A5085123077- Pluripotent Stem Cells Research
- CRISPR and Genetic Engineering
- Lysosomal Storage Disorders Research
- Neurogenesis and neuroplasticity mechanisms
- Virus-based gene therapy research
- Cellular transport and secretion
- interferon and immune responses
- Mosquito-borne diseases and control
- Biomedical Ethics and Regulation
- Calcium signaling and nucleotide metabolism
- Mitochondrial Function and Pathology
- Retinal Development and Disorders
- Neuroinflammation and Neurodegeneration Mechanisms
- Amyotrophic Lateral Sclerosis Research
- Genetic Neurodegenerative Diseases
Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele
2016-2025
The San Raffaele Telethon Institute for Gene Therapy
2020-2025
Istituti di Ricovero e Cura a Carattere Scientifico
2016-2025
IRCCS Ospedale San Raffaele
2024
Vita-Salute San Raffaele University
2016
We employed induced pluripotent stem cell (iPSC)-derived neurons obtained from Friedreich ataxia (FRDA) patients and healthy subjects, FRDA CT neurons, respectively, to unveil phenotypic alterations related frataxin (FXN) deficiency investigate if they can be reversed by treatments that upregulate FXN. control iPSCs were equally capable of differentiating into a neuronal or astrocytic phenotype. showed lower levels iron–sulfur (Fe–S) lipoic acid-containing proteins, higher labile iron pool...
Adeno-associated viral (AAV) vector-based gene therapy is gaining foothold as treatment for genetic neurological diseases with encouraging clinical results. Nonetheless, dose-dependent adverse events have emerged in recent trials through mechanisms that remain unclear. We modelled here the impact of AAV transduction cell models human central nervous system (CNS), taking advantage induced pluripotent stem cells. Our work uncovers vector-induced innate immune contribute to death. While empty...
Globoid cell leukodystrophy (GLD) is a rare neurodegenerative lysosomal storage disease caused by an inherited deficiency of β-galactocerebrosidase (GALC). GLD pathogenesis and therapeutic correction have been poorly studied in patient neural cells. Here, we investigated the impact GALC lentiviral vector-mediated rescue/overexpression induced pluripotent stem (iPSC)-derived progenitors neuronal/glial progeny obtained from two patients. displayed progressive psychosine storage,...
Abstract Adeno-associated viral (AAV) vector-based gene therapy is gaining foothold as a treatment option for variety of genetic neurological diseases with encouraging clinical results. Nonetheless, dose-dependent toxicities and severe adverse events have emerged in recent trials through mechanisms that remain unclear. We modelled here the impact AAV transduction context cell models human central nervous system (CNS), taking advantage induced pluripotent stem cell-based technologies. Our...
Summary Globoid Cell Leukodystrophy (GLD, or Krabbe disease) is a rare lysosomal storage disease caused by inherited deficiency of β-galactocerebrosidase (GALC). The build-up galactosylsphingosine (psychosine) and other undegraded galactosylsphingolipids in the nervous system causes severe demyelination neurodegeneration. molecular mechanisms GLD are poorly elucidated neural cells whether murine systems recapitulate critical aspects human still to be defined. Here, we established collection...