C-RP and HMGB1 values were found to be significantly higher in the DS group compared with the healthy subjects (P = 0.001). In addition, serum HMGB1 levels positively correlated with C-RP and SAA in the DS group but not in the healthy controls. Only serum C-RP levels resulted inversely correlated (P 0.01) with intelligence quotient (IQ); conversely, significant statistical correlations between serum SAA levels and IQ (as well as between HMGB1 and IQ) have been not found (P 0.05).The levels of the determined markers were higher in DS individuals compared with (cognitively) healthy subjects, and CRP showed a negative correlation with IQ in children with DS.

Published
2018

5. Due casi di carcinoma tiroideo in pazienti affetti da talassemia

Author

Camarda, N., Piraino, B., Moschella, E., La Rosa, M. A., Cutrupi, M. C., Calabrò, G. E., Alterio, T., Centorrino, R., Costa, A., Morabito, G., Pizzino, M. R., Manti, S., SALPIETRO DAMIANO, Carmelo, Rigoli, Luciana Concetta, and Arrigo, Teresa

Published
2012

6. Genetic basis of non syndromic hypodontia: a DNA investigation performed on three couples of monozygotic twins about PAX9 mutation

Author

Militi, D., Militi, A., Cutrupi, M. C., Portelli, M., Rigoli, L., Giovanni Matarese, and Salpietro, D. C.

Subjects
Jaw, Edentulous, Partially, Hypodontia, Hypodontia, gene Pax9, Mandible, Twins, Monozygotic, Incisor, gene Pax9, Diseases in Twins, Maxilla, Humans, Female, Molar, Third, PAX9 Transcription Factor, Anodontia
Abstract

Hypodontia, agenesis of one or of more teeth, is a common developmental dental anomaly. To date, over 200 candidate genes have been demonstrated to be active in tooth development. The genes Pax9 plays an important role in the initial stage of odontogenesis. Mutations of Pax9 are associated with autosomal dominant forms of oligodontia, the agenesis of more than six teeth and occasionally of premolars (MIM 604625) in humans. The aim of the present study was to screen the candidate gene causing the non syndromic hypodontia, with agenesis of upper third molars and upper lateral incisors, in three couples of twins.Peripheral blood samples taken for routine laboratory investigations were used for genotyping. Total genomic DNA was extracted from the buffy coat of 1 ml of EDTA blood samples using phenol-chloroform and the salting out procedure.The insC mutation (nt793, exon4) was observed in the sequencing results by the use of the primers hPAX9ex4F and hPAX9ex4R. InsC raises a frameshift mutation that introduces a nonsense codon so the mRNA activity results impaired.In this work, it is described how the same mutation is responsible for a form of dental agenesis--less severe in the number of missing teeth--leading to hypodontia instead of oligodontia. Therefore, it is possible that mutations of the same gene cause different phenotypes; so we can presume that some modifier genes moderate the effect of the first mutation.

Published
2011

7. Su un caso di microdelezione 11q13.2-q13.4

Author

Comito, D., Cutrupi, M. C., Calabrò, G. E., Talenti, A., Vicchio, P., Loddo, I., Deak, A., Mazzola, E., Meduri, S., Ferro, E., Civa, R., Giuffrida, A., Cuppari, C., Briuglia, Silvana, and SALPIETRO DAMIANO, Carmelo

Published
2010

8. Su un caso di micro-riarrangiamenti subtelomerici

Author

Comito, D., Talenti, A., Cutrupi, M. C., Calabrò, G. E., Vicchio, P., Deak, A., Mazzola, E., Meduri, S., Ferro, E., Civa, R., Giuffrida, A., Munafò, C., Wasniewska, Malgorzata Gabriela, Briuglia, Silvana, and SALPIETRO DAMIANO, Carmelo

Published
2010

9. Malattia di Hirschsprung e Sindrome di Down

Author

Loddo, I., Briuglia, Silvana, Ferraù, V., Cutrupi, M. C., Calabrò, G. E., Talenti, A., Famiani, A., Rossi, P., Meduri, S., Cuppari, C., Gallizzi, Romina, Romano, C., and SALPIETRO DAMIANO, Carmelo

