A5053133921- Pluripotent Stem Cells Research
- CRISPR and Genetic Engineering
- Neuroscience and Neuropharmacology Research
- Neuroscience and Neural Engineering
- Parkinson's Disease Mechanisms and Treatments
- Lysosomal Storage Disorders Research
- Mitochondrial Function and Pathology
- Renal and related cancers
- Biochemical effects in animals
- Alzheimer's disease research and treatments
- Epigenetics and DNA Methylation
- Pancreatic function and diabetes
- Cerebral Palsy and Movement Disorders
- Genetics, Aging, and Longevity in Model Organisms
- Glycogen Storage Diseases and Myoclonus
- Epilepsy research and treatment
- Neurological disorders and treatments
- Genetics and Neurodevelopmental Disorders
Magna Graecia University
2021-2025
Objective Progressive Supranuclear Palsy (PSP) is a severe neurodegenerative disease characterized by tangles of hyperphosphorylated tau protein and tufted astrocytes. Developing treatments for PSP challenging due to the lack models reproducing its key pathological features. This study aimed model sporadic PSP‐Richardson's syndrome (PSP‐RS) using multi‐donor midbrain organoids (MOs). Methods The MOs were generated pooling induced pluripotent stem cells (iPSCs) from 4 patients with probable...
Mutations in SCN1A gene, encoding the voltage-gated sodium channel (VGSC) NaV1.1, are widely recognized as a leading cause of genetic febrile seizures (FS), due to decrease Na+ current density, mainly affecting inhibitory neuronal transmission. Here, we generated induced pluripotent stem cells (iPSCs)-derived neurons (idNs) from patient belonging genetically well-characterized Italian family, carrying c.434T > C mutation gene (hereafter SCN1AM145T). A side-by-side comparison diseased and...
Embryonic stem cells (ESCs) are pluripotent with indefinite self-renewal ability and differentiation properties. To function properly maintain genomic stability, ESCs need to be endowed an efficient repair system as well effective redox homeostasis. In this study, we investigated different aspects involved in ESCs' response iron accumulation following stable knockdown of the ferritin heavy chain (FTH1) gene, which encodes for a major storage protein ferroxidase activity. Experimental...
Embryonic stem cells (ESCs) are defined as with self-renewing and differentiation capabilities. These unique properties tightly regulated controlled by complex genetic molecular mechanisms, whose understanding is essential for both basic translational research. A large number of studies have mostly focused on the mechanisms governing pluripotency ESCs, while regulation proliferation has received comparably less attention. Here, we investigate role ZZZ3 (zinc finger ZZ-type containing 3) in...
Unverricht-Lundborg disease (ULD), also known as progressive myoclonic epilepsy 1 (EPM1), is a rare autosomal recessive neurodegenerative disorder characterized by complex symptomatology that includes action- and stimulus-sensitive myoclonus tonic-clonic seizures. The main cause of the onset development ULD repeat expansion dodecamer sequence localized in promoter region gene encoding cystatin B (CSTB), an inhibitor lysosomal proteases. Although this predominant mutation found most patients,...
Prolonged febrile seizures (FS) in children are linked to the development of temporal lobe epilepsy (MTLE). The association between these two pathologies may be ascribed long-term effects that FS exert on neural stem cells, negatively affecting generation new neurons. Among insults associated with FS, oxidative stress is noteworthy. Here, we investigated consequences exposure hydrogen peroxide (H2O2) an induced pluripotent cell-derived cells (iNSCs) model a patient affected by and MTLE. In...
Abstract Progressive supranuclear palsy (PSP) is a severe neurodegenerative disease pathologically characterized by intracellular tangles of hyperphosphorylated tau protein, widely distributed across the neocortex, basal ganglia, and midbrain. Developing effective drugs for PSP presents challenges due to its complex underpinning mechanism absence robust human models that accurately recapitulate biochemical pathological features phenotype. Brain organoids have recently emerged as...
Abstract Background: Embryonic stem cells (ESCs) are pluripotent with indefinite self-renewal ability and differentiation properties. As such, to function properly maintain genomic stability, ESCs need be endowed an efficient repair system as well effective redox homeostasis. In this study, we investigated characterized different aspects involved in response iron accumulation following stable knockdown of ferritin heavy chain ( FTH1 ) gene, encoding for a major storage protein ferroxidase...
Abstract Embryonic stem cells (ESCs) are defined as with self-renewing and differentiation capabilities. These unique properties tightly regulated controlled by complex genetic molecular mechanisms whose understanding is essential for both basic translational research. A large number of studies have mostly focused on the governing pluripotency ESCs, while regulation proliferation has received comparably less attention. In mouse can be independent processes meaning that it possible ESCs to...