A5023161302- Connexins and lens biology
- Gut microbiota and health
- Neuroinflammation and Neurodegeneration Mechanisms
- Hearing, Cochlea, Tinnitus, Genetics
- Reproductive Biology and Fertility
- Animal Genetics and Reproduction
- CRISPR and Genetic Engineering
- Sperm and Testicular Function
- Tendon Structure and Treatment
- Neuroscience and Neuropharmacology Research
- Epigenetics and DNA Methylation
- Neuroendocrine regulation and behavior
- Amyotrophic Lateral Sclerosis Research
- Genetics, Aging, and Longevity in Model Organisms
- Animal testing and alternatives
- Tryptophan and brain disorders
- Nicotinic Acetylcholine Receptors Study
- Parkinson's Disease Mechanisms and Treatments
- Extracellular vesicles in disease
- Mitochondrial Function and Pathology
- Genetic Neurodegenerative Diseases
- Cellular Mechanics and Interactions
- Molecular Biology Techniques and Applications
- Biochemical Analysis and Sensing Techniques
- Cell Adhesion Molecules Research
Institute of Cell Biology and Neurobiology
2015-2025
National Research Council
2016-2024
European Molecular Biology Laboratory
2023-2024
Associazione Italiana per l'Agricoltura Biologica
2013
Unidades Centrales Científico-Técnicas
2009
Consejo Superior de Investigaciones Científicas
2009
University of Perugia
1970
Abstract Background Myotonic dystrophy type 1 (DM1) is a genetic multisystemic disease, characterised by pleiotropic symptoms that exhibit notable variability in severity, nature and age of onset. The cause DM1 the expansion unstable CTG‐repeats 3′ untranslated region (UTR) DMPK gene, resulting accumulation toxic CUG‐transcripts sequester RNA‐binding proteins form nuclear foci affected tissues and, consequently, alter various cellular processes. Therapeutic gene editing for treatment...
In amyotrophic lateral sclerosis (ALS), immune cells and glia contribute to motor neuron (MN) degeneration. We report the presence of NK in post-mortem ALS cortex spinal cord tissues, expression NKG2D ligands on MNs. Using a mouse model familial-ALS, hSOD1G93A, we demonstrate cell accumulation cord, with an early CCL2-dependent peak. depletion reduces pace MN degeneration, delays impairment increases survival. This is confirmed another model, TDP43A315T. are neurotoxic hSOD1G93A MNs which...
Abstract Microglia cells are active players in regulating synaptic development and plasticity the brain. However, how they influence normal functioning of synapses is largely unknown. In this study, we characterized effects pharmacological microglia depletion, achieved by administration PLX5622, on hippocampal CA3‐CA1 adult wild type mice. Following microglial observed a reduction spontaneous evoked glutamatergic activity associated with decrease dendritic spine density. We also appearance...
Abstract Microglia, the brain's resident macrophages, actively contribute to homeostasis of cerebral parenchyma by sensing neuronal activity and supporting synaptic remodeling plasticity. While several studies demonstrated different roles for astrocytes in sleep, contribution microglia regulation sleep/wake cycle modulation day phases has not been deeply investigated. Using light as a zeitgeber cue, we studied effects microglial depletion with colony stimulating factor‐1 receptor antagonist...
Background and aims Automated recording of laboratory animal's home cage behavior is receiving increasing attention since such non-intruding surveillance will aid in the unbiased understanding animal potentially improving experimental reproducibility. Material methods Here we investigate activity group held female C57BL/6J mice (mus musculus) housed standard Individually Ventilated Cages across three test-sites: Consiglio Nazionale delle Ricerche (CNR, Rome, Italy), The Jackson Laboratory...
Brain homeostasis needs continuous exchange of intercellular information among neurons, glial cells, and immune namely microglial cells. Extracellular vesicles (EVs) are active players this process. All the cells body, including brain, release at least two subtypes EVs, medium/large EVs (m/lEVs) small (sEVs). sEVs released by microglia play an important role in brain patrolling physio-pathological processes. One most common malignant forms cancer is glioblastoma. Altered communications...
Abstract Gut microorganisms and the products of their metabolism thoroughly affect host brain development, function behavior. Since alterations plasticity cognition have been demonstrated upon motor, sensorial social enrichment housing conditions, we hypothesized that gut microbiota metabolome could be altered by environmental stimuli, providing part missing link among signals effects. In this preliminary study, metagenomic metabolomic analyses mice housed in different standard enriched,...
Abstract In recent years, several studies described the close relationship between composition of gut microbiota and brain functions, highlighting importance gut-derived metabolites in mediating neuronal glial cells cross-talk physiological pathological condition. Gut dysbiosis may affects cerebral tumors growth progression, but specific involved this modulation have not been identified yet. Using a syngeneic mouse model glioma, we investigated role induced by administration non-absorbable...
