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1

Properties of methylenetetrahydrofolate reductase (MetF) from Escherichia coli — in vivo assay

100%
Kloska A., Jakobkiewicz-Banecka J., Banecki B., Wegrzyn G.
Acta Biochimica Polonica
|
2003
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tom 50
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nr Supplement 1
2

Substrate deprivation therapy: a new hope for patients syffering from neuronopathic forms of inherited lysosomal storage diseases

100%
Jakobkiewicz-Banecka J., Wegrzyn A., Wegrzyn G.
Journal of Applied Genetics
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2007
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tom 48
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nr 4
383-388
Lysosomal storage diseases are a group of disorders caused by defects in enzymes responsible for degradation of particular compounds in lysosomes. In most cases, these diseases are fatal, and until recently no treatment was available. Introduction of enzyme replacement therapy was a breakthrough in the treatment of some of the diseases. However, while this therapy is effective in reduction of many somatic symptoms, its efficacy in the treatment of the central nervous system is negligible, if any, mainly because of problems with crossing the blood-brain-barrier by intravenously administered enzyme molecules. On the other hand, there are many lysosomal storage diseases in which the central nervous system is affected. Results of very recent studies indicate that in at least some cases, another type of therapy, called substrate deprivation therapy (or substrate reduction therapy) may be effective in the treatment of neuronopathic forms of lysosomal storage diseases. This therapy, based on inhibition of synthesis of the compounds that cannot be degraded in cells of the patients, has been shown to be effective in several animal models of various diseases, and recent reports demonstrate its efficacy in the treatment of patients suffering from Niemann-Pick C disease and Sanfilippo disease.
3

Simultaneous siRNA-mediated silencing of pairs of genes coding for enzymes involved in glycosaminoglycan synthesis

100%
Dziedzic D., Narajczyk M., Gabig-Ciminska M., Jakobkiewicz-Banecka J.
Acta Biochimica Polonica
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2012
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tom 59
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nr 2
It has been demonstrated recently that it is possible to decrease expression of genes coding for enzymes involved in synthesis of glycosaminoglycans (GAGs) by using specific siRNAs which interfere with stability of particular mRNAs. This procedure has been proposed as a potential treatment for patients suffering from mucopolysaccharidoses, a group of inherited metabolic diseases caused by dysfunction of enzymes required for GAG degradation, and resultant storage of these compounds in cells of affected persons. Here, we asked if the simultaneous use two species of specific siRNAs aimed at silencing two genes involved in particular steps of GAG synthesis may be more effective than the use of single siRNA. We found that inhibition of GAG synthesis in cells treated with two siRNAs is generally more effective than using single siRNAs. However, the differences were not statistically significant, therefore the potential benefit from the use of two siRNAs over the use of a single siRNA is doubtful in the light of the cost-benefit ratio and possibly stronger side-effects of the putative therapy.
4

Putative biological mechanisms of efficiency of substrate reduction therapies for mucopolysaccharidoses

88%
Banecka-Majkutewicz Z., Jakobkiewicz-Banecka J., Gabig-Ciminska M., Wegrzyn A., Wegrzyn G.
Archivum Immunologiae et Therapiae Experimentalis
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2012
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tom 60
|
nr 6
5

Molecular factors involved in the development of diabetic foot syndrome

76%
Bruhn-Olszewska B., Korzon-Burakowska A., Gabig-Ciminska M., Olszewski P., Wegrzyn A., Jakobkiewicz-Banecka J.
Acta Biochimica Polonica
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2012
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tom 59
|
nr 4
 Diabetes is one of the major challenges of modern medicine, as it is considered a global epidemic of the XXI century. The disease often leads to the development of serious, health threatening complications. Diabetic foot syndrome is a characteristic set of anatomical and molecular changes. At the macroscopic level, major symptoms are neuropathy, ischemia and chronic ulceration of the lower limb. In every third patient, the neuropathy develops into Charcot neuroarthropathy characterized by bone and joints deformation. Interestingly, all these complications are a result of impaired healing processes and are characteristic for diabetes. The specificity of these symptoms comes from impaired molecular mechanisms observed in type 1 and type 2 diabetes. Decreased wound and fracture healing reflect gene expression, cellular response, cell functioning and general metabolism. Here we present a comprehensive literature update on the molecular factors contributing to diabetic foot syndrome.
6

Hair morphology of patients suffering from various types pf mucopolysaccaridoses, characterized by lysosomal storage of different glycosaminoglycans

76%
Malinowska M., Jakobkiewicz-Banecka J., Tylki-Szymanska A., Czartoryska B., Bodanowicz J., Wegrzyn G.
Acta Biochimica Polonica
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2006
|
tom 53
|
nr Supplement 1
7

Investigation of the relationship between plasma PLP and plasma homocysteine in ischemic stroke

