A5002309553- Autism Spectrum Disorder Research
- Genetics and Neurodevelopmental Disorders
- Parkinson's Disease Mechanisms and Treatments
- Congenital heart defects research
- Retinal Development and Disorders
- Neuroscience and Neuropharmacology Research
- RNA regulation and disease
- Nuclear Receptors and Signaling
- Functional Brain Connectivity Studies
- Neurogenesis and neuroplasticity mechanisms
- Mitochondrial Function and Pathology
- Cellular transport and secretion
- Neuroinflammation and Neurodegeneration Mechanisms
- Biochemical Analysis and Sensing Techniques
- Lysosomal Storage Disorders Research
- Genetic Neurodegenerative Diseases
- Neuroscience and Neural Engineering
- DNA Repair Mechanisms
- Nutrition, Genetics, and Disease
- Genomics and Chromatin Dynamics
- Neuroendocrine regulation and behavior
- Chromatin Remodeling and Cancer
- Cancer Research and Treatment
- Autoimmune Neurological Disorders and Treatments
- Trace Elements in Health
University of Trento
2016-2025
Center for Neuroscience and Cognitive Systems
2023
Laboratory of Molecular Genetics
2015
National Research Council
2007-2011
Institute of Neurological Sciences
2007-2011
National Academies of Sciences, Engineering, and Medicine
2011
Inserm
2010
Sorbonne Université
2010
Pitié-Salpêtrière Hospital
2010
Centre National de la Recherche Scientifique
2010
Autism Spectrum Disorder (ASD) is characterized by substantial, yet highly heterogeneous abnormalities in functional brain connectivity. However, the origin and significance of this phenomenon remain unclear. To unravel ASD connectopathy relate it to underlying etiological heterogeneity, we carried out a bi-center cross-etiological investigation fMRI-based connectivity mouse, which specific ASD-relevant mutations can be isolated modeled minimizing environmental contributions. By performing...
Mutations of the LGI1 (leucine-rich, glioma-inactivated 1) gene underlie autosomal dominant lateral temporal lobe epilepsy, a focal idiopathic inherited epilepsy syndrome. The encodes protein secreted by neurons, one only non-ion channel genes implicated in familial epilepsy. While mutations probably result loss function, role pathophysiology remains unclear. Here we generated germline knockout mouse for and examined spontaneous seizure characteristics, changes threshold induced seizures...
Overreactivity and defensive behaviors in response to tactile stimuli are common symptoms autism spectrum disorder (ASD) patients. Similarly, somatosensory hypersensitivity has also been described mice lacking ASD-associated genes such as
Abstract Recent studies have reported an association between the glucocerebrosidase ( GBA ) gene and Parkinson's disease (PD). To elucidate role of this in our population, we screened 395 PD patients 483 controls from southern Italy for N370S L444P mutations. We found 11 (2.8%) carrying a heterozygous mutant allele, whereas only one control subject (0.2%) had substitution P = 0.0018). These results strongly suggest that Italian carriers mutation increased risk developing PD. © 2007 Movement...
Abstract Abnormal tactile response is an integral feature of Autism Spectrum Disorders (ASDs), and hypo-responsiveness to stimuli often associated with the severity ASDs core symptoms. Patients Phelan-McDermid syndrome (PMS), caused by mutations in SHANK3 gene, show ASD-like symptoms aberrant responses. The neural underpinnings these abnormalities are still poorly understood. Here we investigated, Shank3b−/− adult mice, substrates whisker-guided behaviors, a key component rodents’...
Sensory abnormalities are a common feature in autism spectrum disorders (ASDs). Tactile responsiveness is altered autistic individuals, with hypo-responsiveness being associated the severity of ASD core symptoms. Similarly, sensory have been described mice lacking ASD-associated genes. Loss-of-function mutations CNTNAP2 result cortical dysplasia-focal epilepsy syndrome (CDFE) and autism. Likewise, Cntnap2-/- show deficits relevant symptoms human ASDs, considered reliable model to study ASDs....
