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European Journal of Neurology 08/2012; 19(11):e127-9. · 3.69 Impact Factor
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C Crimella,
C Baschirotto, A Arnoldi,
A Tonelli,
E Tenderini,
G Airoldi,
A Martinuzzi,
A Trabacca,
L Losito,
M Scarlato,
S Benedetti,
E Scarpini,
G Spinicci,
N Bresolin,
M T Bassi
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ABSTRACT: Spastic paraplegia type 10 (SPG10) is an autosomal dominant form of hereditary spastic paraplegia (HSP) due to mutations in KIF5A, a gene encoding the neuronal kinesin heavy chain implicated in anterograde axonal transport. KIF5A mutations were found in both pure and complicated forms of the disease; a single KIF5A mutation was also detected in a CMT2 patient belonging to an SPG10 mutant family. To confirm the involvement of the KIF5A gene in both CMT2 and SPG10 phenotypes and to define the frequency of KIF5A mutations in an Italian HSP patient population, we performed a genetic screening of this gene in a series of 139 HSP and 36 CMT2 affected subjects. We identified five missense changes, four in five HSP patients and one in a CMT2 subject. All mutations, including the one segregating in the CMT2 patient, are localized in the kinesin motor domain except for one, falling within the stalk domain and predicted to generate protein structure destabilization. The results obtained indicate a KIF5A mutation frequency of 8.8% in the Italian HSP population and identify a region of the kinesin protein, the stalk domain, as a novel target for mutation. In addition, the mutation found in the CMT2 patient strengthens the hypothesis that CMT2 and SPG10 are the extreme phenotypes resulting from mutations in the same gene.
Clinical Genetics 05/2011; 82(2):157-64. · 3.13 Impact Factor
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A Arnoldi,
C Crimella,
E Tenderini,
A Martinuzzi,
M G D'Angelo,
O Musumeci,
A Toscano,
M Scarlato,
M Fantin,
N Bresolin,
M T Bassi
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ABSTRACT: Spastic paraplegia type 5 (SPG5) is caused by mutations in CYP7B1, a gene encoding the cytochrome P-450 oxysterol 7-α-hydroxylase, CYP7B1, an enzyme implicated in the cholesterol metabolism. Mutations in CYP7B1 were found in both pure and complicated forms of the disease with a mutation frequency of 7.7% in pure recessive cases. The mutation frequency in complex forms, approximately 6.6%, is more controversial and needs to be refined. We studied in more detail the SPG5-related spectrum of complex phenotypes by screening CYPB1 for mutations in a large cohort of 105 Italian hereditary spastic paraplegias (HSPs) index patients including 50 patients with a complicated HSP (cHSP) phenotype overlapping the SPG11- and the SPG15-related forms except for the lack of thin corpus callosum and 55 pure patients. Five CYP7B1 mutations, three of which are novel, were identified in four patients, two with a complex form of the disease and two with a pure phenotype. The CYP7B1 mutation frequencies obtained in both complicated and pure familial cases are comparable to the known ones. These results obtained extend the range of SPG5-related phenotypes and reveal variability in clinical presentation, disease course and functional profile in the SPG5-related patients while providing with some clues for molecular diagnosis in cHSP.
Clinical Genetics 01/2011; 81(2):150-7. · 3.13 Impact Factor
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Nutrition Metabolism and Cardiovascular Diseases - NUTR METAB CARDIOVASC DIS. 01/2008; 18.
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ABSTRACT: Espresso coffee is becoming more and more fashionable because it offers a great sensory satisfaction. The flavour, the taste and the opaque foam on the top are the fundamental properties for defining the acceptability and quality of an espresso cup. Roasting is extremely important in the development of these features: during this process green coffee beans of these features: during this process green coffee beans.
89 Czech J. Food Sci. Special Issue Czech J. Food Sci. 01/2004; 22(22).
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ABSTRACT: Casein and caseinates are the main ingredients of formulas for enteral nutrition. Their manufacturing procedure and the thermal treatments necessary to assure microbiological stabilization and satisfactory shelf-life of the end-products are particularly favorable for the formation of lysinoalanine (LAL), a cross-linked amino acid that is considered a useful marker of the thermal damage and reduced digestibility of proteins. The lysinoalanine content of 18 different kinds of formulas for enteral nutrition was determined by HPLC after derivatization. The liquid formulas have an average value of 528 microg/g protein LAL, ranging from 160 to 800 microg/g protein (average content of formulas for pediatric use 747 microg/g protein). These values are rather high considering that the average value detected in UHT-treated drinkable milk is 117 microg/g protein. In principle, the preparation of caseinates and the thermal stabilization of the end products are the two steps more favorable for the formation of LAL. The fact that the five samples stabilized by an UHT-treatment have an average value of 512 microg/g protein suggests that the LAL content depends more on the quality of the starting ingredients than on the sterilization process. A better selection of the starting ingredients should improve the quality of formulas for enteral nutrition, which is very desirable when formulating foods for consumers with very high nutritional demands.
