64 results match your criteria: "Genomic and Post-Genomic Center[Affiliation]"
Cell Stress Chaperones
November 2020
Centre for Neuroscience and Nanotechnology, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy.
Stress granules (SGs) are dynamic ribonucleoprotein granules induced by environmental stresses. They play an important role in the stress response by integrating mRNA stability, translation, and signaling pathways. Recent work has connected SG dysfunction to neurodegenerative diseases.
View Article and Find Full Text PDFCells
July 2020
Department of Biomedical and Clinical Sciences "L. Sacco", University of Milan, Via Grassi 74, 20157 Milan, Italy.
In the field of regenerative medicine applied to neurodegenerative diseases, one of the most important challenges is the obtainment of innovative scaffolds aimed at improving the development of new frontiers in stem-cell therapy. In recent years, additive manufacturing techniques have gained more and more relevance proving the great potential of the fabrication of precision 3-D scaffolds. In this review, recent advances in additive manufacturing techniques are presented and discussed, with an overview on stimulus-triggered approaches, such as 3-D Printing and laser-based techniques, and deposition-based approaches.
View Article and Find Full Text PDFNanomedicine
October 2020
Genomic and post-Genomic Center, IRCCS Mondino Foundation, Pavia, Italy. Electronic address:
Sporadic amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease for which there is no validated blood based biomarker. Extracellular vesicles (EVs) have the potential to solve this unmet clinical need. However, due to their heterogeneity and complex chemical composition, EVs are difficult to study.
View Article and Find Full Text PDFJ Vis Exp
June 2020
Department of Neurology and Neuropathology, Golgi-Cenci Foundation; Laboratory of Neurobiology and Neurogenetic, Golgi-Cenci Foundation; Department of Neuropsychology and Social Sciences, Golgi-Cenci Foundation.
In a constantly aging population, the prevalence of neurodegenerative disorders is expected to rise. Understanding disease mechanisms is the key to find preventive and curative measures. The most effective way to achieve this is through direct examination of diseased and healthy brain tissue.
View Article and Find Full Text PDFInt J Mol Sci
May 2020
Genomic and post-Genomic Center, IRCCS Mondino Foundation, Via Mondino 2, 27100 Pavia, Italy.
Neurodegenerative disorders (i.e., Alzheimer's disease, Parkinson's disease, amyotrophic lateral sclerosis, and spinal cord injury) represent a great problem worldwide and are becoming prevalent because of the increasing average age of the population.
View Article and Find Full Text PDFCells
March 2020
3D Bioprinting Center, Chalmers University of Technology, Arvid Wallgrens backe 20, 41346 Göteborg, Sweden.
We prepared cellulose nanofibrils-based (CNF), alginate-based and single-walled carbon nanotubes (SWCNT)-based inks for freeform reversible embedding hydrogel (FRESH) 3D bioprinting of conductive scaffolds. The 3D printability of conductive inks was evaluated in terms of their rheological properties. The differentiation of human neuroblastoma cells (SH-SY5Y cell line) was visualized by the confocal microscopy and the scanning electron microscopy techniques.
View Article and Find Full Text PDFAmyotroph Lateral Scler Frontotemporal Degener
February 2020
School of Medicine and Surgery and Milan Center for Neuroscience (NeuroMI), University of Milano-Bicocca, Monza, Italy.
: The demonstration that chaperone-mediated autophagy (CMA) contributes to the degradation of TDP-43, the main constituent of cytoplasmic inclusions typically found in motor neurons of patients with sporadic amyotrophic lateral sclerosis (sALS), has pointed out a possible involvement of CMA in aggregate formation. To explore this possibility, in this study, we verified the presence of a possible systemic CMA alteration in sALS patients and its effect on TDP-43 expression. : Gene and protein expression of the cytosolic chaperone HSC70 and the lysosome receptor LAMP2A, the two pivotal mediators of CMA, was assessed in peripheral blood mononuclear cells (PBMCs) derived from 30 sALS patients and 30 healthy controls.
View Article and Find Full Text PDFCells
August 2019
Genomic and post-Genomic Center, IRCCS Mondino Foundation, Via Mondino 2, 27100 Pavia, Italy.
Neurodegenerative diseases (NDs) are a broad class of pathologies characterized by the progressive loss of neurons in the central nervous system. The main problem in the study of NDs is the lack of an adequate realistic experimental model to study the pathogenic mechanisms. Induced pluripotent stem cells (iPSCs) partially overcome the problem, with their capability to differentiate into almost every cell types; even so, these cells alone are not sufficient to unveil the mechanisms underlying NDs.
