A5081392875- Lysosomal Storage Disorders Research
- Neurogenesis and neuroplasticity mechanisms
- Biochemical and Molecular Research
- Cytomegalovirus and herpesvirus research
- HIV/AIDS drug development and treatment
- Nanoparticle-Based Drug Delivery
- RNA regulation and disease
- Advanced Drug Delivery Systems
- RNA Interference and Gene Delivery
- Carbohydrate Chemistry and Synthesis
- Virus-based gene therapy research
- Pneumocystis jirovecii pneumonia detection and treatment
- Cholinesterase and Neurodegenerative Diseases
- Neuroscience and Neuropharmacology Research
- Alzheimer's disease research and treatments
- Cancer Research and Treatment
- Mitochondrial Function and Pathology
- Ion Transport and Channel Regulation
- Glycogen Storage Diseases and Myoclonus
- PI3K/AKT/mTOR signaling in cancer
- Trypanosoma species research and implications
- Child Nutrition and Feeding Issues
- Mesenchymal stem cell research
- Migraine and Headache Studies
- Histiocytic Disorders and Treatments
Neuroscience Institute
2023
University of Perugia
2015
The San Raffaele Telethon Institute for Gene Therapy
2001-2007
Vita-Salute San Raffaele University
2004
Salk Institute for Biological Studies
2004
Stable genetic modification of adult stem cells is fundamental for both developmental studies and therapeutic purposes. Using in vivo marking studies, we showed that injection lentiviral vectors (LVs) into the subventricular zone mouse brain enables efficient gene transfer long-term self-renewing neural precursors steady, robust vector expression their neuronal progeny throughout its rostral extension, up to olfactory bulb. By clonal population analysis culture, proved -marked display...
Therapy for neurodegenerative lysosomal Tay–Sachs (TS) disease requires active hexosaminidase (Hex) A production in the central nervous system and an efficient therapeutic approach that can act faster than human progression. We combined efficacy of a non-replicating Herpes simplex vector encoding Hex alpha-subunit (HSV-T0alphaHex) anatomic structure brain internal capsule to distribute missing enzyme optimally. With this gene transfer strategy, first time, we re-established activity totally...
Purpose. To evaluate retrospectively the efficiency of our rehabilitation programme for patients with Prader–Willi Syndrome. In total, 49 were examined, 21 female and 28 male, youngest in their late teens. syndrome is generally characterised by cognitive impairment, behavioural abnormalities, hyperphagia. Patients are usually considerably adverse to any form physical exercise, despite hormonal therapy, weight control adult can be difficult.Methods. Four times a year, disease-specific...
Glycogenosis type II, or Pompe Disease, is a lysosomal storage disease caused by the deficiency of acid alpha-glucosidase (GAA), leading to glycogen accumulation in muscles. A recombinant human GAA (rhGAA, Myozyme®) currently used for enzyme replacement therapy. Despite its efficacy most patients, some them show diminished response treatment with rapidly progressive clinical deterioration, due immuno-mediated inactivation. To demonstrate that Nanoparticles (NPs) could be profitably exploited...
Background, rationale, and methods . Lesch-Nyhan disease is a rare, X-linked disorder due to hypoxanthine phosphoribosyltransferase deficiency. To evaluate reported benefit on mood behavior obtained by the administration of S-adenosyl-l-methionine in this condition, we developed 2 quantitative evaluation tools, used them assess effects drug our population: weekly questionnaire resistance self-injurious test. We performed an open-label, dose-escalation trial 14 patients. Results. Four...
Abstract Background Demyelination in globoid cell leukodystrophy (GLD) is due to a deficiency of galactocerebrosidase (GALC) activity. Up now, vivo brain viral gene transfer GALC showed modest impact on disease development Twitcher mice, an animal model for GLD. Lentiviral vectors, which are highly efficient the expression therapeutic genes neurons and glial cells, have not been evaluated direct cerebral therapy GLD mice. Methods vectors containing untagged cDNA or hemagglutinin (HA)‐tagged...
The objective of this study was to estimate the prevalence hearing impairment in four genetically isolated Italian villages (Carlantino, Campora, Gioi-Cardile, and Stoccareddo), 1682 subjects were recruited from all individuals participating a multidisciplinary study. They underwent otoscopy pure-tone audiometry completed questionnaire. audiological data show that percentage impaired people increases with age particular becomes relevant aged over 40. For reason we decided compare PTA values...
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder caused by mutations in either of two genes, TSC1 or TSC2, resulting the constitutive activation mammalian target rapamycin 1 (mTORC1). mTOR inhibitors are now considered treatment choice for TSC disease. A major pathological feature development subependymal giant cell astrocytomas (SEGAs) brain. Nowadays, it thought that SEGAs could be a consequence aberrant aggregation and migration neural stem/progenitor cells...
Abstract Gene therapy of galactocerebrosidase (GALC) deficient mice (Twitcher mutants) requires a fast and sensitive assay to detect transduced cells in vitro vivo. We have developed new rapid histochemical method that specifically detects GALC activity situ neural using 5‐Br‐3Cl‐β‐galactopiranoside (X‐Gal) the presence taurodeoxycholic oleic acids enhance suspension substrate at low pH. Using this method, we observed robust X‐Gal staining diverse neuronal populations interfascicular...
We have used magnetic resonance imaging (MRI) and motor evoked potentials (MEPs) for monitoring disease progression within the CNS of Twitcher mouse, murine model globoid cell leukodystrophy (GLD). GLD is a lysosomal storage disorder, resulting from galactocerebrosidase deficiency, causing central peripheral myelin impairment, leading to death, usually during early infancy. Neuroradiological, electrophysiological, pathological parameters maturation were evaluated in mice between postnatal...
Abstract Background Lesch‐Nyhan disease (LND; OMIM 300322), caused by virtually absent hypoxanthine‐guanine phosphoribosyltransferase activity, in its classic form is characterised hyperuricemia, variable cognitive impairment, severe motor disorder and a characteristic behavioural (Lesch‐Nyhan Behavior, LNB), typically described as self‐injurious behavior (SIB) “self‐mutilation.” This work focuses on the latter aspect with aim of exploring broadening it. Methods The participant observation...
Congenital disorder of glycosylation (CDG) type Ia is a multisystem that occurs due to mutations in the phosphomannomutase 2 (PMM2) gene, which encodes for an enzyme involved N‑glycosylation pathway. Mutated PMM2 leads reduced conversion mannose‑6‑P mannose‑1‑P, results low concentration levels guanosine 5'‑diphospho‑D‑mannose (GDP‑Man), nucleotide‑activated sugar essential construction protein oligosaccharide chains. In present study, vitro therapeutic approach was used, based on...
Alzheimer’s disease (AD) and the evolution of “Amyloid Hypothesis”: The primary risk factor for dementia is aging, as overwhelming majority individuals who have (~95%) are 65 years old or older, rate development AD doubles roughly every five from that age, peaking at a nearly 50% population prevalence by age 85. progressive irreversible, with an average time course 8 to 10 years. Regardless catastrophic forecasts next decades, its actual has huge family social costs. exact mechanisms leading...