A5044881711- Glycosylation and Glycoproteins Research
- Mass Spectrometry Techniques and Applications
- Carbohydrate Chemistry and Synthesis
- Lysosomal Storage Disorders Research
- Polymer crystallization and properties
- Analytical Chemistry and Chromatography
- Molecular Sensors and Ion Detection
- Metabolomics and Mass Spectrometry Studies
- Crystallization and Solubility Studies
- X-ray Diffraction in Crystallography
- Immune Response and Inflammation
- Legume Nitrogen Fixing Symbiosis
- Cystic Fibrosis Research Advances
- Supramolecular Chemistry and Complexes
- Ion-surface interactions and analysis
- Genomics and Phylogenetic Studies
- Advanced Proteomics Techniques and Applications
- Bacteriophages and microbial interactions
- Cellular transport and secretion
- Escherichia coli research studies
- Proteoglycans and glycosaminoglycans research
- Bacterial Genetics and Biotechnology
- biodegradable polymer synthesis and properties
- Plant Pathogenic Bacteria Studies
- Genetics and Neurodevelopmental Disorders
Bambino Gesù Children's Hospital
2025
University of Pisa
2025
Institute of Polymers, Composites and Biomaterials
2015-2024
National Research Council
2009-2021
University of Catania
2003-2014
Babol University of Medical Sciences
2014
Charlottesville Medical Research
2014
Istituto di Chimica Biomolecolare
1999-2013
TCL (China)
2011
University of Messina
2008
The 42-aa-long β-amyloid protein—Aβ 1-42 —is thought to play a central role in the pathogenesis of Alzheimer's disease (AD) (Walsh and Selkoe, 2007). Data from AD brain (Shankar et al., 2008), transgenic APP (amyloid precursor protein)-overexpressing mice (Lesné 2006), neuronal cultures treated with synthetic Aβ peptides (Lambert 1998) indicate that self-association monomers into soluble oligomers is required for neurotoxicity. function monomeric unknown. evidence present CSF normal...
ADVERTISEMENT RETURN TO ISSUEPREVArticleNEXTDetermination of linkage position and identification the reducing end in linear oligosaccharides by negative ion fast atom bombardment mass spectrometryDomenico. Garozzo, Mario. Giuffrida, Giuseppe. Impallomeni, Alberto. Ballistreri, Giorgio. MontaudoCite this: Anal. Chem. 1990, 62, 3, 279–286Publication Date (Print):February 1, 1990Publication History Published online1 May 2002Published inissue 1 February...
Congenital disorders of glycosylation (CDG) are a group metabolic diseases due to defects in protein and lipid glycosylation. We searched for the primary defect 3 children from 2 families with severe neurological phenotype, including profound developmental delay, intractable epilepsy, progressive microcephaly, hypotonia elevated blood creatine kinase levels, early fatal outcome. There was clinical evidence muscular dystrophy-dystroglycanopathy syndrome, supported by deficient O-mannosylation...
ADVERTISEMENT RETURN TO ISSUEPREVArticleNEXTMolecular and Structural Characterization of Polydisperse Polymers Copolymers by Combining MALDI-TOF Mass Spectrometry with GPC FractionationGiorgio Montaudo, Domenico Garozzo, Maurizio S. Concetto Puglisi, Filippo SamperiCite this: Macromolecules 1995, 28, 24, 7983–7989Publication Date (Print):November 1, 1995Publication History Published online1 May 2002Published inissue 1 November...
Untreated classic galactosemia (galactose-1-phosphate uridyltransferase [GALT] deficiency) is known as a secondary congenital disorders of glycosylation (CDG) characterized by galactose deficiency glycoproteins and glycolipids (processing defect or CDG-II). The mechanism this undergalactosylation has not been established. Here we show that in untreated galactosemia, there also partial whole glycans serum transferrin associated with increased fucosylation branching seen genetic assembly...
Congenital disorders of glycosylation (CDG) are a group rare metabolic diseases, due to impaired protein and lipid glycosylation. In the present study, exome sequencing was used identify MAN1B1 as culprit gene in an unsolved CDG-II patient. Subsequently, 6 additional cases with MAN1B1-CDG were found. All individuals presented slight facial dysmorphism, psychomotor retardation truncal obesity. Generally, is believed be ER resident alpha-1,2-mannosidase acting key factor glycoprotein quality...
Pathogenic de novo variants in the X-linked gene SLC35A2 encoding major Golgi-localized UDP-galactose transporter required for proper protein and lipid glycosylation cause a rare type of congenital disorder known as SLC35A2-congenital disorders (CDG; formerly CDG-IIm). To date, 29 unique from 32 unrelated individuals have been described literature. The majority affected are primarily characterized by varying degrees neurological impairments with or without skeletal abnormalities....
Abstract Alcaligenes faecalis is the predominant Gram‐negative bacterium inhabiting gut‐associated lymphoid tissues, Peyer's patches. We previously reported that an A. lipopolysaccharide (LPS) acted as a weak agonist for Toll‐like receptor 4 (TLR4)/myeloid differentiation factor‐2 (MD‐2) well potent inducer of IgA without excessive inflammation, thus suggesting LPS might be used safe adjuvant. In this study, we characterized structure both lipooligosaccharide (LOS) and from . synthesized...
