Research Interests: Cognitive Science, Neurology, Humans, Mutation, Female, and 7 moreMale, Skin, Clinical Sciences, Family Health, Adult, Presenilin-2, and Neurosciences
Research Interests:
Research Interests: Cognitive Science, Neurology, Magnetic Resonance Imaging, Adolescent, Transcription Factors, and 18 moreIntellectual Disability, Humans, Child, Genetic Testing, Mutation, Male, Pedigree, Phenotype, Clinical Sciences, Newborn Infant, Atrophy, Genotype, Basal ganglia, Alanine, Genetic Markers, Neurosciences, DNA mutational analysis, and Child preschool
Research Interests:
Research Interests: Genetics, Neurobiology Of Disease, Autism, Epilepsy, Adolescent, and 18 moreIntellectual Disability, Neurobiology, Molecular Mechanics, Mental Retardation, Humans, Child, Female, Male, Astrocyte, Young Adult, Autism Spectrum Disorder, Clinical Sciences, Neuronal Activity, Amino Acid Profile, Heterologous Expression, Neurosciences, Diagnostic Criteria, and Child preschool
Research Interests: Pediatrics, Treatment, Creatine, Magnetic Resonance Spectroscopy, Prevention, and 16 moreGene expression, Humans, Mutation, Inborn errors of metabolism, Male, Dietary Supplements, The, Mental Disorders, Phenotype, Newborn Infant, Time Factors, Breast feeding, Deficiency, Human Milk, Deficit, and Psychomotor Performance
Research Interests:
Research Interests:
Research Interests:
Research Interests: Family, Phonological processing, Italy, Humans, Child, and 16 moreGenetic Testing, Mutation, Female, Male, Temporal Lobe Epilepsy, Proteins, Pedigree, Phenotype, Epilepsia, Clinical Sciences, Adult, European Continental Ancestry Group, Neurosciences, Functional Laterality, Neuropsychological Tests, and DNA mutational analysis
Research Interests: Genetics, Electroencephalography, Mental Retardation, Brain, Humans, and 17 moreFemale, Male, Linkage, Genetic determinism, Pedigree, Phenotype, Genetic linkage analysis, Aged, Middle Aged, Magnetics, Family Health, Genotype, Adult, Reflex, Visual Evoked Potentials, Frequency Analysis, and Neuropsychological Tests
Research Interests: Magnetic Resonance Imaging, Membrane Trafficking, Adolescent, Hydrocephalus, Brain, and 17 moreHumans, Child, Mutation, Microcephaly, Female, Male, Fragile X Syndrome, Pedigree, Phenotype, Middle Aged, Genotype, Adult, Ehlers-Danlos Syndrome, Neuronal Migration, Birth Defect, Contractile Proteins, and Child preschool
Research Interests:
Research Interests:
Research Interests:
Research Interests: BASIC, Echocardiography, Cardiac Hypertrophy, Hypertension, Animals, and 13 moreMale, Rats, Myocardium, Left ventricular hypertrophy, Basic Cardiology, Angiotensin Converting Enzyme, Infarct Size, Spontaneously Hypertensive Rat, Angiotensin Converting Enzyme Inhibitors, ACE Inhibitor, Captopril, Cardiac function, and Myocardial Ischemia
Research Interests:
Post-ischemic reperfusion may result in reactive oxygen species (ROS) generation, reduced availability of nitric oxide (NO•), Ca(2+)overload, prolonged opening of mitochondrial permeability transition pore, and other processes... more
Post-ischemic reperfusion may result in reactive oxygen species (ROS) generation, reduced availability of nitric oxide (NO•), Ca(2+)overload, prolonged opening of mitochondrial permeability transition pore, and other processes contributing to cell death, myocardial infarction, stunning, and arrhythmias. With the discovery of the preconditioning and postconditioning phenomena, reperfusion injury has been appreciated as a reality from which protection is feasible, especially with postconditioning, which is under the control of physicians. Potentially cooperative protective signaling cascades are recruited by both pre- and postconditioning. In these pathways, phosphorylative/dephosphorylative processes are widely represented. However, cardioprotective modalities of signal transduction also include redox signaling by ROS, S-nitrosylation by NO• and derivative, S-sulfhydration by hydrogen sulfide, and O-linked glycosylation with beta-N-acetylglucosamine. All these modalities can interact and regulate an entire pathway, thus influencing each other. For instance, enzymes can be phosphorylated and/or nitrosylated in specific and/or different site(s) with consequent increase or decrease of their specific activity. The cardioprotective signaling pathways are thought to converge on mitochondria, and various mitochondrial proteins have been identified as targets of these post-transitional modifications in both pre- and postconditioning.
Research Interests:
Research Interests:
Research Interests:
DCX mutations cause mental retardation in male subjects with lissencephalypachygyria and in female subjects with subcortical band heterotopia (SBH). We observed four families in which carrier women had normal brain magnetic resonance... more
DCX mutations cause mental retardation in male subjects with lissencephalypachygyria and in female subjects with subcortical band heterotopia (SBH). We observed four families in which carrier women had normal brain magnetic resonance imaging (MRI) and mild mental retardation, with or without epilepsy. Affected male subjects had SBH or pachygyria-SBH. In two families, the phenotype was mild in both genders. In the first family, we found a tyr138his mutation that is predicted to result in abnormal folding in the small hinge region. In the second family, we found an arg178cys mutation at the initial portion of R2, in the putative beta-sheet structure. Carrier female subjects with normal MRI showed no somatic mosaicism or altered X-inactivation in lymphocytes, suggesting a correlation between mild mutations and phenotypes. In the two other families, with severely affected boys, we found arg76ser and arg56gly mutations within the R1 region that are predicted to affect DCX folding, severely modifying its activity. Both carrier mothers showed skewed X-inactivation, possibly explaining their mild phenotypes. Missense DCX mutations may manifest as non-syndromic mental retardation with cryptogenic epilepsy in female subjects and SBH in boys. Mutation analysis in mothers of affected children is mandatory, even when brain MRI is normal.