View Article and Find Full Text PDFAgeing Res Rev
September 2019
Genomic and post-Genomic Center, IRCCS Mondino Foundation, Pavia, Italy.
Frailty is a complex geriatric syndrome associated with biological vulnerability to stressors and decreased physiological reserve. Its etiology and pathogenesis are not completely understood, although various causes and complex pathways have been proposed. Immune system alterations (immunosenescence and "InflammAging") have been suggested to contribute to frailty, but a precise causative role of such alterations remains to be determined.
View Article and Find Full Text PDFEMBO J
August 2019
Centre for Neuroscience and Nanotechnology, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy.
Nuclear protein aggregation has been linked to genome instability and disease. The main source of aggregation-prone proteins in cells is defective ribosomal products (DRiPs), which are generated by translating ribosomes in the cytoplasm. Here, we report that DRiPs rapidly diffuse into the nucleus and accumulate in nucleoli and PML bodies, two membraneless organelles formed by liquid-liquid phase separation.
View Article and Find Full Text PDFJ Clin Med
May 2019
Genomic and Post-Genomic Center, IRCCS Mondino Foundation, 27100 Pavia, Italy.
Aicardi-Goutières syndrome (AGS) is a genetically determined early onset encephalopathy characterized by cerebral calcification, leukodystrophy, and increased expression of interferon-stimulated genes (ISGs). Up to now, seven genes () have been associated with an AGS phenotype. Next Generation Sequencing (NGS) analysis was performed on 51 AGS patients and interferon signature (IS) was investigated in 18 AGS patients and 31 healthy controls.
View Article and Find Full Text PDFFront Neurosci
April 2019
Genomic and Post-Genomic Center, IRCCS Mondino Foundation, Pavia, Italy.
The lack of biomarkers in Amyotrophic Lateral Sclerosis (ALS) makes it difficult to determine the stage of the disease in patients and, therefore, it delays therapeutic trials. Microvesicles (MVs) are possible biomarkers implicated in physiological and pathological functions, however, their role in ALS remains unclear. We investigated whether plasma derived microvesicles could be overrepresented in a group of 40 patients affected by ALS compared to 28 Alzheimer's Disease (AD) patients and 36 healthy volunteers.
View Article and Find Full Text PDFEur J Paediatr Neurol
May 2019
Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy; Child and Adolescence Neurology Unit, IRCCS Mondino Foundation, Pavia, Italy.
Aim: The COL4A1 gene (13q34) encodes the α1 chain of type IV collagen, a crucial component of the basal membrane. COL4A1 mutations have been identified as a cause of a multisystem disease. Brain MRI in COL4A1-mutated patients typically shows vascular abnormalities and white matter lesions.
View Article and Find Full Text PDFSci Data
February 2019
Genomic and post-Genomic Center, IRCCS Mondino Foundation, Pavia, Italy.
Coding and long non-coding RNA (lncRNA) metabolism is now revealing its crucial role in Amyotrophic Lateral Sclerosis (ALS) pathogenesis. In this work, we present a dataset obtained via Illumina RNA-seq analysis on Peripheral Blood Mononuclear Cells (PBMCs) from sporadic and mutated ALS patients (mutations in FUS, TARDBP, SOD1 and VCP genes) and healthy controls. This dataset allows the whole-transcriptome characterization of PBMCs content, both in terms of coding and non-coding RNAs, in order to compare the disease state to the healthy controls, both for sporadic patients and for mutated patients.
View Article and Find Full Text PDFBrain Behav
March 2019
Pediatric Neurology Unit, "V. Buzzi" Hospital, Milan, Italy.
Introduction: Glucose Transporter Type I Deficiency Syndrome (GLUT1DS) classical symptoms are seizures, involuntary movements, and cognitive impairment but so far the literature has not devoted much attention to the last.
Methods: In our retrospective study involving 25 patients with established GLUT1DS diagnosis, we describe the cognitive impairment of these patients in detail and their response to the ketogenic diet in terms of cognitive improvement.
Results: We outlined a specific cognitive profile where performance skills were more affected than verbal ones, with prominent deficiencies in visuospatial and visuomotor abilities.
Medicine (Baltimore)
December 2018
Department of Clinical and Experimental Sciences, University of Brescia.
Tetraparesis is usually due to cerebral palsy (CP), inborn errors of metabolism, neurogenetic disorders and spinal cord lesions. However, literature data reported that about 10% of children with tetraparesis show a negative/non-specific neuroradiological findings without a specific etiological cause. Aicardi Goutières Syndrome (AGS) is a genetic encephalopathy that may cause tetraparesis.
