A5019494369- Advanced biosensing and bioanalysis techniques
- Cystic Fibrosis Research Advances
- Cell Adhesion Molecules Research
- CRISPR and Genetic Engineering
- RNA Research and Splicing
- Virus-based gene therapy research
- Cancer-related molecular mechanisms research
- Congenital heart defects research
- Renal and related cancers
- CAR-T cell therapy research
- Zebrafish Biomedical Research Applications
- Cytomegalovirus and herpesvirus research
- Immune Cell Function and Interaction
- Pharmaceutical studies and practices
- Legume Nitrogen Fixing Symbiosis
- T-cell and B-cell Immunology
- Immunodeficiency and Autoimmune Disorders
- Neonatal Respiratory Health Research
University of Milano-Bicocca
2022-2024
The San Raffaele Telethon Institute for Gene Therapy
2022-2024
Istituti di Ricovero e Cura a Carattere Scientifico
2022-2024
Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele
2024
Instituto di Biofisica
2019-2023
National Research Council
2023
Istituto di Genetica Molecolare
2019
Recombination activating genes ( RAGs ) are tightly regulated during lymphoid differentiation, and their mutations cause a spectrum of severe immunological disorders. Hematopoietic stem progenitor cell (HSPC) transplantation is the treatment choice but limited by donor availability toxicity. To overcome these issues, we developed gene editing strategies targeting corrective sequence into human RAG1 homology-directed repair (HDR) validated them tailored two-dimensional, three-dimensional, in...
During embryonic development, blood cells emerge from specialized endothelial cells, named haemogenic (HECs). As HECs are rare and only transiently found in early developing embryos, it remains difficult to distinguish them cells. Here we performed transcriptomic analysis of 28- 32-day human embryos observed that the expression Fc receptor CD32 (FCGR2B) is highly enriched cell population contains HECs. Functional analyses using pluripotent stem cell-derived revealed robust multilineage...
The biological players involved in angiogenesis are only partially defined. Here, we report that endothelial cells (ECs) express a novel isoform of the cell-surface adhesion molecule L1CAM, termed L1-ΔTM. splicing factor NOVA2, which binds directly to L1CAM pre-mRNA, is necessary and sufficient for skipping transmembrane domain ECs, leading release soluble latter exerts high angiogenic function through both autocrine paracrine activities. Mechanistically, L1-ΔTM-induced requires fibroblast...
Ex vivo activation is a prerequisite to reaching adequate levels of gene editing by homology-directed repair (HDR) for hematopoietic stem and progenitor cell (HSPC)-based clinical applications. Here, we show that shortening culture time mitigates the p53-mediated DNA damage response CRISPR-Cas9-induced double-strand breaks, enhancing reconstitution capacity edited HSPCs. However, this results in lower HDR efficiency, rendering ex necessary yet detrimental. Mechanistically, triggers...
Cystic fibrosis (CF) is a genetic disease associated with the defective function of cystic transmembrane conductance regulator (CFTR) protein that causes obstructive and chronic bacterial infections in airway epithelia. The most prevalent CF-causing mutation, deletion phenylalanine at position 508 (F508del), leads to CFTR misfolding, trafficking defects premature degradation. A number correctors are able partially rescue F508del-CFTR processing have been identified. Clinical trials...
Cystic fibrosis (CF) is caused by loss-of-function mutations in the CF transmembrane conductance regulator (CFTR) protein, an anion channel that regulates epithelial surface fluid secretion. The deletion of phenylalanine at position 508 (F508del) most common CFTR mutation. F508del characterized folding and trafficking defects, resulting decreased functional expression protein on plasma membrane. Several classes small molecules, named correctors, have been developed to rescue defective CFTR....
Cystic fibrosis (CF), the most common autosomal recessive fatal genetic disease in Caucasian population, is caused by mutations gene encoding cystic transmembrane conductance regulator (CFTR), an anion channel that regulates salt and water transport across a variety of secretory epithelia. Deletion phenylalanine at position 508, F508del, CF-causing mutation, destabilises CFTR protein, causing folding trafficking defects lead to dramatic reduction its functional expression. Small molecules...