A5033472971- Amyotrophic Lateral Sclerosis Research
- Neurogenetic and Muscular Disorders Research
- RNA Research and Splicing
- Heme Oxygenase-1 and Carbon Monoxide
- Parkinson's Disease Mechanisms and Treatments
- Prion Diseases and Protein Misfolding
- Neurological diseases and metabolism
- Alzheimer's disease research and treatments
- Alcohol Consumption and Health Effects
- Eicosanoids and Hypertension Pharmacology
- Biochemical effects in animals
- RNA modifications and cancer
- Genetic Neurodegenerative Diseases
- Genomics, phytochemicals, and oxidative stress
- Ubiquitin and proteasome pathways
- Technology and Human Factors in Education and Health
- Metabolism and Genetic Disorders
- Cancer-related gene regulation
- Cannabis and Cannabinoid Research
- Human Health and Disease
- RNA regulation and disease
- Climate Change and Health Impacts
- Neuroinflammation and Neurodegeneration Mechanisms
- Curcumin's Biomedical Applications
- Alcoholism and Thiamine Deficiency
IRCCS Istituto Auxologico Italiano
2016-2025
Istituti di Ricovero e Cura a Carattere Scientifico
2015-2025
University of Milan
2008-2023
Ospedale Policlinico San Martino
2018
Ferrari (Italy)
2013-2016
West Virginia University
2002-2008
Blanchette Rockefeller Neurosciences Institute
2002-2008
University of Catania
2003-2006
New York Medical College
2003-2006
Johns Hopkins University
2002
Abstract Transactive response DNA‐binding protein 43 (TDP‐43) forms abnormal ubiquitinated and phosphorylated inclusions in brain tissues from patients with amyotrophic lateral sclerosis (ALS) frontotemporal lobar degeneration. TDP‐43 is a DNA/RNA‐binding involved RNA processing, such as transcription, pre‐mRNA splicing, mRNA stabilization transport to dendrites. We found that oxidative stress environmental insults of different types capable assemble into granules (SGs), ribonucleoprotein...
Spices and herbs often contain active phenolic substances endowed with potent antioxidative properties. We had previously shown that curcumin, the yellow pigment in curry, strongly induced HO-1 expression activity rat astrocytes. In CNS, has been reported to operate as a fundamental defensive mechanism for neurons exposed an oxidant challenge. Treatment of astrocytes curcumin upregulated protein at both cytoplasmic nuclear levels, by immunofluorescence analysis under laser-scanning confocal...
<h3>Background</h3> Mutations in the <i>FUS</i> gene have recently been discovered to be a major cause of familial amyotrophic lateral sclerosis (FALS). <h3>Objective</h3> To determine identity and frequency mutations large cohort Italian patients enriched sporadic cases (SALS). <h3>Methods</h3> Exons 5, 6, 14 15 were screened for 1009 (45 FALS 964 SALS). The genetic analysis was extended entire coding sequence all 293 SALS patients. <h3>Results</h3> Seven missense (p.G191S, p.R216C,...
Abstract Efficient functioning of maintenance and repair processes seem to be crucial for both survival physical quality life. This is accomplished by a complex network the so‐called longevity assurance processes, under control several genes termed vitagenes . These include members heat shock protein system, there now evidence that response contributes establishing cytoprotective state in wide variety human conditions, including inflammation, neurodegenerative disorders, aging. Among various...
Dysregulation of RNA metabolism represents an important pathogenetic mechanism in both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) due to the involvement DNA/RNA-binding proteins TDP-43 FUS and, more recently, C9ORF72. A potential link between dysregulation mitochondrial dysfunction is recently emerged disease models. To further investigate possible relationship these two mechanisms ALS/FTD, we studied mitochondria functionality human mutant TARDBP(p.A382T) C9ORF72...
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are fatal neurodegenerative diseases characterized by the presence of neuropathological aggregates phosphorylated TDP-43 (P-TDP-43) protein. The RNA-binding protein participates also to cell stress response forming granules (SG) in cytoplasm temporarily arrest translation. hypothesis that pathology directly arises from SG has been proposed but is still under debate because only sub-lethal conditions have tested...
In the CNS, heme oxygenase (HO) system has been reported to be active and operate as a fundamental defensive mechanism for neurons exposed an oxidant challenge. We have recently shown that both curcumin caffeic acid phenethyl ester, two phenolic natural compounds, potently induce HO-1 expression activity in rat astrocytes. extended our previous findings examining effects of other plant-derived with analogous chemical structures, astrocytes neurons. Ethyl ferulate (ethyl...
Alternative splicing of pre-mRNAs plays an important role in generating biological and functional diversity. Neuro-oncological ventral antigen 1 (Nova1) is a neuron-specific factor that controls the alternative processing wide array mRNAs for synaptic activity. It essential proper development mammalian motor system survival motoneurons. Because Nova1 gene contains putative regulatory AU-rich elements (ARE) its highly conserved 3'-untranslated region, we investigated whether expression...
Sorting of mRNAs in neuronal dendrites relies upon inducible transport mechanisms whose molecular bases are poorly understood. We investigated here the mechanism dendritic targeting rat Brain-derived neurotrophic factor (BDNF) as a paradigmatic example. BDNF encodes multiple with either short or long 3'UTR, both hypothesized to harbor signals. However, sorting two 3'UTR isoforms controversial. found that localization was induced by depolarization and NT3 vitro seizures vivo required CPEB-1,...
The nuclear RNA-binding protein TDP-43 forms abnormal cytoplasmic aggregates in the brains of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) patients several molecular mechanisms promoting mislocalization aggregation have been proposed, including defects nucleocytoplasmic transport, stress granules (SG) disassembly post-translational modifications (PTM). SUMOylation is a PTM which regulates variety cellular processes and, similarly to ubiquitination, targets lysine...
There is significant evidence to show that aging characterized by a stochastic accumulation of molecular damage and progressive failure maintenance repair processes. Protective mechanisms exist in the brain which are controlled vitagenes include members heat shock system, heme oxygenase-I, Hsp70 as critical determinants stress tolerance. Given broad cytoprotective properties response, molecules inducing this defense mechanism appear be possible candidates for novel strategies....
Increasing evidence supports the notion that reduction of cellular expression and activity antioxidant proteins resulting increase oxidative stress are fundamental causes in aging processes neurodegenerative diseases. In present study, we evaluated, brains young aged rats, gene profiles two inducible critically involved defense against endogenous or exogenous oxidants: heme oxygenase-1 (HO-1) manganese superoxide dismutase-2 (SOD-2). SOD-2 is an essential HO-1 has been reported to be very...
Amyotrophic lateral sclerosis (ALS) individuals carrying the hexanucleotide repeat expansion (HRE) in C9orf72 gene (C9Pos) have been described as presenting distinct features compared to general ALS population (C9Neg). We aim identify phenotypic traits more closely associated with HRE and analyse role of length a modifier factor.We studied cohort 960 patients (101 familial 859 sporadic cases). Motor phenotype was determined using MRC scale, lower motor neuron score (LMNS) Penn upper (PUMNS)....