Liliana Mazur

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Transferase-deficiency galactosemia is an inborn error of metabolism resulting from impairment of the enzyme galactose-1-phosphate uridylyltransferase (GALT), which normally catalyzes the second step of the Leloir pathway of galactose metabolism. Several recent studies have linked a previously reported substitution, N314D (asn to asp at position 314), with(More)
We have identified three mutations associated with transferase-deficiency galactosemia in a three-generation family including affected members in two generations and have modeled all three mutations in a yeast-expression system. A sequence of pedigree, biochemical, and molecular analyses of the galactose-1-phosphate uridyltransferase (GALT) enzyme and(More)
The title compound, C(19)H(13)N(5)O(2), crystallizes in two monoclinic forms depending on the solvent used. From methanol or acetone, a yellow form [(Ia), m.p. 533 K] in the space group P2(1) is obtained, while with ethanol as the solvent, an orange form [(Ib), m.p. 541 K] in the space group Cc results. The conformers observed in the two polymorphs differ(More)
New 3-(3,4-diaryl-1,2,4-triazole-5-yl)propenoic acid derivatives (8-14) were synthesized by condensation of N(3)-substituted amidrazones (1-7) with maleic anhydride. Molecular structure of obtained compounds was confirmed by an elemental analysis, IR and (1)H NMR spectra, and the X-ray crystallography for compound 11. The influence of the compound 9 on the(More)
New N-substituted amides of 3-(3-ethylthio-1,2,4-triazol-5-yl)propenoic acid (2-12) were designed and prepared by the condensation reaction of exo-S-ethyl-7-oxabicyclo-[2.2.1]-hept-5-ene-2,3-dicarbonyl isothiosemicarbazide (1) with primary amines. The chemical structure of all compounds was confirmed by IR, (1)H NMR, (13)C NMR spectra, the X-ray(More)
The solid-state conformation of the first N-protected ornithine derivative has been established by X-ray analysis. The hydrochloride of Nα-(9-fluorenyl)methoxycarbonyl-l-ornithine crystallises as diethyl ether solvate. The backbone (ω0 ϕ, ψ χ1) torsion angles are (174.9°,–84.0°, 145.9°,–171.0°). The conformation of the urethane amide bonds istrans. The(More)
Structural parameters, originating from x-ray crystallographic data, have been compiled for 13 derivatives of amino acids, peptides and related compounds, which contain a total of 14 Fmoc-NH- moieties. For these moieties, molecular geometries and conformations--described by the omegao, theta1, theta2 and theta3' torsion angles--were analysed and compared(More)
Presents data on the morphology and function of the cervical canal mucosa, obtained with the use of colpocervicoscopy, as well as cytologic qualitative and quantitative characteristics of the glandular epithelium. Demonstrates high informative value and compatibility of the results obtained by different methods for the assessment of anaplasia and(More)
A new linear amidrazone derivative, 6-acetyl-cyclohex-3-enecarboxylic acid [1-pyridin-2-yl-1-(pyridyn-2-yloamin)meth-(Z)-ylidene] hydrazide, H(2)L (2) and its Cu(II) complex, [Cu(2)L(2)]·4H(2)O (3) were synthesized and characterized by elemental analysis, IR and (1)H NMR spectroscopy and cyclic voltammetry. Compound 2 was synthesized in the equimolar(More)
This study presents the synthesis and spectral analysis of new derivatives of 1,2,4-triazole-3-thione and 1,3,4-thiadiazole. New compounds were prepared by cyclization reaction of acyl thiosemicarbazide derivatives in the presence of alkaline and acidic media. All synthesized compounds were screened for their in vitro antibacterial activity by using the(More)