Journal of Dairy Science 08/2003; 86(7):2283-7. · 2.56 Impact Factor
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04/2002;
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ABSTRACT: Some important edible oils (extra virgin olive oil, canola oil, and sunflower oil) were added to aqueous glucose-lysine or xylose-lysine model systems to investigate their effect on the formation of volatiles from the Maillard reaction (MR). The volatile compounds were extracted by a Likens-Nickerson apparatus and quantified. Pyrazines, Maillard reaction products with an important impact on food flavor, appeared to be particularly sensitive to the presence of the oils in both the xylose-lysine and glucose-lysine model systems. The unsubstituted pyrazine was formed more with olive oil, less with canola oil, and even less with sunflower oil, whereas 2-methylpyrazine, 2,5-methylpyrazine, and 2,3-dimethylpyrazine were formed less with olive oil, more with canola oil, and even more with sunflower. The oxidative states of the oils and their fatty acid fingerprints were determined: the results indicated that the relative amounts of the pyrazines are sensitive to the degree of unsaturation of the oil. The autoxidation of the volatile compounds generated from the MR, investigated by the addition of free radical modulators (antioxidants alpha-tocopherol, 2,6-di-tert-butyl-4-methylphenol, and rosemary extract; or pro-oxidant alpha,alpha'-azobis-isobutyronitrile, a free radical initiator), was limited in respect to aqueous model systems.
Journal of Agricultural and Food Chemistry 02/2001; 49(1):439-45. · 2.82 Impact Factor
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ABSTRACT: The activation of LDL receptors was described recently in a human hepatoma cell line (Hep G2) exposed both to alpha + alpha' subunits from 7S soy globulin and to Croksoy(R)70, a commercial isoflavone-poor soy concentrate. To assess the final identity of the peptide(s) putatively responsible for the biochemical effect, experiments were performed in Hep G2 cells, exposed either to synthetic peptides corresponding to specific sequences of 7S soy globulin or to peptides from the in vitro digestion of Croksoy(R)70. Moreover, the ability of the whole 7S globulin, its subunits and whole Croksoy(R)70 to interfere in the apolipoprotein B (apo B) secretion in the medium as well as in sterol biosynthesis was evaluated in the same model. Increased (125)I-LDL uptake and degradation vs. controls were shown after Hep G2 incubation with a synthetic peptide (10(-)(4) mol/L, MW 2271 Da) corresponding to positions 127-150 of the 7S globulin. Cells exposed to Croksoy(R)70 enzyme digestion products showed a more marked up-regulation of LDL receptors vs. controls, compared with vs. Hep G2 cells incubated with undigested Croksoy(R)70. Among soy-derived products, only the 7S globulin inhibited apo B secretion and (14)C-acetate incorporation when tested in Hep G2 cells at a concentration of 1.0 g/L. These findings support the hypothesis that if one or more peptides can reach the liver after intestinal digestion, they may elicit a cholesterol-lowering effect. Moreover, the protein moiety, devoid of isoflavone components, is likely to be responsible for this major biochemical effect of soy protein.
Journal of Nutrition 11/2000; 130(10):2543-9. · 3.92 Impact Factor
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ABSTRACT: A series of new alkyl and arylalkyl ethers of 2-(2, 4-dichlorophenyl)-3-(1H-1,2,4-triazol-1-yl)propanol, related to the fungicide tetraconazole, were synthesized and tested in vitro or in vivo against seven common pathogens in comparison with tetraconazole. In vitro, most of them exhibited a broad spectrum of activity and an efficacy of the same order of magnitude of the standard, but the activity was influenced by the nature of the substituents. A QSAR study showed that lipophilicity is a major positive parameter in affecting the activity; the second relevant parameter is mu, whereas geometrical descriptors indicate that linear and narrow substituents are more suitable than wide ones. In in vivo assays some compounds had good activity on bean rust, either protective or curative. Sterol analysis showed that the mechanism of action is due to inhibition of 14alpha-demethylase.
Journal of Agricultural and Food Chemistry 07/2000; 48(6):2547-55. · 2.82 Impact Factor
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ABSTRACT: The volatiles produced in xylose/lysine model systems added with an antioxidant (alpha-tocopherol, 2,6-di-tert-butyl-4-methylphenol, or rosemary extract) or a free radical initiator (alpha, alpha'-azobis(isobutyronitrile), AIBN) were analyzed to investigate the effects of the presence of free radicals on the Maillard reaction. The pH was maintained constant at 4 or 6, by adding a base, and the data were compared by principal component analysis (PCA). The additives were more effective at pH 4 than pH 6. At pH 4, the model system added with AIBN is very well-discriminated by PCA from the models with the antioxidants and the reference model system, indicating that the volatiles are sensitive to compounds that can interfere in an opposite way with free radical formation.
