A5073380004- Hereditary Neurological Disorders
- Neurogenetic and Muscular Disorders Research
- Neurological diseases and metabolism
- Cerebrovascular and genetic disorders
- Amyotrophic Lateral Sclerosis Research
- Genetic Neurodegenerative Diseases
- RNA regulation and disease
- RNA modifications and cancer
- Cardiomyopathy and Myosin Studies
- Cell Adhesion Molecules Research
- Epigenetics and DNA Methylation
- Mitochondrial Function and Pathology
- Neuroscience and Neuropharmacology Research
- Muscle Physiology and Disorders
- Cellular transport and secretion
- Neurofibromatosis and Schwannoma Cases
- RNA and protein synthesis mechanisms
- Botulinum Toxin and Related Neurological Disorders
- Extracellular vesicles in disease
- Single-cell and spatial transcriptomics
- Ion channel regulation and function
- Cancer-related gene regulation
- Genetics and Neurodevelopmental Disorders
- Epilepsy research and treatment
- Cancer Genomics and Diagnostics
Institute for Biomedical Research and Innovation
2020-2025
National Research Council
2014-2025
Institute of Neurological Sciences
2008-2019
Cedars-Sinai Medical Center
2016
Magna Graecia University
2016
National Academies of Sciences, Engineering, and Medicine
2008-2014
University of Messina
2009-2012
Dr. John T. Macdonald Foundation
2010
University of Miami
2010
Neurodegenerative diseases are progressive disorders that affect the central nervous system (CNS) and represent major cause of premature death in elderly. One possible determinants neurodegeneration is change mitochondrial function content. Altered levels DNA copy number (mtDNA-CN) biological fluids have been reported during both early stages progression diseases. In patients affected by neurodegenerative diseases, changes mtDNA-CN appear to correlate with dysfunction, cognitive decline,...
Extracellular vesicles (EVs) contain a wide range of RNA types with reported prevalence non-coding RNA. To date comprehensive characterization the protein coding transcripts in EVs is still lacking. We performed RNA-Sequencing (RNA-Seq) 2 EV populations and identified small fraction that were expressed at significantly different levels large oncosomes exosomes, suggesting they may mediate specialized functions. However, these exhibited common mRNA signature that, comparison to their donor...
Temporal lobe epilepsy is the most common form of focal epilepsy, often associated with cognitive impairments, particularly in memory functions, and depression. Sex APOE ε4 genotype play a crucial role modulating outcomes depression various neurological conditions like Alzheimer's disease. However, combined effects sex on performance temporal have not been previously investigated. This study aims to (i) identify impaired clinically relevant depression; (ii) explore interaction between...
McCorquodale DS III, Ozomaro U, Huang J, Montenegro G, Kushman A, Citrigno L, Price Speziani F, Pericak-Vance MA, Züchner S. Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia. Hereditary paraplegia (HSP) comprises a group clinically genetically heterogeneous diseases that affect the upper motor neurons their axonal projections. Over 40 chromosomal loci have been identified for autosomal dominant, recessive, X-linked HSP. Mutations genes spastin are estimated...
Abstract CADASIL is a cerebrovascular disease caused by mutations in the NOTCH3 gene. Most result gain or loss of cysteine residue one 34 epidermal growth factor‐like repeats extracellular domain Notch3 protein, thus sparing number residues. To date, more than 130 different gene have been reported patients, which 95% are missense point mutations. Many polymorphisms also identified coding sequence, some them leading to amino acid substitutions. The aim present study was analyze large group...
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have recently been reported patients with severe neurodevelopmental disorder characterized by early-onset seizures, infantile spasms, psychomotor impairment and very recently, Rett syndrome (RTT)-like phenotype. Although involvement of CDKL5 specific biological pathways its role not completely elucidated, appears to be physiologically related MECP2 gene. Here we report on clinical molecular investigation a unusual RTT...
Over the last decades, exuberant development of next-generation sequencing has revolutionized gene discovery. These technologies have boosted mapping single nucleotide polymorphisms (SNPs) across human genome, providing a complex universe heterogeneity characterizing individuals worldwide. Fractal dimension (FD) measures degree geometric irregularity, quantifying how "complex" self-similar natural phenomenon is. We compared two FD algorithms, box-counting (BCD) and Higuchi's fractal (HFD),...
In the last decade, extensive efforts have been made to identify biomarkers of biological age. DNA methylation levels ELOVL fatty acid elongase 2 (ELOVL2) and signal joint T-cell receptor rearrangement excision circles (sjTRECs) represent most promising candidates. Although these two non-redundant echo important aspects ageing process in humans, a well-validated molecular clock exploiting powerful candidates has not yet formulated. The present study aimed develop more accurate sample 194...
Mitochondrial DNA (mtDNA) is a 16,569 base pairs, double-stranded, circular molecule that contains 37 genes coding for 13 subunits of the respiratory chain plus 2 rRNAs and 22 tRNAs. Mutations in these have been identified patients with variety disorders affecting every system body. The advent next generation sequencing technologies has provided possibility to perform whole mitochondrial sequencing, allowing identification disease-causing pathogenic variants single platform. In this study,...
Mutations in the DYSF gene, encoding dysferlin, are responsible for Limb Girdle Muscular Dystrophy type R2/2B (LGMDR2/2B), Miyoshi myopathy (MM), and Distal Myopathy with Anterior Tibialis onset (MDAT). The size of gene reported inter intra familial phenotypic variability make early diagnosis difficult. Genetic analysis was conducted using Next Gene Sequencing (NGS), a panel 40 Dystrophies associated genes we designed. In present study, report new missense variant c.5033G>A, p.Cys1678Tyr...
The distal hereditary motor neuropathy (dHMN) is a rare genetically and clinically heterogeneous disorder characterized by weakness wasting of limb muscles in absence overt sensory abnormalities. Recently, pyramidal signs have been also described some patients with dominant or recessive dHMN, two different loci identified families affected dHMN complicated dysfunction. We investigated an Italian family autosomal order to map new gene locus. disease maps novel locus 26‐cM region flanked...
CADASIL (OMIM 125310) is an increasingly recognised adult-onset autosomal-dominant vascular disease that characterised by recurrent transient ischaemic attacks and strokes (43% of patients), dementia (6%), migraine with aura (40% patients) psychiatric disturbances (9% patients); epilepsy has been reported in 2–10% subjects.1 All patients revealed prominent signal abnormalities on brain magnetic resonance imaging (MRI)—leukoencephalopathy T2- small subcortical infarcts T1-weighted...
Mutations in the Cu/Zn superoxide dismutase 1 (SOD1) gene have been reported to cause adult-onset autosomal dominant amyotrophic lateral sclerosis (FALS). In sporadic cases (SALS), de novo mutations SOD1 occasionally observed. All are dominantly inherited with exception of D90A. To date, Italy, only two ALS carrying D90A mutation a homozygous state. We investigated for presence this 169 unrelated patients from southern Italy. The genetic analysis revealed three (1.8%) mild phenotype mutation.