View Article and Find Full Text PDFJ Clin Med
December 2018
Center for Neuromuscular Diseases, Unit of Neurology, ASST Spedali Civili and University of Brescia, 25100 Brescia, Italy.
encodes the heavy chain A of kinesin; A motor protein involved in motility functions within neuron. Mutations in the N-terminal motor domain are known to cause SPG10; An autosomal dominant hereditary spastic paraplegia (HSP), as well as rare Charcot-Marie-Tooth disease 2 (CMT2) cases. Recently C-terminal cargo-binding tail domain mutations have been associated with an amyotrophic lateral sclerosis (ALS) phenotype.
View Article and Find Full Text PDFFront Neurol
December 2018
Molecular Medicine, Pisa, Italy.
Hereditary spastic paraplegia (HSP) refers to a group of genetically heterogeneous neurodegenerative motor neuron disorders characterized by progressive age-dependent loss of corticospinal motor tract function, lower limb spasticity, and weakness. Recent clinical use of next generation sequencing (NGS) methodologies suggests that they facilitate the diagnostic approach to HSP, but the power of NGS as a first-tier diagnostic procedure is unclear. The larger-than-expected genetic heterogeneity-there are over 80 potential disease-associated genes-and frequent overlap with other clinical conditions affecting the motor system make a molecular diagnosis in HSP cumbersome and time consuming.
View Article and Find Full Text PDFFront Pharmacol
December 2018
Genomic and Post-Genomic Center, IRCCS Mondino Foundation, Pavia, Italy.
Alzheimer's disease (AD) is a chronic neurodegenerative disorder that is associated with the most common type of dementia and is characterized by the presence of deposits of the protein fragment amyloid beta (Aβ) in the brain. The natural product mixture of curcuminoids that improves certain defects in innate immune cells of AD patients may selectively enhance Aβ phagocytosis by alteration of gene transcription. In this work, we evaluated the protective effects of curcuminoids in cells from AD patients by investigating the effect on NF-κB and BACE1 signaling pathways.
View Article and Find Full Text PDFInt J Mol Sci
December 2018
Genomic and Post-Genomic Center, IRCCS Mondino Foundation, 27100 Pavia, Italy.
In the last decade, the advances made into the reprogramming of somatic cells into induced pluripotent stem cells (iPSCs) led to great improvements towards their use as models of diseases. In particular, in the field of neurodegenerative diseases, iPSCs technology allowed to culture in vitro all types of patient-specific neural cells, facilitating not only the investigation of diseases' etiopathology, but also the testing of new drugs and cell therapies, leading to the innovative concept of personalized medicine. Moreover, iPSCs can be differentiated and organized into 3D organoids, providing a tool which mimics the complexity of the brain's architecture.
View Article and Find Full Text PDFNoncoding RNA Res
December 2018
Genomic and Post-Genomic Center, IRCCS Mondino Foundation, Pavia, Italy.
Alterations in RNA metabolism play an important role in Amyotrophic Lateral Sclerosis (ALS) pathogenesis. The literature has described, so far, a small number of long non coding RNAs (lncRNAs) associated to ALS demonstrating that how there is still much to do to identify and understand their role in ALS. This class of RNAs may offer numerous starting points for new investigations about pathogenic mechanism involved in ALS disease.
View Article and Find Full Text PDFJ Neurol
December 2018
Neurology Unit, Department of Neuroscience and Sensory Organs, Maggiore Policlinico Hospital Foundation IRCCS Ca' Granda, Milan, Italy.
Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common familial cerebral small vessel disease, caused by NOTCH3 gene mutations. The aim of our study was to identify clinical and neuroradiological features which would be useful in identifying which patients presenting with lacunar stroke and TIA are likely to have CADASIL.
Methods: Patients with lacunar stroke or TIA were included in the present study.
Alzheimer Dis Assoc Disord
April 2020
Genomic and Post Genomic Center, IRCCS Mondino Foundation.
J Headache Pain
August 2018
IRCCS Mondino Foundation, Genomic and post-Genomic Center, Pavia, Italy.
Background: Familial hemiplegic migraine type 1 (FHM1) is a form of migraine with aura caused by heterozygous mutations in 4 genes: CACNA1A, ATP1A2, SNC1A and PRRT2, but further heterogeneity is expected. Here have been described clinical and molecular features in patients suffering from migraine with Aura (MA), without (MO) and hemiplegic migraine attacks. Next Generation Sequencing by TruSeq Custom Amplicon for CACNA1A and ATP1A2 gene has been performed.
View Article and Find Full Text PDFFront Neurosci
July 2018
Genomic and Post-Genomic Center, IRCCS Mondino Foundation, Pavia, Italy.