Published
2010

10. Su un caso di microdelezione 6p25.1-6p25.3

Author

Vicchio, P., Cutrupi, M. C., Calabrò, G. E., Comito, D., Talenti, A., Deak, A., Chirico, V., Rossi, P., Meduri, S., Ferro, E., Civa, R., Giuffrida, A., Cuppari, C., Munafò, C., Briuglia, Silvana, and SALPIETRO DAMIANO, Carmelo

Published
2010

12. Ipercheratosi palmo-plantare: una rara genodermatosi

Author

Briuglia, Silvana, Niglia, E., Cutrupi, M. C., Raffa, V., Comito, D., Mallamace, R., Loddo, I., Chirico, V., Cuppari, C., Munafò, C., Gallizzi, Romina, and SALPIETRO DAMIANO, Carmelo

Published
2009

20. Un caso di malattia di Lery Weill

Author

Briuglia, Silvana, Cutrì, M. R., Gallizzi, R., Cutrupi, M. C., Munafò, C., Cuppari, C., Burgo, A., Raffa, V., Comito, D., Chirico, V., Deak, A., and SALPIETRO DAMIANO, Carmelo

Published
2008

21. Condrodisplasia Metafisaria di Schmid: descrizione di un caso

Author

Calabrò, G. E., Briuglia, Silvana, Cammarere, B., Vicchio, P., Ferraù, V., Cutrupi, M. C., Aversa, S., Moscheo, C., Rossi, P., Procopio, V., Amorini, M., LO GIUDICE, G., Magnoli, D., Gallizzi, R., and SALPIETRO DAMIANO, Carmelo

Published
2008

43. Descrizione di un caso di Sindrome di TAR

Author

Merlino, M. V., Bonfiglio, A., Gravina, M. R., Muscolino, G., Cutrupi, M. C., Rigoli, L., Briuglia, Silvana, LA ROSA, M. A., and SALPIETRO DAMIANO, Carmelo

Published
2004

49. Congenital heart disease in down syndrome

Author

Gramaglia, S. M. C., Cuppari, C., Salpietro, C., Ceravolo, A., Cutrupi, M. C., Concolino, D., De Sarro, R., Amatruda, M., Mondello, P., Ceravolo, G., Calabro, M. P., Gitto, E., and Sestito, S.

Subjects
Heart Defects, Congenital, Atrioventricular septal defects (AVSD), Congenital heart disease (CHD), Down syndrome (DS), Pulmonary hypertension (PH), Congenital heart disease (CHD), Down syndrome (DS), Humans, Down Syndrome, Atrioventricular septal defects (AVSD), Pulmonary hypertension (PH)

50. Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

Author

Salpietro, Vincenzo, Malintan, Nancy T, Llano-Rivas, Isabel, Spaeth, Christine G, Efthymiou, Stephanie, Striano, Pasquale, Vandrovcova, Jana, Cutrupi, Maria C, Chimenz, Roberto, David, Emanuele, Di Rosa, Gabriella, Marce-Grau, Anna, Raspall-Chaure, Miquel, Martin-Hernandez, Elena, Zara, Federico, Minetti, Carlo, Bello, Oscar D, De Zorzi, Rita, Fortuna, Sara, Dauber, Andrew, Alkhawaja, Mariam, Sultan, Tipu, Mankad, Kshitij, Vitobello, Antonio, Thomas, Quentin, Mau-Them, Frederic Tran, Faivre, Laurence, Martinez-Azorin, Francisco, Prada, Carlos E, Macaya, Alfons, Kullmann, Dimitri M, Rothman, James E, Krishnakumar, Shyam S, Houlden, Henry, Kriouile, Yamna, El Khorassani, Mohamed, Aguennouz, Mhammed, Karashova, Blagovesta, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Van Maldergem, Lionel, Nachbauer, Wolfgang, Boesch, Sylvia, Arning, Larissa, Timmann, Dagmar, Cormand, Bru, Pérez-Dueñas, Belen, Pironti, Erica, Goraya, Jatinder S, Kirmani, Salman, Ibrahim, Shahnaz, Jan, Farida, Mine, Jun, Banu, Selina, Veggiotti, Pierangelo, Ferrari, Michel D, Verrotti, Alberto, Marseglia, Gian Luigi, Savasta, Salvatore, Garavaglia, Barbara, Scuderi, Carmela, Borgione, Eugenia, Dipasquale, Valeria, Cutrupi, Maria Concetta, Portaro, Simona, Sanchez, Benigno Monteagudo, Pineda-Marfa’, Mercedes, Munell, Francina, Boles, Richard, Heimer, Gali, Papacostas, Savvas, Manole, Andreea, Malintan, Nancy, Zanetti, Maria Natalia, Hanna, Michael G, Houlden, Henry., Salpietro, V., Malintan, N. T., Llano-Rivas, I., Spaeth, C. G., Efthymiou, S., Striano, P., Vandrovcova, J., Cutrupi, M. C., Chimenz, R., David, E., Di Rosa, G., Marce-Grau, A., Raspall-Chaure, M., Martin-Hernandez, E., Zara, F., Minetti, C., Kriouile, Y., El Khorassani, M., Aguennouz, M., Karashova, B., Avdjieva, D., Kathom, H., Tincheva, R., Van Maldergem, L., Nachbauer, W., Boesch, S., Arning, L., Timmann, D., Cormand, B., Perez-Duenas, B., Pironti, E., Goraya, J. S., Sultan, T., Kirmani, S., Ibrahim, S., Jan, F., Mine, J., Banu, S., Veggiotti, P., Ferrari, M. D., Verrotti, A., Marseglia, G. L., Savasta, S., Garavaglia, B., Scuderi, C., Borgione, E., Dipasquale, V., Portaro, S., Sanchez, B. M., Pineda-Marfa, M., Munell, F., Macaya, A., Boles, R., Heimer, G., Papacostas, S., Manole, A., Malintan, N., Zanetti, M. N., Hanna, M. G., Rothman, J. E., Kullmann, D. M., Houlden, H., Bello, O. D., De Zorzi, R., Fortuna, S., Dauber, A., Alkhawaja, M., Mankad, K., Vitobello, A., Thomas, Q., Mau-Them, F. T., Faivre, L., Martinez-Azorin, F., Prada, C. E., and Krishnakumar, S. S.

Subjects
Male, Heterozygote, Adolescent, Vesicle-Associated Membrane Protein 2, neuronal exocytosi, synaptopathy, autism, synaptobrevin, Membrane Fusion, Exocytosis, R-SNARE Proteins, Protein Domains, Report, Intellectual Disability, Genetics, Humans, Autistic Disorder, Child, Genetics (clinical), Neurons, Neurotransmitter Agents, neurodevelopmental disorders, vesicle fusion, Brain, epilepsy, movement disorders, neuronal exocytosis, SNARE, VAMP2, Lipids, Magnetic Resonance Imaging, neurodevelopmental disorder, autism, epilepsy, movement disorders, neurodevelopmental disorders, neuronal exocytosis, SNARE, synaptobrevin, synaptopathy, VAMP2, vesicle fusion, Genetics, Genetics (clinical), Phenotype, Child, Preschool, Mutation, Synapses, Muscle Hypotonia, Female, sense organs, movement disorder
Abstract

VAMP2 encodes the vesicular SNARE protein VAMP2 (also called synaptobrevin-2). Together with its partners syntaxin-1A and synaptosomal-associated protein 25 (SNAP25), VAMP2 mediates fusion of synaptic vesicles to release neurotransmitters. VAMP2 is essential for vesicular exocytosis and activity-dependent neurotransmitter release. Here, we report five heterozygous de novo mutations in VAMP2 in unrelated individuals presenting with a neurodevelopmental disorder characterized by axial hypotonia (which had been present since birth), intellectual disability, and autistic features. In total, we identified two single-amino-acid deletions and three non-synonymous variants affecting conserved residues within the C terminus of the VAMP2 SNARE motif. Affected individuals carrying de novo non-synonymous variants involving the C-terminal region presented a more severe phenotype with additional neurological features, including central visual impairment, hyperkinetic movement disorder, and epilepsy or electroencephalography abnormalities. Reconstituted fusion involving a lipid-mixing assay indicated impairment in vesicle fusion as one of the possible associated disease mechanisms. The genetic synaptopathy caused by VAMP2 de novo mutations highlights the key roles of this gene in human brain development and function.

Published
2019

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