A5052872216- Lysosomal Storage Disorders Research
- Axon Guidance and Neuronal Signaling
- Neurogenesis and neuroplasticity mechanisms
- Zebrafish Biomedical Research Applications
- Cellular transport and secretion
- Trypanosoma species research and implications
- Pancreatic function and diabetes
- Genomics, phytochemicals, and oxidative stress
- Aquaculture disease management and microbiota
- Physiological and biochemical adaptations
- Protein Tyrosine Phosphatases
- CRISPR and Genetic Engineering
- Calcium signaling and nucleotide metabolism
- Cytokine Signaling Pathways and Interactions
- Reproductive System and Pregnancy
- MicroRNA in disease regulation
- Stress Responses and Cortisol
- Hormonal Regulation and Hypertension
University of Padua
2021-2024
Greenwood Genetic Center
2024
Città della Speranza Foundation
2021-2023
The Hsd11b2 enzyme converts cortisol into its inactive form, cortisone and regulates levels, in particular response to stress. Taking advantage of CRISPR/Cas9 technology, we generated a hsd11b2 zebrafish mutant line evaluate the involvement this gene stress regulation. absence functional affects survival zebrafish, although homozygous hsd11b2−/− mutants can reach adulthood. Reproductive capability adult males is almost completely abrogated, while that females reduced. Interestingly, basal...
Among multiple cytoprotective mechanisms, eukaryotic cells exhibit a complex transcriptional program relying on the Nrf2 transcription factor, which is generally recruited upon biological stressors including oxidative-stress-based cellular insults. The relevance of this master regulator has remarkably emerged in recent years several research fields such as cancer, inflammatory disorders and age-related neurological diseases. Here, we document generation characterization novel Nrf2/ARE...
Glucocorticoids mainly exert their biological functions through cognate receptor, encoded by the
Multiple complex intracellular cascades contributing to Hunter syndrome (mucopolysaccharidosis type II) pathogenesis have been recognized and documented in the past years. However, hierarchy of early cellular abnormalities leading irreversible neuronal damage is far from being completely understood. To tackle this issue, we generated two novel iduronate-2-sulfatase (IDS) loss function human cell lines by means genome editing. We show that both exhibit no enzymatic activity increased GAG...
Abstract Most of the patients affected by neuronopathic forms Mucopolysaccharidosis type II (MPS II), a rare lysosomal storage disorder caused defects in iduronate-2-sulfatase (IDS) activity, exhibit early neurological associated with white matter lesions and progressive behavioural abnormalities. While neuronal degeneration has been largely described experimental models human patients, more subtle pathogenic remain still underexplored. In this work, we discovered that axon guidance receptor...
<title>Abstract</title> Most patients affected by neuronopathic forms of Mucopolysaccharidosis type II (MPS II), a rare lysosomal storage disorder, exhibit early neurological defects associated with white matter lesions and progressive behavioural abnormalities. While neuronal degeneration has been largely described in experimental models human patients, more subtle pathogenic remains still underexplored. In this work we discovered that the axon guidance receptor Deleted Colorectal Cancer...