A5014587233- Autism Spectrum Disorder Research
- Genetics and Neurodevelopmental Disorders
- Attention Deficit Hyperactivity Disorder
- Genomic variations and chromosomal abnormalities
- Child Nutrition and Feeding Issues
- Congenital heart defects research
- Genomics and Chromatin Dynamics
- Gastrointestinal motility and disorders
- Seed Germination and Physiology
- RNA modifications and cancer
- Plant Molecular Biology Research
- Light effects on plants
- Neuroendocrine regulation and behavior
- Infant Health and Development
- Chromosomal and Genetic Variations
- Obsessive-Compulsive Spectrum Disorders
- Paraoxonase enzyme and polymorphisms
- Pesticide Exposure and Toxicity
- Tryptophan and brain disorders
Università Campus Bio-Medico
2014-2021
Fondazione Santa Lucia
2014
Istituto Pasteur
2009
Autism spectrum disorder (ASD) is still diagnosed through behavioral observation, due to a lack of laboratory biomarkers, which could greatly aid clinicians in providing earlier and more reliable diagnoses. Metabolomics on human biofluids provides sensitive tool identify metabolite profiles potentially usable as biomarkers for ASD. Initial metabolomic studies, analyzing urines plasma ASD control individuals, suggested that autistic patients may share some metabolic abnormalities, despite...
We have previously shown that inactivation of the gene encoding Arabidopsis thaliana transcription factor DOF AFFECTING GERMINATION 1 (DAG1) renders seed germination more sensitive to both phytochrome B (phyB) and gibberellins (GA). dag1 mutant seeds require less red (R) light fluence a lower GA concentration than WT germinate. Here, we show PHYTOCHROME INTERACTING FACTOR 3-LIKE 5 (PIL5) results in down-regulation DAG1. Inactivation PIL5 background further increased potential seeds,...
The aromatic compound p-cresol (4-methylphenol) has been found elevated in the urines of Italian autistic children up to 8 years age. present study aims at replicating these initial findings an ethnically distinct sample and extending them by measuring also three components urinary p-cresol, namely p-cresylsulfate, p-cresylglucuronate free p-cresol. Total p-cresylsulfate were significantly 33 French autism spectrum disorder (ASD) cases compared with sex- age-matched controls (p < 0.05). This...
The uremic toxin p ‐cresol (4‐methylphenol) is either of environmental origin or can be synthetized from tyrosine by cresol‐producing bacteria present in the gut lumen. Elevated amounts have been previously found urines Italian and French autism spectrum disorder (ASD) children up until 8 years age, may associated with severity intensity abnormal behaviors. This study aims to investigate mechanism producing elevated urinary ASD. Urinary levels were thus measured High Performance Liquid...
Rare and common CNVs can contribute to the etiology of neurodevelopmental disorders. One recurrent genomic aberrations associated with these phenotypes proposed as a susceptibility locus is 15q11.2 BP1-BP2 CNV encompassing TUBGCP5, CYFIP1, NIPA2, NIPA1. Characterizing by array-CGH cohort 243 families various disorders, we identified five patients carrying duplication one deletion. All were confirmed qPCR inherited, except for where parents not available. The phenotypic spectrum carriers was...
A novel 19.98-Mb duplication in chromosome Xp22.33p22.12 was detected by array CGH a 30-year-old man affected intellectual disability, congenital hypotonia and dysmorphic features. The encompasses more than 100 known genes. Many of these genes (such as neuroligin 4, cyclin-dependent kinase like 5, others) have already correlated with X-linked disability and/or neurodevelopmental disorders. Due to the high number potentially pathogenic involved reported duplication, we cannot correlate...
Elevated serotonin (5-HT) blood levels, the first biomarker identified in autism research, has been consistently found 20-30% of patients with Autism Spectrum Disorder (ASD). Hyperserotonemia is mainly due to greater 5-HT uptake into platelets, mediated by transporter (SERT) located at platelet plasma membrane. The protein complex involved SERT trafficking and externalization includes integrin β3, beta subunit membrane adhesive GP IIb/IIIa. Integrin β3 encoded ITGB3 gene, previously as a...
Organophosphate compounds (OPs) interfere with neurodevelopment and are neurotoxic for humans animals. They first biotransformed to the more toxic oxon form, then hydrolyzed specific metabolites by enzyme paraoxonase/arylesterase, encoded gene PON1 located on human chr. 7q21.3. In autism spectrum disorder (ASD) in attention-deficit/hyperactivity (ADHD), a correlation between OP exposure disease onset has been reported. this case-control study, we aimed replicate our previous work showing...