A5073781068- Neuroscience and Neuropharmacology Research
- CRISPR and Genetic Engineering
- Genetics and Neurodevelopmental Disorders
- Neuroscience and Neural Engineering
- Retinal Development and Disorders
- RNA regulation and disease
- Photoreceptor and optogenetics research
- Epilepsy research and treatment
- Neurobiology and Insect Physiology Research
- Ion Transport and Channel Regulation
- Genetics, Aging, and Longevity in Model Organisms
- Circadian rhythm and melatonin
- Ion channel regulation and function
- Pluripotent Stem Cells Research
- Mitochondrial Function and Pathology
University of Valparaíso
2025
Istituti di Ricovero e Cura a Carattere Scientifico
2023-2024
Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele
2023-2024
Vita-Salute San Raffaele University
2019-2024
San Raffaele University of Rome
2016-2020
Abstract Epilepsy is a major health burden, calling for new mechanistic insights and therapies. CRISPR-mediated gene editing shows promise to cure genetic pathologies, although hitherto it has mostly been applied ex vivo. Its translational potential treating non-genetic pathologies still unexplored. Furthermore, neurological diseases represent an important challenge the application of CRISPR, because need in many cases manipulate function neurons situ. A variant CRISPRa, offers possibility...
Abstract Background Serotonin (5-HT) is known to be synthesized and accumulated in the vertebrate retina through 5-HT transporter, SERT. While manipulation of serotonergic system has been shown impact visual processing, role SERT as modulators retinal synaptic function remains poorly understood. Results Using mouse slices, we show that acute application produces a cell-type specific reduction light-evoked excitatory responses (L-EPSC) ON–OFF ganglion cells (RGCs), but not ON RGCs. Similarly,...
The CRISPR/Cas9 system is a rapid and customizable tool for gene editing in mammalian cells. In particular, this approach has widely opened new opportunities genetic studies neurological disease. Human neurons can be differentiated vitro from hPSC (human Pluripotent Stem Cells), hNPCs Neural Precursor Cells) or even directly reprogrammed fibroblasts. Here, we described platform which enables, efficient CRISPR/Cas9-mediated genome targeting simultaneously with three different paradigms...
Dravet syndrome is a severe epileptic encephalopathy, characterized by drug-resistant epilepsy, cognitive and behavioural deficits, with increased risk of sudden unexpected death (SUDEP). It caused haploinsufficiency SCN1A gene encoding for the α-subunit voltage-gated sodium channel Nav1.1. Therapeutic approaches aiming to upregulate healthy copy restore its normal expression levels are being developed. However, whether Scn1a function required only during specific developmental time-window...
Dravet syndrome is a severe epileptic that begins during the first year of life otherwise healthy babies. Over years, seizure burden changes, and pathology evolves in strong association with behavioral alterations, including cognitive delay autistic traits. Initially, this aspect was considered direct consequence epilepsy severity, DS defined as an encephalopathy. Increasing evidence suggests these two aspects disease, impairment, might not be so strictly connected. mostly caused by...
Abstract Epilepsy is a major health burden, calling for new mechanistic and therapeutic insights. CRISPR–mediated gene editing shows promise to cure genetic pathologies, although hitherto it has mostly been applied ex-vivo . Its translational potential treating non-genetic pathologies still unexplored. Furthermore, neurological diseases represent an important challenge the application of CRISPR, because need in many cases manipulate function neurons situ A variant CRISPRa, offers possibility...