A5017741118- Ion channel regulation and function
- Electrolyte and hormonal disorders
- Neurogenetic and Muscular Disorders Research
- Neurological disorders and treatments
- Amyotrophic Lateral Sclerosis Research
- Cardiomyopathy and Myosin Studies
- Genetic Neurodegenerative Diseases
- Botulinum Toxin and Related Neurological Disorders
- Pain Mechanisms and Treatments
- T-cell and B-cell Immunology
- Hereditary Neurological Disorders
- Cancer-related molecular mechanisms research
- Ion Transport and Channel Regulation
- Immunotherapy and Immune Responses
- Immune Cell Function and Interaction
- Chronic Lymphocytic Leukemia Research
- Electrochemical Analysis and Applications
- Cardiac electrophysiology and arrhythmias
- Inflammatory Myopathies and Dermatomyositis
- Nanopore and Nanochannel Transport Studies
- MicroRNA in disease regulation
- Immunodeficiency and Autoimmune Disorders
- Drug Transport and Resistance Mechanisms
- RNA Interference and Gene Delivery
- Plant-based Medicinal Research
Fondazione IRCCS Istituto Neurologico Carlo Besta
2012-2022
Ospedale Valduce
2018
University of Milano-Bicocca
2010-2016
Institute of Neuroimmunology of the Slovak Academy of Sciences
2016
Institute of Neurological Sciences
2014
Bambino Gesù Children's Hospital
2014
University of Catania
2012
Istituti di Ricovero e Cura a Carattere Scientifico
2012
University of Siena
2010
Painful peripheral neuropathy often occurs without apparent underlying cause. Gain-of-function variants of sodium channel Na(v)1.7 have recently been found in ∼30% cases idiopathic painful small-fiber neuropathy. Here, we describe mutations Na(v)1.8, another that is specifically expressed dorsal root ganglion (DRG) neurons and nerve axons, patients with Seven Na(v)1.8 were identified 9 subjects within a series 104 predominantly Three met criteria for potential pathogenicity based on...
F. Orzan, S. Pellegatta, P. L. Poliani, Pisati, V. Caldera, Menghi, D. Kapetis, C. Marras, Schiffer and G. Finocchiaro (2011) Neuropathology Applied Neurobiology37, 381–394 Enhancer of Zeste 2 (EZH2) is up-regulated in malignant gliomas glioma stem-like cells Aims: Proteins the Polycomb repressive complex (PRC2) are epigenetic gene silencers involved tumour development. Their oncogenic function might be associated with their role stem cell maintenance. The histone methyltransferase a key...
// Maria Carmela Speranza 1,3 , Véronique Frattini Federica Pisati Dimos Kapetis 2 Paola Porrati 1 Marica Eoli Serena Pellegatta and Gaetano Finocchiaro Unit of Molecular Neuro-Oncology, Fondazione I.R.C.C.S. Istituto Neurologico C. Besta, Milan, Italy Bioinformatics, 3 Dept Experimental Oncology, Campus IFOM-IEO, Correspondence: Finocchiaro, email: Keywords : miR-145, NEDD9, invasion, progression, glioma, glioblastoma Received July 31, 2012, Accepted August 04, Published 05, 2012...
<h3>Objectives:</h3> Our aim was to conduct a comparative study in large cohort of myopathic patients carrying <i>LMNA</i> gene mutations evaluate clinical and molecular features associated with different phenotypes. <h3>Methods:</h3> We performed retrospective 78 mutation 30 familial cases without muscle involvement. analyzed characterizing the various forms <i>LMNA</i>-related myopathy through correlation statistics. <h3>Results:</h3> Of patients, 37 (47%) had limb-girdle muscular...
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by selective motor neuron degeneration in cortex, brainstem and spinal cord. microRNAs (miRNAs) are small non-coding RNAs that bind complementary target sequences modulate gene expression; they key molecules for establishing neuronal phenotype, neurodegeneration. Here we investigated neural miR-9, miR-124a, miR-125b, miR-219, miR-134, cell cycle-related miR-19a -19b, G93A-SOD1 mouse brain pre-symptomatic...
Abstract Presurgical monitoring with intracerebral electrodes in patients drug‐resistant focal epilepsy represents a standard invasive procedure to localize the sites of seizures origin, defined as epileptogenic zone (EZ). During presurgical evaluation, single‐pulse electrical stimulation (SPES) is performed define boundaries eloquent areas and evoke seizure‐associated symptoms. Extensive intracranial exploration generate large dataset on brain connectivity that can be used improve EZ...
