Search Results - "Cognata, Valentina"
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The contribution of CNVs to the most common aging-related neurodegenerative diseases
Published in Aging clinical and experimental research (01-05-2021)“…Alzheimer and Parkinson’s diseases are neurodegenerative aging-related pathological conditions, mainly caused by the interplay of genetic and non-genetic…”
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Molecular mechanisms involved in the protective effect of pituitary adenylate cyclase‐activating polypeptide in an in vitro model of amyotrophic lateral sclerosis
Published in Journal of cellular physiology (01-04-2019)“…Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by the loss of upper and lower motor neurons. Based on transcriptional…”
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iPSCs: A Preclinical Drug Research Tool for Neurological Disorders
Published in International journal of molecular sciences (27-04-2021)“…The development and commercialization of new drugs is an articulated, lengthy, and very expensive process that proceeds through several steps, starting from…”
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Dental mesenchymal stem cells and neuro-regeneration: a focus on spinal cord injury
Published in Cell and tissue research (01-03-2020)“…Regenerative medicine is a branch of translational research that aims to reestablish irreparably damaged tissues and organs by stimulating the body’s own…”
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5
Nicotine promotes blood retinal barrier damage in a model of human diabetic macular edema
Published in Toxicology in vitro (01-10-2017)“…More than 1 billion world's population actively smokes tobacco containing the bioactive component nicotine (NT). The biological role of this molecule is…”
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Omics Data and Their Integrative Analysis to Support Stratified Medicine in Neurodegenerative Diseases
Published in International journal of molecular sciences (01-05-2021)“…Molecular and clinical heterogeneity is increasingly recognized as a common characteristic of neurodegenerative diseases (NDs), such as Alzheimer’s disease,…”
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Highlights on Genomics Applications for Lysosomal Storage Diseases
Published in Cells (Basel, Switzerland) (14-08-2020)“…Lysosomal storage diseases (LSDs) are a heterogeneous group of rare multisystem genetic disorders occurring mostly in infancy and childhood, characterized by a…”
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A Targeted Next-Generation Sequencing Panel to Genotype Gliomas
Published in Life (Basel, Switzerland) (24-06-2022)“…Gliomas account for the majority of primary brain tumors. Glioblastoma is the most common and malignant type. Based on their extreme molecular heterogeneity,…”
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Protective Role of Eicosapentaenoic and Docosahexaenoic and Their N -Ethanolamide Derivatives in Olfactory Glial Cells Affected by Lipopolysaccharide-Induced Neuroinflammation
Published in Molecules (Basel, Switzerland) (11-10-2024)“…Neuroinflammation is a symptom of different neurodegenerative diseases, and growing interest is directed towards active drug development for the reduction of…”
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A Comprehensive, Targeted NGS Approach to Assessing Molecular Diagnosis of Lysosomal Storage Diseases
Published in Genes (30-10-2021)“…With over 60 different disorders and a combined incidence occurring in 1:5000-7000 live births, lysosomal storage diseases (LSDs) represent a major public…”
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Dysregulated miRNAs as Biomarkers and Therapeutical Targets in Neurodegenerative Diseases
Published in Journal of personalized medicine (10-05-2022)“…Alzheimer's disease (AD), Parkinson's disease (PD), and Amyotrophic Lateral Sclerosis (ALS) are representative neurodegenerative diseases (NDs) characterized…”
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Increasing the Coding Potential of Genomes Through Alternative Splicing: The Case of PARK2 Gene
Published in Current genomics (01-06-2014)“…The completion of the Human Genome Project aroused renewed interest in alternative splicing, an efficient and widespread mechanism that generates multiple…”
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Design and Validation of a Custom NGS Panel Targeting a Set of Lysosomal Storage Diseases Candidate for NBS Applications
Published in International journal of molecular sciences (17-09-2021)“…Lysosomal storage diseases (LSDs) are a heterogeneous group of approximately 70 monogenic metabolic disorders whose diagnosis represents an arduous challenge…”
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NAP counteracts hyperglycemia/hypoxia induced retinal pigment epithelial barrier breakdown through modulation of HIFs and VEGF expression
Published in Journal of cellular physiology (01-02-2018)“…Diabetic macular edema (DME) is a common complication leading to a central vision loss in patients with diabetes. In this eye pathology, the…”
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Detection of Structural Variants by NGS: Revealing Missing Alleles in Lysosomal Storage Diseases
Published in Biomedicines (29-07-2022)“…Lysosomal storage diseases (LSDs) are a heterogeneous group of rare multisystem metabolic disorders occurring mostly in infancy and childhood, characterized by…”
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Alternative Splicing of ALS Genes: Misregulation and Potential Therapies
Published in Cellular and molecular neurobiology (01-01-2020)“…Neurodegenerative disorders such as amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), Parkinson’s, Alzheimer’s, and Huntington’s disease…”
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Copy Number Variations in Amyotrophic Lateral Sclerosis: Piecing the Mosaic Tiles Together through a Systems Biology Approach
Published in Molecular neurobiology (01-02-2018)“…Amyotrophic lateral sclerosis (ALS) is a devastating and still untreatable motor neuron disease. Despite the molecular mechanisms underlying ALS pathogenesis…”
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CXCR2 increases in ALS cortical neurons and its inhibition prevents motor neuron degeneration in vitro and improves neuromuscular function in SOD1G93A mice
Published in Neurobiology of disease (01-12-2021)“…Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disease characterized by depletion of motor neurons (MNs), for which effective medical…”
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Biocompatibility between Silicon or Silicon Carbide surface and Neural Stem Cells
Published in Scientific reports (08-08-2019)“…Silicon has been widely used as a material for microelectronic for more than 60 years, attracting considerable scientific interest as a promising tool for the…”
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Differential expression of PARK2 splice isoforms in an in vitro model of dopaminergic‐like neurons exposed to toxic insults mimicking Parkinson's disease
Published in Journal of cellular biochemistry (01-01-2018)“…Mutations in PARK2 (or parkin) are responsible for 50% of cases of autosomal‐recessive juvenile‐onset Parkinson's disease (PD). To date, 21 alternative splice…”
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