A5086715729- Parkinson's Disease Mechanisms and Treatments
- Autophagy in Disease and Therapy
- Genetic Neurodegenerative Diseases
- Cystic Fibrosis Research Advances
- Genomics and Rare Diseases
- Neurological diseases and metabolism
- Amyotrophic Lateral Sclerosis Research
- Multiple Sclerosis Research Studies
- Cellular transport and secretion
- RNA Research and Splicing
- Genetics and Neurodevelopmental Disorders
- Alzheimer's disease research and treatments
- Genomic variations and chromosomal abnormalities
- RNA regulation and disease
- Neurogenetic and Muscular Disorders Research
- Neonatal Respiratory Health Research
- Epigenetics and DNA Methylation
- Mitochondrial Function and Pathology
- Hereditary Neurological Disorders
- Neurogenesis and neuroplasticity mechanisms
- Cerebrovascular and genetic disorders
- Nuclear Receptors and Signaling
- Nerve injury and regeneration
- Rheumatoid Arthritis Research and Therapies
- Histone Deacetylase Inhibitors Research
Istituto Neurologico Mediterraneo
2015-2024
University of Urbino
2020-2024
Istituti di Ricovero e Cura a Carattere Scientifico
2016
University of Rome Tor Vergata
2004-2011
Fondazione Roma
2010-2011
Policlinico Tor Vergata
2010
Alliance Bioversity International - CIAT
2010
Istituto di Genetica Molecolare
2005
Abstract Background Parkinson’s disease (PD) is a neurodegenerative movement disorder affecting 1–5% of the general population for which neither effective cure nor early diagnostic tools are available that could tackle pathology in phase. Here we report multi-stage procedure to identify candidate genes likely involved etiopathogenesis PD. Methods The study includes discovery stage based on analysis whole exome data from 26 dominant late onset PD families, validation performed 1542...
Abstract Background As gene‐targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction the estimated number subjects with monogenic PD worldwide currently represented in literature availability clinical data trial‐ready cohorts limited. Objective The objectives to (1) establish an international cohort affected unaffected individuals PD‐linked variants;...
MicroRNAs are highly conserved, noncoding RNAs involved in post-transcriptional gene silencing. They have been shown to participate a wide range of biological processes, including myogenesis and muscle regeneration. The goal this study is test the hypothesis that myo-miRs (myo = + miR miRNA) expression altered from patients affected by myotonic dystrophy type 1 (DM1), most frequently inherited neuromuscular disease adults. In order gain better insights about role miRNAs DM1 pathogenesis, we...
Angiotensin-converting enzyme 2 (ACE2) has been recognized as the entry receptor of novel severe acute respiratory syndrome coronavirus (SARS-Cov-2). Structural and sequence variants in ACE2 gene may affect its expression different tissues determine a differential response to SARS-Cov-2 infection COVID-19-related phenotype. The present study investigated genetic variability terms single nucleotide (SNVs), copy number variations (CNVs), quantitative loci (eQTLs) cohort 268 individuals...
To assess specific etiologies of acute recurrent pancreatitis at a single Italian pediatric cystic fibrosis (CF) center.We studied, retrospectively, 78 young patients (39 female subjects; mean age diagnosis, 8.8 ± 5.1 years) affected by episodes pancreatitis, remained etiologically undiagnosed first-level assessment. All were submitted to endoscopic retrograde cholangiopancreatography exclude biliopancreatic malformations and tested for CF sweat chloride test. Most also studied the research...
Given the heterogeneous nature of frontotemporal dementia (FTD), sensitive biomarkers are greatly needed for accurate diagnosis this neurodegenerative disorder. Circulating miRNAs have been reported as promising disorders and processes affecting central nervous system, especially in aging. The objective study was to evaluate if some circulating linked with apoptosis (miR-29b-3p, miR-34a-5p, miR-16-5p, miR-17-5p, miR-107, miR-19b-3p, let-7b-5p, miR-26b-5p, 127-3p) were able distinguish...
Background . Parkinson’s disease (PD) is mostly characterized by alpha-synuclein ( SNCA ) aggregation and loss of nigrostriatal dopamine-containing neurons. In this study a novel multiplication described in two siblings affected severe parkinsonism featuring early onset dyskinesia, psychiatric symptoms, cognitive deterioration. Methods dosage was performed using High-Density Comparative Genomic Hybridization Array (CGH-Array), Multiple Ligation Dependent Probe Amplification (MLPA),...
High repeat expansion (HRE) alleles in
Protein clearing pathways named autophagy (ATG) and ubiquitin proteasome (UP) control homeostasis within eukaryotic cells, while their dysfunction produces neurodegeneration. These are viewed as distinct biochemical cascades occurring specific cytosolic compartments owing pathway-specific enzymatic activity. Recent data strongly challenged the concept of two morphologically functionally segregated compartments. In fact, preliminary evidence suggests convergence these to form a novel...
Glioblastoma (GBM) cells feature mitochondrial alterations, which are documented and quantified in the present study, by using ultrastructural morphometry. Mitochondrial impairment, roughly occurs half of organelles, is shown to be related mTOR overexpression autophagy suppression. The novelty study consists detailing an mTOR-dependent mitophagy occlusion, along with suppression fission. These phenomena contribute explain increase altered mitochondria reported here. Administration inhibitor...
Treacher Collins syndrome (TCS) is one of the most severe autosomal dominant congenital disorders craniofacial development and shows variable phenotypic expression. TCS extremely rare, occurring with an incidence 1 in 50.000 live births. The distinguishing characteristics are represented by down slanting palpebral fissures, coloboma eyelid, micrognathia, microtia other deformity ears, hypoplastic zygomatic arches, macrostomia. Conductive hearing loss cleft palate often present. results from...
Methamphetamine (Meth) produces a variety of epigenetic effects in the brain, which are seminal to establish long-lasting alterations neuronal activity. However, most changes were described by measuring rough amount either histone acetylation and methylation or direct DNA methylation, without focusing on specific sequence. This point is key comprehend Meth-induced phenotypic changes, brain plasticity, addiction neurodegeneration. In this research paper we analyze persistence striatal...
Exposure to loud noise is a major environmental threat public health. Loud exposure, apart from affecting the inner ear, deleterious for cardiovascular, endocrine and nervous systems it associated with neuropsychiatric disorders. In this study we investigated DNA, neurotransmitters immune-histochemical alterations induced by exposure in three brain areas (cerebellum, hippocampus, striatum) of Wistar rats. Rats were exposed (100 dBA) 12 h. The effects on DNA integrity all evaluated using...