Autophagy has a large range of physiological functions and its dysregulation contributes to several human disorders, including autoinflammatory/autoimmune diseases such as inflammatory myopathies (IIMs). In order better understand the pathogenetic mechanisms these muscular we sought define role autophagic processes their relation with innate immune system in three main subtypes IIM, specifically sporadic inclusion body myositis (sIBM), polymyositis (PM), dermatomyositis (DM) juvenile (JDM)....
Abcc3, a member of the ATP-binding cassette transporter superfamily, plays role in multidrug resistance. Here, we found that Abcc3 is highly expressed blood-derived NK cells but not CD8+ T cells. In GL261 glioma-bearing mice treated with alkylating agent temozolomide (TMZ) for 5 d, an early increased frequency was observed. We also strongly upregulated and functionally active from TMZ compared to controls. demonstrate critical cell survival during administration; more importantly, Akt,...
Class D beta-lactamases represent a heterogeneous group of active-site serine that show an extraordinary panel functional features and substrate profiles, thus representing relevant models for biochemical structural studies. OXA-46 is narrow-spectrum enzyme belonging to the OXA-2 subgroup which was found in Pseudomonas aeruginosa clinical isolate from northern Italy. In this work, we obtained three-dimensional structure OXA-46, shows overall fold active dimeric quaternary structure....
// Véronique Frattini 1,3 , Federica Pisati Maria Carmela Speranza Pietro Luigi Poliani 4 Gianmaria Frigé 3 Gabriele Cantini Dimos Kapetis 2 Manuela Cominelli Alessandra Rossi Gaetano Finocchiaro and Serena Pellegatta 1 Unit of Molecular Neuro-Oncology, Fondazione I.R.C.C.S. Istituto Neurologico C. Besta, Milan, Italy Service Bioinformatics, Department Experimental Oncology, European Institute Oncology - Campus IFOM-IEO, Pathology, University Brescia, Correspondence: Pellegatta, email:...
Abstract The authors have analyzed single nucleotide polymorphisms in the thiopurine S‐methyltransferase ( TPMT ) gene context of efficacy and toxicity azathioprine (AZA) to determine possible genotype‐phenotype correlations between allelic variants response AZA treatment 76 Italian patients with myasthenia gravis. They confirm known intronic exonic that do not correlate responses demonstrate a novel polymorphism patient intolerant AZA. Most importantly, they show 22 AZA‐intolerant patients,...
Tolerogenic dendritic cells (DCs) can induce regulatory T and dampen pathogenic cell responses. Therefore, they are possible therapeutic targets in autoimmune diseases. In this study we investigated whether mouse tolerogenic DCs induced by the phytonutrient carvacrol, a molecule with known anti-inflammatory properties, combination physiological stress. We show that treatment of carvacrol thermal stress led to mRNA expression both pro- mediators. Interestingly, treated mixed gene profile had...
Microarray platforms require analytical pipelines with modules for data pre-processing including normalization, statistical analysis identification of differentially expressed genes, cluster analysis, and functional annotation. We previously developed the Automated Data Analysis (AMDA, version 2.3.5) pipeline to process Affymetrix 3′ IVT GeneChips. The availability newer technologies that demand open-source tools microarray has impelled us develop an updated multi-platform version, AMDA...
Abstract Voltage-gated sodium channels (NavChs) are pore-forming membrane proteins that regulate the transport of ions through cell membrane. Understanding structure and function NavChs is major biophysical, as well clinical, importance given their key role in cellular pathophysiology. In this work, we provide a computational framework for modeling system-size-dependent, i.e., cumulative, atomic properties around NavCh’s pore. We illustrate our methodologies on bacterial NavAb channel...
We investigated the association of single nucleotide polymorphisms (SNPs) in drug-metabolizing enzymes and transporters (DMETs) with response to azathioprine (AZA) patients affected by myasthenia gravis (MG) determine possible genotype-phenotype correlations.Genomic DNA from 180 AZA-treated MG was screened through Affymetrix DMET platform, which characterizes 1931 SNPs 225 genes. The significant SNPs, identified be involved AZA response, were subsequently validated allelic discrimination...
Voltage-gated sodium channels (NavChs) are biological pores that control the flow of ions through cell membrane. In humans, mutations in genes encoding NavChs can disrupt physiological cellular activity thus leading to a wide spectrum diseases. Here, we present topological connection between functional architecture NavAb bacterial channel and accumulation atomic hydropathicity around its pore. This is established via scaling analysis methodology elucidates how intrachannel hydropathic...
Abstract Background Mutation-induced variations in the functional architecture of NaV1.7 channel protein are causally related to a broad spectrum human pain disorders. Predicting silico phenotype variant is major clinical importance; it can aid reducing costs vitro pathophysiological characterization variants, as well as, design drug agents for counteracting pain-disease symptoms. Results In this work, we utilize spatial complexity hydropathic effects toward predicting which variants cause...