A5083921752- Lysosomal Storage Disorders Research
- Trypanosoma species research and implications
- DNA Repair Mechanisms
- DNA and Nucleic Acid Chemistry
- Metabolism and Genetic Disorders
- Marine Sponges and Natural Products
- CRISPR and Genetic Engineering
- Metal complexes synthesis and properties
- Cellular transport and secretion
- Carbohydrate Chemistry and Synthesis
- Glycogen Storage Diseases and Myoclonus
- Mitochondrial Function and Pathology
- Biomedical Research and Pathophysiology
- RNA and protein synthesis mechanisms
- RNA Interference and Gene Delivery
- Carcinogens and Genotoxicity Assessment
- Virus-based gene therapy research
- Neonatal Health and Biochemistry
- Biochemical and Molecular Research
- Bacterial Genetics and Biotechnology
- Enzyme Production and Characterization
- Immunodeficiency and Autoimmune Disorders
- Ferrocene Chemistry and Applications
- Neurobiology and Insect Physiology Research
- Alkaline Phosphatase Research Studies
Istituto di Chimica Biomolecolare
1991-2025
University of Naples Federico II
2011-2024
Oklahoma State University
2024
Ceinge Biotecnologie Avanzate (Italy)
2015-2022
Federico II University Hospital
2005-2019
Istituto Nazionale di Fisica Nucleare, Sezione di Napoli
1993-2015
Biologie Labor
2015
TCL (China)
2011
National Center on Birth Defects and Developmental Disabilities
2009
Centre de Gestion Scientifique
2007
Abstract Mucopolysaccharidosis IIIB (MPS IIIB; Sanfilippo syndrome type B) is characterized by profound neurological deterioration. Because a murine model of MPS disease available, we focused on analysis gene expression in the brain and cerebellum 7‐month‐old mice pathway‐specific filter microarrays designed to probe apoptotic‐related, neurotrophic signalling molecules inflammatory cytokines receptors. Moreover, extended with real‐time PCR performed at 1, 3, 7 months after birth. Bdnf was...
Most spontaneous and induced mutations occur as mistakes during DNA synthesis. The low error rate (roughly 10−9/nucleotide replication in Escherichia coli: for review, see Cox [1976]) is achieved by the cellular enzymatic machinery. For example, prokaryotic polymerases contribute to fidelity of synthesis through an active base selection associated 3′→5′ exonuclease, called proofreading or editing activity, demonstrated genetical biochemical studies mutator antimutator mutants affecting...
This paper highlights the importance of metabolic profiling by LC-MS/MS and GC-MS biological fluids for diagnosis inborn errors metabolism confirms a high incidence these disorders.
The precious red coral Corallium rubrum (Linnaeus, 1758) is a charismatic species living in the Mediterranean Sea and its Atlantic surroundings, known for slow growth long lifespan. development of reliable method assessing colony age has enabled comparison average annual rates, minimising age-related variability. This study aimed to investigate potential effect depth on by analysing set morphometric parameters - basal diameter, height, weight, total branch length (TBL), number apexes...
Mucopolysaccharidosis type I is a lysosomal disease due to mutations in the IDUA gene, resulting deficiency of α-L-iduronidase and accumulation glycosaminoglycans (GAGs). Bone marrow transplantation enzyme replacement are two therapies considered only moderately successful for affected patients, making development novel treatments necessary. We have previously shown efficacy lentivirus-mediated gene transfer correct patient fibroblasts vitro. Here we tested lentiviral-IDUA vector therapy...
Growing evidence suggests that the Rad9-Rad1-Hus1 complex (the 9-1-1 complex), besides its functions in DNA damage sensing and signaling pathways, plays also a direct role various repair processes.Recent studies have demonstrated physically functionally interacts with several components of base excision (BER) machinery namely polymerase b (Pol b), flap endonuclease 1 (Fen 1), ligase I (Lig I) MutY homologue Schizosaccharomyces pombe.In this work, we found for first time vitro vivo...
The characterization of urinary metabolome, which provides a fingerprint for each individual, is an important step to reach personalized medicine. It influenced by exogenous and endogenous factors; among them, we investigated sex influences on 72 organic acids measured through GC-MS analysis in the urine 291 children (152 males; 139 females) aging 1-36 months stratified four groups age. Among metabolites, all age groups, 4-hydroxy-butirate homogentisate are found only males, whereas...
Sanfilippo syndrome type A or mucopolysaccharidosis IIIA (MPS IIIA) is a lysosomal storage disorder caused by the deficiency of enzyme heparin sulfamidase (EC 3.10.1.1), required for degradation mucopolysaccharide heparan sulfate. Patients develop central nervous system degeneration resulting in progressive dementia, developmental delay, hyperactivity, and aggressive behaviour; subjects may present wide spectrum clinical severity. Here, we report results from molecular analysis 24 Italian...
The Sanfilippo syndrome type B (mucopolysaccharidosis IIIB) is an autosomal recessive disorder due to mutations in the gene encoding NAGLU (alpha-N-acetylglucosaminidase), one of enzymes required for degradation GAG (glycosaminoglycan) heparan sulphate. No therapy exists affected patients. We have shown previously efficacy lentiviral-NAGLU-mediated transfer correcting vitro defect on fibroblasts In present study, we tested vivo a knockout mouse model using intravenous injections. Mice (8-10...
polypeptides designated a, p, y, and 6, with molecular weights of 148,000
Abstract Mucopolysacccharidosis (MPS) IIIB is an inherited lysosomal storage disorder caused by the deficiency of alpha‐ N ‐acetylglucosaminidase (NAGLU). The disease characterized mild somatic features and severe neurological involvement with high mortality. Although several therapeutic approaches have been applied to murine model disease, no effective therapy available for patients. In this study, we used lentiviral‐NAGLU vector deliver functional human NAGLU gene into brain young adult...
This report concerns two new cases of the Cohen syndrome and gives further information on variable phenotypical pattern disease. The frequency major minor clinical signs is reviewed from all published reports. Among we found previously undescribed skeletal abnormalities in one our patients. reported delay onset puberty, which appears to be a frequent aspect syndrome, seems occur without LH FSH deficiency, as patients show.
Mucopolysaccharidosis type I (MPS IH; Hurler syndrome) is a rare genetic disorder that caused by mutations in the α-L-iduronidase (IDUA) gene, resulting deficiency of IDUA enzyme activity and intra-cellular accumulation glycosaminoglycans. A characteristic skeletal phenotype one many clinical manifestations disease. Since mechanism(s) underlying these defects are not completely understood, bone cartilage mesenchymal lineages, we focused on characterization cells isolated from marrow (BM) 5...
In vitro bypass of damaged DNA by replicative polymerases is usually blocked helix‐distorting or bulky lesions. this study, we report that substitution the divalent metal ion Mg2+ with Mn2+ promotes quantitative replication model substrates containing major cisplatin N‐2‐acetylaminofluorene adducts catalytic subunit (UL30) polymerase herpes simplex virus. The ability ions to confer lesions was not observed other B family, such as bacteriophage T4 δ polymerases. However, for these enzymes,...
Abstract The isolation of known and novel metabolites from several predator‐prey pairs is reported. usefulness secondary as tracers to detect predation also discussed. Many species nudibranchs are closely associated with their food species, which include sponges, bryozoans coelenterates, often so that they easily fit the criteria for a symbiotic association. nudibranch associations have high potential 2 models study basic biological problems such chemorecognition chemotaxis, settling...