Mutations in GJB2, the gene that encodes connexin 26 (Cx26), are most common cause of sensorineural hearing impairment. The truncating variant 35delG, which determines a complete loss Cx26 protein function, is prevalent GJB2 mutation several populations. Here, we generated and analyzed Gjb2
Genetic quality assurance (QA), including genetic monitoring (GeMo) of inbred strains and background characterization (BC) genetically altered (GA) animal models, should be an essential component any QA programme in laboratory facilities. control is as important for ensuring the validity model health microbiology are. It required that studies using rodents, mainly mice rats, utilize defined animals. This paper, presented by FELASA Working Group on Quality Assurance Monitoring Laboratory...
Abstract Extracellular vesicles (EVs) have become a key tool in the biotechnological landscape due to their well-documented ability mediate intercellular communication. This feature has been explored and is under constant investigation by researchers, who demonstrated important role of EVs several research fields ranging from oncology immunology diagnostics regenerative medicine. Unfortunately, there are still some limitations overcome before clinical application, including inability confine...
The impact of plastic fragments on human health is currently under investigation, with nanoplastics (NPs) being particularly concerning due to their small size. This allows them be inhaled, pass through blood barriers, and reach various organs. In this study, we evaluated the effects airborne NPs mouse olfactory system, which a primary target inhalation. Adult mice were exposed an aerosol solution containing synthetic polystyrene (PS-NPs) labelled red fluorophore for 5 h day over 7 days....
The use of genetically-modified (GM) animals as research models continues to grow. completion the mouse genome sequence, together with high-throughput international effort introduce mutations across in embryonic stem (ES) cells ( www.knockoutmouse.org ) facilitates an efficient way obtain mutated strains models. increasing number available and their combinations, complexity targeting approaches used, reinforces need for guidelines that will provide information about robust reliable methods...
Background: Mutations leading to changes in properties, regulation or expression of connexin–made channels have been implicated twenty-eight distinct human hereditary diseases. Eight these result from variants connexin 26 (Cx26), a protein critically involved cell-cell signaling the inner ear and skin. Lack non-toxic drugs with defined mechanisms action poses serious obstacle therapeutic interventions for diseases caused by mutant connexins. In particular, molecules that specifically...
Numerous currently incurable human diseases have been causally linked to mutations in connexin (Cx) genes. In several instances, pathological generate abnormally active Cx hemichannels, referred also as "leaky" hemichannels. The goal of this study was assay the vivo efficacy a potent antagonist antibody targeting
Amyotrophic Lateral Sclerosis (ALS) is a devastating neurodegenerative disease that affects both central and peripheral nervous system, leading to the degeneration of motor neurons, which eventually results in muscle atrophy, paralysis, death. Sleep disturbances are common patients with ALS, even further deteriorated quality life. Investigating methods potentially assess sleep rest animal models ALS thus crucial interest. We used an automated home cage monitoring system (DVC®) capture...
The laboratory mouse is the premier animal model for studying human disease and thousands of mutants have been identified or produced, most recently through gene-specific mutagenesis approaches. High throughput strategies by International Knockout Mouse Consortium (IKMC) are producing all protein coding genes. Generating a knock-out line involves huge monetary time costs so capture both data describing each mutant alongside archiving distribution to future researchers critical. European...
Using microfluidics, ATP biosensors, multiphoton microscopy and genetically targeted mice, we show that release through connexin hemichannels, not pannexin 1 channels, underlies spontaneous Ca<sup>2+</sup> wave propagation in the greater epithelial ridge of developing cochlea.
Odad3 gene loss-of-function mutation leads to Primary Ciliary Dyskinesia (PCD), a disease caused by motile cilia dysfunction. Previously, we demonstrated that knockout of the in mice replicates several features PCD, such as hydrocephalus, defects left–right body symmetry, and male infertility, with complete absence sperm reproductive tract. The majority animals die before sexual maturation due severe hydrocephalus failure thrive, which precludes fertility studies. Here, performed expression...
With the advent of modern developmental biology and molecular genetics, scientific community has generated thousands newly genetically altered strains laboratory mice with aim elucidating gene function. To this end, a large group Institutions which form International Mouse Phenotyping Consortium is generating phenotyping knockout mouse strain for each ~20,000 protein-coding genes using mutant ES cell resource produced by Knockout Consortium. These are made available to research via public...
Abstract The mechanisms leading to autoimmune and inflammatory diseases in the CNS have not been elucidated. environmental triggers of aberrant presence CD4+ T cells are known. In this article, we report that abnormal β-catenin expression drives a fatal neuroinflammatory disease mice is characterized by infiltration cells, glial activation, progressive loss motor function. We show enhanced leads Th1-biased cell integrin α4β1, activated into spinal cord, without affecting regulatory...
ADVERTISEMENT RETURN TO ISSUEPREVAddition/CorrectionNEXTORIGINAL ARTICLEThis notice is a correctionABHD2 Inhibitor Identified by Activity-Based Protein Profiling Reduces Acrosome ReactionMarc P. Baggelaar*Marc BaggelaarDepartment of Molecular Physiology, Leiden University, Einsteinweg 55, 2333 CC Leiden, The Netherlands*E-mail: [email protected]More Marc Baggelaarhttp://orcid.org/0000-0002-9784-6250, Hans den DulkHans DulkDepartment NetherlandsMore Dulk, Bogdan I. FloreaBogdan...