Elena del Favero

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beta-Amyloid precursor protein (APP) mutations cause familial Alzheimer's disease with nearly complete penetrance. We found an APP mutation [alanine-673-->valine-673 (A673V)] that causes disease only in the homozygous state, whereas heterozygous carriers were unaffected, consistent with a recessive Mendelian trait of inheritance. The A673V mutation affected(More)
Microtubule-associated protein tau gene (MAPT) is one of the major genes linked to frontotemporal lobar degeneration, a group of neurodegenerative diseases clinically, pathologically, and genetically heterogeneous. In particular, MAPT mutations give rise to the subgroup of tauopathies. The pathogenetic mechanisms underlying the MAPT mutations so far(More)
Neutron reflectivity has been applied to investigate different mixed asymmetric lipid systems, in the form of single "supported+floating" bilayers, made of phospholipids, cholesterol and GM1 ganglioside (Neu5Acα2-3(Galβ1-3GalNAcβ1-4)Galβ1-4Glcβ1Cer)) in bio-similar mole ratios. Bilayer preparation was carried out layer-by-layer with the Langmuir-Blodgett(More)
The surgical treatment of 87 hepatic cysts from Echinococcus granulosus in 42 patients has been presented. The importance of determining the features of the cysts in each patient (age, number, location, and relation with vasculobiliary structures) in order to carry out the most appropriate treatment was stressed. Radical surgery was preferred because(More)
Cellular membranes are highly organized structures with multiple and multi-dimensional levels of order where lipid components are active players. The lipid role is especially evident in rafts, where lipid-driven collective interaction dictates the local structure of a membrane. However, lipids play as well other roles in many aspects of membrane mechanics(More)
The demand for understanding the physical role of gangliosides in membranes is pressing, due to the high number of diverse and crucial biological functions in which they are involved, needing a unifying thread. To this purpose, model systems including gangliosides have been subject of extensive structural studies. Although showing different levels of(More)
Accumulation of brown products in long-lived proteins might be an important factor in determining long-term diabetic complications. Fluorescent chromophore 2-(2-furoyl)-4-(5)-(2-furanyl)-1H-imidazole (FFI), isolated from hydrolyzed brown products synthesized in vitro, was proposed as a specific brown product responsible for functional and structural changes(More)
It is well known that the curvature of ganglioside-containing nanoparticles strongly depends on their headgroup structure, as determined in aggregates with 'stationary' composition, that is, when the system finds its optimal structure at the moment of lipid dissolution in aqueous solution. In the present work, we directly followed the structural change in(More)
Hemoglobin conjugated with poly(ethylene glycol) (PEG) acts as an oxygen carrier free in plasma, substituting red blood cells in supplementing oxygen in hypo-oxygenation pathologies. Given the complexity of oxygen delivery controls, subtle structural and functional differences in PEGylated hemoglobins might be associated with distinct physiological(More)
From December 1985 to December 1990, 100 liver orthotopic transplantations (OLTX) were performed in 89 adults with cirrhosis and various other liver diseases; eight patients had two transplants and three of these had three transplants. Organ perfusion was done with Eurocollins in the first 30, then with UW solution. Immunosuppressants were a combination of(More)