A5070972359- Neuroinflammation and Neurodegeneration Mechanisms
- Retinal Diseases and Treatments
- Inflammation biomarkers and pathways
- Immune cells in cancer
- Genetics and Neurodevelopmental Disorders
- Zebrafish Biomedical Research Applications
- Morinda citrifolia extract uses
- Genomics and Rare Diseases
- Neuroscience and Neuropharmacology Research
- Organic Chemistry Cycloaddition Reactions
- Retinal Development and Disorders
- Genomic variations and chromosomal abnormalities
- Bioactive Compounds and Antitumor Agents
- RNA modifications and cancer
- Neonatal and fetal brain pathology
- Neurological Disease Mechanisms and Treatments
- RNA Research and Splicing
IRCCS Humanitas Research Hospital
2023-2025
Humanitas University
2020-2023
University of Ioannina
2022
University of Ferrara
2022
University of Milan
2019-2022
Imperial College London
2022
The Portland Hospital
2022
Neuronal circuit assembly requires the fine balance between synapse formation and elimination. Microglia, through elimination of supernumerary synapses, have an established role in this process. While microglial receptor TREM2 soluble complement proteins C1q C3 are recognized as key players, neuronal molecular components that specify synapses to be eliminated still undefined. Here, we show exposed phosphatidylserine (PS) represents a "eat-me" signal involved microglial-mediated pruning. In...
Triggering receptor expressed on myeloid cells 2 (Trem2) is a cell-specific gene in brain microglia, with variants that are associated neurodegenerative diseases, including Alzheimer's disease. Trem2 essential for microglia-mediated synaptic refinement, but whether contributes to shaping neuronal development remains unclear. Here, we demonstrate plays key role controlling the bioenergetic profile of pyramidal neurons during development. In absence Trem2, developing hippocampal cornus ammonis...
Mutations in the CDKL5 gene lead to an incurable rare neurological condition characterized by onset of seizures first weeks life and severe intellectual disability. Replacement or protein therapies could represent intriguing options, however, their application may be inhibited recent demonstration that is dosage sensitive. Conversely, correction approaches acting on pre-mRNA splicing would preserve physiological regulation. Since ~15% pathogenic mutations are candidates affect splicing, we...
Abstract Neuronal circuits assembly requires the fine equilibrium between synapse formation and elimination. Microglia, through elimination of supernumerary synapses, have an established role in this process. While microglial receptor TREM2 soluble complement proteins C1q C3 are recognized key players process, neuronal molecular components that tag synapses to be eliminated still undefined. Here we show exposed phosphatidylserine (PS) represents a ‘eat-me’ signal enabling microglial-mediated...
CDKL5 deficiency disorder (CDD) is a neurodevelopmental encephalopathy characterized by early-onset epilepsy and impaired psychomotor development. Variations in the X-linked gene coding for kinase cause CDD. Molecular genetics has proved that almost all pathogenic missense substitutions localize N-terminal catalytic domain, therefore underlining importance brain development functioning of activity. also features long C-terminal domain acts as negative regulator enzymatic activity modulates...