Genomic mechanisms enhancing risk in males may contribute to sex bias autism. The ubiquitin protein ligase E3A gene ( Ube3a ) affects cellular homeostasis via control of turnover and by acting as transcriptional coactivator with steroid hormone receptors. Overdosage duplication or triplication chromosomal region 15q11-13 causes 1 2% autistic cases. Here, we test the hypothesis that increased dosage influence autism-relevant phenotypes a sex-biased manner. We show mice extra copies exhibit...
It is frequently assumed that the phenotypic heterogeneity in autism spectrum disorder reflects underlying pathobiological variation. However, direct evidence support of this hypothesis lacking. Here, we leverage cross-species functional neuroimaging to examine whether variability brain connectivity distinct biological mechanisms. We find fMRI alterations 20 mouse models (n=549 individual mice) can be clustered into two prominent hypo- and hyperconnectivity subtypes. show these profiles are...
Autism spectrum disorders (ASDs) are a heterogeneous group of neurodevelopmental diseases characterized by triad specific behavioral traits: abnormal social interactions, communication deficits and stereotyped or repetitive behaviors. Several recent studies showed that ASDs have strong genetic basis, contributing to the discovery number ASD-associated genes. Due complexity these disorders, mouse strains with targeted deletion ASD genes become an essential tool investigate molecular...
Autism spectrum disorders (ASD) are characterized by a high degree of genetic heterogeneity. Genomic studies identified common pathological processes underlying the heterogeneous clinical manifestations ASD, and transcriptome analyses revealed that gene networks involved in synapse development, neuronal activity, immune function deregulated ASD. Mouse models provide unique tools to investigate neurobiological basis ASD; however, comprehensive approach identify transcriptional abnormalities...
Dopamine D2 receptor (D2R) signalling has been shown to modulate seizure-induced hippocampal cell death. D2R knockout (D2R−/−) mice are more susceptible kainic acid (KA)-induced excitotoxicity, displaying death in the CA3 subfield of hippocampus at KA doses not damaging wild-type (WT) animals. Absence leads activation (dephosphorylation) glycogen synthase kinase 3β (GSK-3β) after (20 mg/kg), which is associated with a change phosphorylation GSK-3β regulator Akt canonical threonine 308...
Transcriptome analysis has been used in autism spectrum disorder (ASD) to unravel common pathogenic pathways based on the assumption that distinct rare genetic variants or epigenetic modifications affect biological pathways. To recurrent ASD-related neuropathological mechanisms, we took advantage of En2-/- mouse model and performed transcriptome profiling cerebellar hippocampal adult tissues.Cerebellar tissue samples from three wild type (WT) littermate mice were assessed for differential...
Genome-wide association studies indicated the homeobox-containing transcription factor Engrailed-2 ( En2 ) as a candidate gene for autism spectrum disorders (ASD). Accordingly, knock-out −/− mice show anatomical and behavioral “ASD-like” features, including decreased sociability learning deficits. The molecular pathways underlying these deficits in are not known. Deficits signaling involving neurofibromin extracellular-regulated kinase (ERK) have been associated with impaired learning. Here...
Mutations in the gene DJ-1 have been shown to be a rare cause of early-onset Parkinson's disease (EOPD). Since mutations found patients with (PD) from southern Italy, we aimed investigate whether polymorphisms within could represent risk factor for sporadic PD. First, genotyped 294 PD and 298 controls coming Italy assess distribution insertion/deletion (Ins/Del) polymorphism. In second phase, identified five single-nucleotide (SNPs) useful delimit region potentially involved all these...
Abstract Interest in the function of ataxia-telangiectasia-mutated protein (ATM) is extensively growing as evidenced by preclinical studies that continuously link ATM with new intracellular pathways. Here, we exploited Atm +/− and −/− mice demonstrate cognitive defects are rescued delivery antidepressant Fluoxetine (Fluox). Fluox increases levels chloride intruder NKCC1 exclusively at hippocampal level suggesting an context-specificity. A deeper investigation synaptic composition unveils...