A5042854343- Alzheimer's disease research and treatments
- Amyotrophic Lateral Sclerosis Research
- Dementia and Cognitive Impairment Research
- Parkinson's Disease Mechanisms and Treatments
- Cholinesterase and Neurodegenerative Diseases
- Trace Elements in Health
- S100 Proteins and Annexins
- Neurological diseases and metabolism
- Neuroinflammation and Neurodegeneration Mechanisms
- Extracellular vesicles in disease
- Cerebrovascular and genetic disorders
- Folate and B Vitamins Research
- Neuroscience and Neuropharmacology Research
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Toxoplasma gondii Research Studies
- Metabolomics and Mass Spectrometry Studies
- Historical and Environmental Studies
- Cardiovascular Health and Disease Prevention
- Rabies epidemiology and control
- Mitochondrial Function and Pathology
- Peroxisome Proliferator-Activated Receptors
- Craniofacial Disorders and Treatments
- Computational Drug Discovery Methods
- Barrier Structure and Function Studies
- Prion Diseases and Protein Misfolding
Centro San Giovanni di Dio Fatebenefratelli
2006-2018
Istituti di Ricovero e Cura a Carattere Scientifico
2006-2011
Objective Meta‐analyses show that nonbound ceruloplasmin (non‐Cp) copper (also known as free or labile copper) in serum is higher patients with Alzheimer disease (AD). It differentiates subjects mild cognitive impairment (MCI) from healthy controls. However, a longitudinal study on an MCI cohort has not yet been performed to assess the accuracy of non‐Cp for prediction conversion AD during long‐term follow‐up. Methods The included 42 converters and 99 stable subjects. We assessed levels...
<i>Background:</i> Recently, attention was drawn to a role for progranulin in the central nervous system with identification of mutations gene <i>(GRN)</i> as an important cause frontotemporal lobar degeneration. <i>GRN</i> are associated strong reduction circulating and widely variable clinical phenotypes: thus, dosage plasma is useful tool quick inexpensive large-scale screening carriers <i>GRN </i>mutations. <i>Objective:</i> To...
Abstract Protein misfolding and aggregation is a central feature of several neurodegenerative disorders including Alzheimer’s disease (AD), in which assemblies amyloid β (Aβ) peptides accumulate the brain form parenchymal and/or vascular amyloid. A widely accepted concept that AD characterized by distinct clinical neuropathological phenotypes. Recent studies revealed Aβ might have structural differences among brains such pleomorphic can correlate with We found both sporadic inherited forms...
One of the earliest pathological features characterizing Alzheimer's disease (AD) is loss dendritic spines. Among many factors potentially mediating this neuronal connectivity, contribution Rho-GTPases particular interest. This family proteins has been known for years as a key regulator actin cytoskeleton remodeling. More recent insights have indicated how its complex signaling might be triggered also in conditions. Here, we showed that Rho-GTPase member Rac1 levels decreased frontal cortex...
Expansion of a hexanucleotide repeat in the C9ORF72 gene has been identified as most common pathogenic mutation families with autosomal dominant frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis. Herein we investigated
Frontotemporal dementia (FTD) is a heterogeneous disease both at the clinical, genetic, and pathobiological level. The underlying pathological spectrum (termed FTLD, frontotemporal lobar degeneration) in most cases defined by accumulation of either tau (FTLD-tau) or TDP-43 proteins (FTLD-TDP). Biomarkers to differentiate these subtypes are not yet available, whereas essential requirements study natural course for homogeneous inclusion patients clinical studies.To if combination total (t-)...
Mild alterations in cognitive function are present normal aging and severe a hallmark of Alzheimer's disease (AD). Cognitive deficits prevalent patients with schizophrenia (SCZ) worsen old age. We recently reported that elderly SCZ show reduced levels amyloid-beta (Aβ)1-42 cerebrospinal fluid (CSF). To further clarify the role Aβ decline, we analyzed whole panel CSF isoforms as well sporadic AD using SELDI TOF MS. The immunoproteomic study revealed, all samples, presence 15 different...
Although Alzheimer's disease (AD) is usually sporadic, in a small proportion of cases it familial and can be linked to mutations β-amyloid precursor protein (APP). Unlike the other genetic defects, mutation [alanine-673→valine-673] (A673V) causes only homozygous condition with enhanced amyloid β (Aβ) production aggregation; heterozygous carriers remain unaffected. It not clear how misfolding aggregation Aβ affected vivo by this whether correlates its toxic effects. No animal models...
A novel missense mutation (T719P) in the amyloid-β protein precursor (AβPP) gene was discovered a 46-year old patient affected by early onset familial Alzheimer's disease. Using surface enhanced laser desorption/ionization mass spectrometry (SELDI
The aim of the present work was to set up an optimized protocol for human cerebrospinal fluid amyloid-β (Aβ) profiling.We devised immunoproteomic assay that employs monoclonal antibodies (mAbs) on Preactivated Surface (PS20) chip array followed by SELDI TOF MS. A comparison a number factors performed, and impact these differences noted. Each variable tested using in parallel two different mAbs, 6E10 4G8. In addition, we whether combined use mAbs could improve capture N C-terminally truncated...
Mutations in the progranulin gene (GRN) were first implicated frontotemporal lobar degeneration 2006. The GRN p.Leu271LeufsX10 mutation is one of most common mutations worldwide. To gain further insight into origin this Italy, we performed a haplotype sharing analysis (32 families, residents Lombardy) and refined dating. We showed that almost all families (30/32) can be traced to single founder. estimated age using different methods population growth rates both for Italy Lombardy. Using...
The term frontotemporal lobar degeneration (FTLD) defines a group of heterogeneous conditions histologically characterized by neuronal degeneration, inclusions various proteins, and synaptic loss. However, the molecular mechanisms contributing to these alterations are still unknown. As Rho-GTPase family member Cell division cycle 42 (Cdc42) plays key role in regulation actin cytoskeleton dynamics spine formation, we investigated whether Cdc42 protein levels were altered disease. was...
Gagliardi, Stella PhD; Davin, Annalisa MSc; Bini, Paola MD; Sinforiani, Elena Poloni, Tino E. Polito, Letizia Rivoiro, Chiara Binetti, Giuliano Paterlini, Anna Benussi, Luisa Ghidoni, Roberta Vanacore, Nicola Cereda, Cristina PhD Author Information
The discovery that mutations in the gene encoding for progranulin (GRN) cause frontotemporal lobar degeneration (FTLD) and other neurodegenerative diseases leading to dementia has brought renewed interest its functions centr
Cerebrospinal fluid (CSF) biomarkers have been extensively investigated in the Alzheimer’s disease (AD) field, and are now being applied clinical practice. CSF amyloid-beta (Aβ1–42), total tau (t-tau), phosphorylated (p-tau) reflect pathology, may be used as quantitative trai ts for genetic analyses, fostering identification of new factors proposal novel biological pathways disease. In patients, concentration Aβ1–42 is decreased due to accumulation amyloid plaques brain, while t-tau p-tau...