A5086898306- Multiple Sclerosis Research Studies
- RNA regulation and disease
- Metabolism and Genetic Disorders
- T-cell and B-cell Immunology
- Autoimmune Neurological Disorders and Treatments
- Immunotherapy and Immune Responses
- Polyomavirus and related diseases
- Bioinformatics and Genomic Networks
- Lysosomal Storage Disorders Research
- Neuroinflammation and Neurodegeneration Mechanisms
- Genetic Neurodegenerative Diseases
- Glycogen Storage Diseases and Myoclonus
- Amino Acid Enzymes and Metabolism
- Folate and B Vitamins Research
- Genomics and Chromatin Dynamics
- CNS Lymphoma Diagnosis and Treatment
- Inflammasome and immune disorders
- Bipolar Disorder and Treatment
- Kruppel-like factors research
- Metabolomics and Mass Spectrometry Studies
- Peripheral Neuropathies and Disorders
- Meningioma and schwannoma management
- Nerve injury and regeneration
- Gene expression and cancer classification
- Neurological diseases and metabolism
Istituti di Ricovero e Cura a Carattere Scientifico
2020-2024
Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele
2020-2024
Vita-Salute San Raffaele University
2021-2024
Neuroscience Institute
2022-2023
Ghent University Hospital
2019-2020
Rehabilitation is fundamental for progressive multiple sclerosis (MS), but predictive biomarkers of motor recovery are lacking, making patient selection difficult. Motor depends on synaptic plasticity, in which the Brain-Derived Neurotrophic Factor (BDNF) a key player, through its binding to Neurotrophic-Tyrosine Kinase-2 (NTRK2) receptor. Therefore, genetic polymorphisms BDNF pathway may impact recovery. The most well-known polymorphism gene (rs6265) causes valine methionine substitution...
Myo-inositol exerts many cellular functions, which include osmo-protection, membrane functioning, and secondary messaging. Its Na+/myo-inositol co-transporter SLC5A3 is expressed in muscle tissue further accumulates myositis. In this study we focused on the peculiar subgroup of sporadic inclusion body myositis (IBM), auto-inflammatory responses degenerative changes co-exist. A cohort nine patients was selected with clinically confirmed IBM, protein immune-localized to different constituents...
ABSTRACT Background Understanding the mechanisms underlying disease progression in Multiple Sclerosis (MS) is fundamental to pave way treatment advances. Smoldering demyelinating inflammation characterized by iron deposition observed at edges of chronic active lesions and represents a relevant substrate MS. However, influence genetic factors on these not known. Leveraging importance smoldering inflammation, we assessed whether variants genes belonging iron-related pathways affect Methods We...
<h3>Background and Objectives</h3> The major histocompatibility complex (MHC) locus has a predominant role in the genetic predisposition to multiple sclerosis (MS), with 32 associations found be involved. We aimed investigate impact of MHC MS-risk alleles on T-cell repertoire patients MS. <h3>Methods</h3> studied 161 untreated relapsing-remitting MS for whom Class I II human leukocyte antigen (HLA) were inferred from whole-genome genotyping data, receptor (TCR) CDR3 sequences obtained...
Multiple sclerosis (MS) is an inflammatory neurodegenerative disorder of the central nervous system (CNS). The migration immune cells into CNS essential for its development, and plasma membrane molecules play important role in triggering maintaining inflammation. We previously identified ninjurin2, a protein encoded by NINJ2 gene, as involved occurrence relapse under Interferon-β treatment MS patients. aim present study was to investigate involvement conditions monocytes through blood–brain...
Multiple sclerosis (MS) is a complex disease of the central nervous system for which human leukocyte antigen (HLA) alleles are major contributors to susceptibility. Several investigations have focused on relationship between HLA and clinical parameters, while few studies evaluated its correlation with brain magnetic resonance imaging (MRI) measures. We investigated association genetic burden (HLAGB), originating from most updated associated MS, neuroimaging endophenotypes, specific focus...
<h3>Objective:</h3> We investigated the impact of Single Nucleotide Polymorphisms (SNPs) in genes implicated iron metabolism on risk developing progressive MS. <h3>Background:</h3> Iron enrichment is a core feature chronic active lesions, key marker MS, and can be detected by magnetic resonance imaging. In parallel, molecular profile lesion-associated microglia supports relevance involved metabolism. However, it still unclear their role disease progression. <h3>Design/Methods:</h3> performed...
To perform a Genome-Wide Association Study (GWAS) to unravel possible genetic variants associated with disease activity (DA) in relapsing-remitting (RR) multiple sclerosis (MS) patients.