Abstract The spectra recorded by matrix‐assisted laser desorption/ionization time‐of‐flight/time‐of‐flight tandem mass spectrometry (MALDI‐TOF/TOF‐MS/MS) of complex carbohydrates from human milk are presented. Besides ions originating glycosidic cleavages and sugar ring fragmentations, these show intense peaks that may be assigned to produced three new fragmentation pathways involving a six‐atom rearrangement. These ions, together with the A fragments open possibility obtaining complete...
ADVERTISEMENT RETURN TO ISSUEPREVArticleNEXTPrimary thermal decomposition processes in aliphatic polyesters investigated by chemical ionization mass spectrometryDomenico Garozzo, Mario Giuffrida, and Giorgio MontaudoCite this: Macromolecules 1986, 19, 6, 1643–1649Publication Date (Print):June 1, 1986Publication History Published online1 May 2002Published inissue 1 June 1986https://pubs.acs.org/doi/10.1021/ma00160a027https://doi.org/10.1021/ma00160a027research-articleACS PublicationsRequest...
<h3>Background</h3> The heritability of autism spectrum disorder is currently estimated at 55%. Identification the molecular basis patients with syndromic extends our understanding pathogenesis in general. objective this study was to find gene mutated eight from a large kindred, who suffered disorder, arthrogryposis and epilepsy. <h3>Methods results</h3> By linkage analysis exome sequencing, we identified deleterious mutations <i>SLC35A3</i> these patients. encodes major Golgi uridine...
Gangliosides (sialylated glycolipids) play an essential role in the CNS by regulating recognition and signaling neurons. Metabolic blocks processing catabolism of gangliosides result development severe neurologic disorders, including gangliosidoses manifesting with neurodegeneration neuroinflammation. We demonstrate that 2 mammalian enzymes, neuraminidases 3 4, important roles catabolic brain cleaving terminal sialic acid residues their glycan chains. In neuraminidase 4 double-knockout mice,...
In Gram-negative bacteria, lipopolysaccharide (LPS) contributes to the robust permeability barrier of outer membrane (OM), preventing entry toxic molecules, such as detergents and antibiotics. LPS is transported from inner (IM) OM by Lpt multiprotein machinery. Defects in transport compromise assembly at result increased antibiotic sensitivity. LptA a key component machine that interacts with IM protein LptC chaperones through periplasm. We report here construction lptA41, quadruple mutant...
Abstract Vacuolar-type H+-ATPase (V-ATPase) is a multimeric complex present in variety of cellular membranes that acts as an ATP-dependent proton pump and plays key role pH homeostasis intracellular signalling pathways. In humans, 22 autosomal genes encode for redundant set subunits allowing the composition diverse V-ATPase complexes with specific properties expression. Sixteen have been linked to human disease. Here we describe 26 patients harbouring 20 distinct pathogenic de novo missense...
Abstract The development is described of a rapid, simply and accurate analytical method aimed at evaluating both the presence cow milk in either raw ewe water buffalo samples employed industrial processes addition powdered to fresh milk, using matrix‐assisted laser desorption/ionization time‐of‐flight mass spectrometry (MALDI‐TOFMS). adulteration defined by protein patterns coming from most abundant whey proteins, α‐lactalbumin β‐lactoglobulin, used as molecular markers. As no pretreatment...
A rapid and accurate method to identify bovine ewe milk adulteration of fresh water buffalo mozzarella cheese by using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOFMS) is described. The differentiation among made from mixtures less expensive and, more recently, with achieved whey proteins, alpha-lactalbumin beta-lactoglobulins as molecular markers. It worth noting that the proposed here is, our knowledge, first strategy able characterize possible...
Abstract Members of genus Burkholderia include opportunistic Gram‐negative bacteria that are responsible for serious infections in immunocompromised and cystic fibrosis (CF) patients. The cepacia complex is a group microorganisms composed at least nine closely related genomovars. Among these, B. cenocepacia widely recognized to cause epidemics associated with excessive mortality. Species belong this strain problematic CF pathogens because their high resistance antibiotics, which makes...
Abstract Lipopolysaccharides (LPSs) are major components of the cell surface Gram‐negative bacteria. LPSs comprise a hydrophilic heteropolysaccharide (formed by core oligosaccharide and O‐specific polysaccharide) that is covalently linked to glycolipid moiety lipid A, which anchors these macromolecules external membrane. one group molecules called pathogen‐associated molecular patterns (PAMPs) indispensable for bacterial growth viability, act trigger innate defense responses in eukaryotes....
Three patients belonging to two families presented with a psychomotor-dysmorphism syndrome including postnatal growth deficiency and major spondylo-, epi-, metaphyseal skeletal involvement. Other features were muscular hypotrophy, fat excess, partial hormone deficiency, and, in of the three patients, episodes unexplained fever. Additional investigations showed mild moderate increases serum transaminases (particularly aspartate transaminase (AST)), creatine kinase (CK), lactate dehydrogenase...