Journal of Agricultural and Food Chemistry 03/2000; 48(2):479-83. · 2.82 Impact Factor
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ABSTRACT: The reaction between 2-furancarboxaldehyde and 4-hydroxy-5-methyl-3(2H)-furanone was reinvestigated as a part of a systematic study on low molecular weight colored compounds from the Maillard reaction. In acetic acid/piperidine, besides 2-(2-furanylmethylene)-4-hydroxy-5-methyl-3(2H)-furanone (1) and 5-[2-(2-furanyl)ethenyl]-2-(2-furanylmethylene)-4-hydroxy-5-methyl -3( 2H)-furanone (2), four novel compounds, 15a, 15b, 16a, and 16b, were isolated and characterized. These compounds are produced from two molecules of furanone 1 and one molecule of 2-furancarboxaldehyde, and a mechanism is proposed for their formation. Compounds 1, 15a, 15b, 16a, and 16b are formed also by reacting 2-furancarboxaldehyde and 4-hydroxy-5-methyl-3(2H)-furanone in water at pH 3 and 2, whereas 2 was never detected. The formation of these compounds was studied also in xylose/lysine and xylose/glycine model systems.
Journal of Agricultural and Food Chemistry 12/1999; 47(12):4962-9. · 2.82 Impact Factor
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ABSTRACT: Lysinoalanine (LAL) and ornithinoalanine (OAL) are unnatural amino acids that can be formed in food submitted to thermal treatment, especially in alkaline conditions. The paper presents an optimization of the synthetic procedure for the preparation of a standard of OAL that could be very useful to study the toxicological and nutritional consequences of the presence of OAL in food. In the meantime, it was possible to develop a method based on nuclear magnetic resonance for the diastereomeric characterization of LAL and OAL without derivatization. Interest in this method is based on the known differences in the nephrotoxicity of the two diastereisomers of LAL.
Journal of Agricultural and Food Chemistry 04/1999; 47(3):939-44. · 2.82 Impact Factor
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ABSTRACT: The synthesis of some 5-hydroxy-4-imino-2,3-dihydrobenzopyran derivatives of GABA and alkylamines is described. The products were tested for their GABA-receptor binding and anticonvulsant activity in mice. Some compounds showed anticonvulsant activity. No binding to GABA receptors was observed.
Il Farmaco 06/1991; 46(5):629-38.
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ABSTRACT: Tetraconazole racemate and its enantiomers were compared for their different capability to affect growth and ergosterol biosynthesis in Ustilago maydis and Saccharomyces cerevisiae. At subletal doses quantitative effects on sterols in sporidia of U. maydis, when expressed as in vivo IC50 values, were found to coincide with in vitro IC50 values (concentrations which inhibit net ergosterol biosynthesis in cell-free extract by 50%). Impairment of cell separation was the early symptom of fungitoxicity and the related EC50 values (concentrations which inhibit cell multiplication by 50%) were aligned with the biochemical effects. S. cerevisiae was shown to be the less sensitive species of several fungi. Sterol biosynthesis inhibition ranked the enantiomers according to their order of fungitoxicity on both organisms tested. The enantiomeric activity ratios (R/S), when determined by the in vitro IC50 values, were in the range of 10-13 in both cases, with the R-(+)-isomer being the most active one. Interaction with cytochrome P450, partially purified from microsomes of S. cerevisiae and utilized as 1.4 x 10−7M solution, showed type II spectra with saturation reached when approximately equimolecular amounts of the separate isomers or racemate were added. This supports the view that both tetraconazole enantiomers have very high affinity to the target site, as also shown with microsomal P450 isolated from U. maydis. The different strength of their bindings to the target site apparently rests on the CO displacement tests, by which the S-(−)-isomer is more easily removed than its optical antipode. Accordingly, the stereoselective accommodation of dichlorophenyl and tetrafluoroethyl ether moieties of tetraconazole within the active site of the target enzyme are briefly discussed.
Pesticide Biochemistry and Physiology.
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ABSTRACT: Sulfonylureas are a relatively new class of herbicides characterised by several aspects that make them particularly interesting in comparison with other products. Two microbial consortia able to grow on two sulfonylureas, chlorsulfuron and metsulfuron- methyl, were selected in laboratory conditions using as inocula soil samples previously treated with sulfonylurea herbicides and from a laboratory enrichment culture obtained with chlorsulfuron. From these mixed cultures, a Pseudomonas fluorescens strain called B2, was able to degrade in co-metabolic conditions with a rich medium in two weeks about 21% of metsulfuron-methyl and 32% of chlorsulfuron. For both herbicides, three microbial metabolites were detected and characterized, suggesting two different degradation path- ways in which the cleavage of sulfonylurea bridge takes place. Chemical hydrolysis, per- formed in acidic condition, in order to determine the chemical degradation pathways and to obtain pure standard for HPLC analyses, allowed to identify different compounds from those obtained with biodegradation; in fact the cleavage of triazinic ring happened. These results suggest that microbiological and chemical degradation can follow different path- ways.
