A5086881818- Lysosomal Storage Disorders Research
- Trypanosoma species research and implications
- Carbohydrate Chemistry and Synthesis
- Cellular transport and secretion
- Biomedical Research and Pathophysiology
- Enzyme Production and Characterization
- Glycosylation and Glycoproteins Research
- Glycogen Storage Diseases and Myoclonus
- Erythrocyte Function and Pathophysiology
- RNA and protein synthesis mechanisms
- Neurogenetic and Muscular Disorders Research
- Virus-based gene therapy research
- RNA regulation and disease
- Cell Adhesion Molecules Research
- Biochemical and Molecular Research
- Research on Leishmaniasis Studies
- Platelet Disorders and Treatments
- RNA modifications and cancer
- Skin and Cellular Biology Research
- Signaling Pathways in Disease
- Enzyme function and inhibition
- CRISPR and Genetic Engineering
- Adenosine and Purinergic Signaling
- Pineapple and bromelain studies
- Fetal and Pediatric Neurological Disorders
Universidad Latina
2019
Robert Bosch (Germany)
2016
University of Naples Federico II
2005-2015
Center for Biomolecular Nanotechnologies
2009
National Center on Birth Defects and Developmental Disabilities
2009
Federico II University Hospital
2004-2008
Telethon Foundation
2007
Ospedali Riuniti di Ancona
1999
Université Paris Cité
1993
Baylor College of Medicine
1993
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...
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...
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...
Multiple sulfatase deficiency (MSD) is a rare disorder characterized by impaired activity of all known sulfatases. The gene mutated in this disease SUMF1, which encodes protein involved post-translational modification at the catalytic site sulfatases that necessary for their function. SUMF1 strongly enhances when coexpressed with Cos-7 cells. We performed mutational analysis 20 MSD patients different ethnic origin. clinical presentation these was variable, ranging from severe neonatal forms...
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...
Clinical heterogeneity for Sanfilippo B syndrome (MPS III B) in the same family has never been reported previously. We describe two clinically severe cases and one mild case of MPS a Neapolitan sibship. could not detect N‐acetyl‐α‐D‐glucosaminidase activity sera either or cases. Mucopolysac‐chariduria mainly due to heparan sulfate excretion was consistently high severely affected patients extremely variable mildly one.
Mucopolysaccharidosis type I (MPS I) due to deficient α-L-iduronidase (IDUA) activity results in the accumulation of glycosaminoglycans (GAGs) many cells affected patients. Stable gene replacement by vivo administration lentiviral vectors (LVs) has therapeutic potential for metabolic disorders and other systemic diseases. We have previously shown a murine model IDUA vector-mediated therapy, which human cDNA was driven cytomegalovirus promoter. However, major limitation this approach...
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...
Mucopolysaccharidosis (MPS) IIIB is a lysosomal disease due to the deficiency of enzyme α-N-acetylglucosaminidase (NAGLU) required for heparan sulfate (HS) degradation. The characterized by mild somatic features and severe neurological disorders. Very little known on cardiac dysfunctions in MPS IIIB. In this study, we used murine model (NAGLU knockout mice, NAGLU-/-) order investigate involvement disease. Echocardiographic analysis showed marked increase left ventricular (LV) mass, reduced...
Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disorder caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Mutation screening GALNS gene was performed RT-PCR with one amplicon and direct sequence analyses using cDNA samples from 15 Italian MPS patients. Each mutation confirmed at genomic level. In this study, 13 different mutations four common (over 10% mutant alleles) were identified in 12 severe three milder (attenuated) The alterations out found to...
Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive disorder caused by a deficiency of the lysosomal N-acetylgalactosamine-6-sulfate sulfatase. Here, we report our analysis data on 21 patients diverse ethnic and geographic origins studied SSCP sequencing analysis. Sixteen mutations were detected, including 14 new (11 missense, one premature termination, splice site alteration, cryptic alteration). The donor mutation (IVS4 + 1G→A) predicts that normal splicing will be abolished...
Mucopolysaccharidosis (MPS) describes any inherited lysosomal storage disorder resulting from an inability to catabolize glycosaminoglycans. MPS III (or Sanfilippo syndrome) is autosomal recessive disease caused by a failure degrade heparan sulphate. There are four subtypes of III, each categorized deficiency in specific enzyme involved the sulphate degradation pathway. The genes mutated three these (MPS IIIA, IIIB, and IIID) have been cloned for some time. However, only very recently has...
Mucopolysaccharidosis type II (MPS or Hunter syndrome) is a rare X‐linked disorder caused by deficient activity of the lysosomal enzyme, iduronate‐2‐sulfatase (IDS). Phenotypic expression MPS in female patients rarely occurs and may be result (i) structural abnormalities X chromosome, (ii) homozygosity for disease‐causing mutations, (iii) skewed X‐chromosome inactivation, which normal IDS allele preferentially inactivated abnormal active. We report here on patient with clinical...