SNAP-25 single nucleotide polymorphisms are associated with hyperactivity in autism spectrum disorders. (Articolo in rivista)

Type

• Prodotto della ricerca (Classe)
• Articolo in rivista (Classe)

Label

• SNAP-25 single nucleotide polymorphisms are associated with hyperactivity in autism spectrum disorders. (Articolo in rivista) (literal)

Anno

• 2011-01-01T00:00:00+01:00 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi

• 10.1016/j.phrs.2011.03.015 (literal)

Alternative label

• Franca R. Guerini1, Elisabetta Bolognesi1, Matteo Chiappedi1,2, Salvatorica Manca3, Alessandro Ghezzo1, Cristina Agliardi1, Stefano Sotgiu4, Sonia Usai5, Michela Matteoli1,6, Mario Clerici1,7 (2011)
  SNAP-25 single nucleotide polymorphisms are associated with hyperactivity in autism spectrum disorders.
  in Pharmacological research (Print)
  (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

• Franca R. Guerini1, Elisabetta Bolognesi1, Matteo Chiappedi1,2, Salvatorica Manca3, Alessandro Ghezzo1, Cristina Agliardi1, Stefano Sotgiu4, Sonia Usai5, Michela Matteoli1,6, Mario Clerici1,7 (literal)

Pagina inizio

• 283 (literal)

Pagina fine

• 288 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

• 64 (literal)

Rivista

• Pharmacological research (Rivista)

Note

• ISI Web of Science (WOS) (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

• 1 Don C. Gnocchi Foundation ONLUS, P. le Morandi 6, 20121 Milano, Italy 2 Department of Neurological Sciences, University of Pavia, Pavia, Italy 3 UONPIA, Azienda USL No.1, Via Oriani 1, 07100 Sassari, Italy 4 Section of Neurology, Department of Neuroscience, University of Sassari, Viale San Pietro 10, 07100 Sassari, Italy 5 Institute of Child Neuropsychiatry, University of Sassari, Piazza Università, 07100 Sassari, Italy 6 Department of Pharmacology, CNR Institute of Neuroscience, University of Milano, Milano, Italy 7 Department of Biomedical Sciences and Technology, University of Milano, Via Flli Cervi 93, 20090 Segrate, Milano, Italy (literal)

Titolo

• SNAP-25 single nucleotide polymorphisms are associated with hyperactivity in autism spectrum disorders. (literal)

Abstract

• Synaptosomal-associated protein of 25 kD (SNAP-25), a protein participating in the regulation of synaptic vesicle exocytosis and in calcium homeostasis, was recently involved in neuropsychiatric conditions. Because alterations affecting the homeostasis of calcium are described in patients affected by autism spectrum disorders (ASD) we investigated a possible involvement of SNAP-25 in ASD by evaluating five SNAP-25 gene polymorphisms in a cohort of 67 ASD children. Data analyzed in relationship with clinical outcomes and compared to those of 205 healthy sex-matched children did not reveal significant differences. Further analyses nevertheless showed the presence of highly significant associations of the rs363043 (CT) genotype, localized in the intron 1 region that affects the transcription factor binding sites of the SNAP-25 gene, with both increasing CARS (p = 0.001) and hyperactivity scores (p = 0.006). The finding that polymorphisms of the SNAP-25 gene, a gene involved in neurotransmission and regulation of calcium homeostasis, are associated with the degree of hyperactivity in children with ASD, reinforces the hypothesis that alterations of these mechanisms play a pivotal role in the events leading to ASD-associated behavioral impairment. Modulation of these processes could result in novel therapeutic strategies. (literal)

Prodotto di

• Farmacologia Cellulare e Molecolare delle Cellule Nervose (ME.P02.007.001) (Modulo)
• Institute of neuroscience (IN) (Istituto)

Autore CNR

• MICHELA MATTEOLI (Unità di personale esterno)

Incoming links:

Prodotto

• Institute of neuroscience (IN) (Istituto)
• Farmacologia Cellulare e Molecolare delle Cellule Nervose (ME.P02.007.001) (Modulo)

Autore CNR di

• MICHELA MATTEOLI (Unità di personale esterno)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• Pharmacological research (Rivista)