76%
Sawula W., Jakobkiewicz-Banecka J., Nyka W., Wegrzyn G., Kadzinski L., Banecki B., Banecka-Majkutewicz Z.
Acta Biochimica Polonica
|
2003
|
tom 50
|
nr Supplement 1
8

Comparison of siRNA-mediated silencing of glycosaminoglycan synthesis genes and enzyme replacement therapy for mucopolysaccharidosis in cell culture studies

76%
Chmielarz I., Gabig-Ciminska M., Malinowska M., Banecka-Majkutewicz Z., Wegrzyn A., Jakobkiewicz-Banecka J.
Acta Biochimica Polonica
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2012
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tom 59
|
nr 4
Cytotoxicity of laronidase (Aldurazyme®), employed in enzyme replacement therapy (ERT) for mucopolysaccharidosis type I (MPS I) and various siRNAs, tested previously in studies on substrate reduction therapy (SRT) for mucopolysaccharidoses, was tested. The enzyme did not cause any cytotoxic effects, and the siRNAs did not inhibit growth of most investigated cell lines. However, some cytotoxic effects of some tested siRNAs were observed in one MPS IIIA cell line. The efficacy of a combination of enzyme replacement therapy and siRNA-based substrate deprivation therapy was tested on three MPS I cell lines. Surprisingly, different results were obtained for different cell lines. The decrease of glycosaminoglycan storage in cells treated simultaneously with both methods was: (i) less pronounced than obtained with either of those methods used alone in one cell line, (ii) similar to that observed for enzyme replacement therapy in another cell line, and (iii) stronger than that obtained with either of the methods used alone in the third cell line. Therefore, it appears that the effects of various therapeutic methods may strongly depend on the features of the MPS cell line.
9

Detection of the mutations in the methylenetetrahydrofolate reductase (MTHFR) and cystathionine -synthase (CBS) genes

76%
Kadzinski L., Wegrzyn G., Benecka-Majkutewicz Z., Nyka W., Sawula W., Benecki B., Jakobkiewicz-Banecka J.
Acta Biochimica Polonica
|
2003
|
tom 50
|
nr Supplement 1
10

Improved HPLC method for total plasma homocysteine detection and quantification

76%
Sawula W., Banecka-Majkutewicz Z., Kadzinski L., Jakobkiewicz-Banecka J., Wegrzyn G., Nyka W., Banecki B.
Acta Biochimica Polonica
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2008
|
tom 55
|
nr 1
Recent clinical research has pointed at hyperhomocysteinemia as an independent risk factor in a number of cardiovascular and neurological diseases. We have improved a chromatographic method of total plasma homocysteine measurements in order to obtain higher sensitivity, reliability and reproducibility. The method demonstrates excellent linearity (R = 0.999), range (< 2-100 µM), precision (instrumental RSD 0.06 and method RSD 1.17), accuracy (recovery of 99.92 and RSD 1.27), reproducibility, quantification limit and ruggedness (e.g. pH from 2.0 to 2.5). Because even a small increase in homocysteine level can be a significant risk factor of cardiovascular diseases, such a precise method is required. The constructed method allows the measurement of plasma pyridoxal phosphate, PLP, the co-enzyme form of vitamin B6, on the same column and similar reagents. The developed method has been successfully applied to measure both total plasma and serum homocysteine in a group of acute stroke patients.
11

Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure

52%
Pronicka E., Weglewska-Jurkiewicz A., Taybert J., Pronicki M., Szymanska-Debinska T., Karkucinska-Wieckowska A., Jakobkiewicz-Banecka J., Kowalski P., Piekutowska-Abramczuk D., Pajdowska M., Socha P., Sykut-Cegielska J., Wegrzyn G.
Journal of Applied Genetics
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2011
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tom 52
|
nr 1
Deoxyguanosine kinase deficiency (dGK) is a frequent cause of the hepatocerebral form of mitochondrial depletion syndrome (MDS). A group of 28 infants with severe progressive liver failure of unknown cause was recruited for post mortem search for deoxyguanosine kinase (DGUOK) gene mutations. Four affected patients (14% of the studied group), two homozygotes, one compound heterozygote, and one heterozygote, with DGUOK mutation found on only one allele, were identified. Three known pathogenic mutations in the DGUOK gene were detected, c.3G>A (p.Met1Ile), c.494A>T (p.Glu165Val), and c.766_767insGATT (p.Phe256X), and one novel molecular variant of unknown pathogeneity, c.813_814insTTT (p. Asn271_Thr272insPhe). Profound mitochondrial DNA depletion was confirmed in available specimens of the liver (4%, 15%, and 10% of the normal value) and in the muscle (4%, 23%, 45%, and 6%, respectively). The patients were born with low weights for gestational age and they presented adaptation trouble during the first days of life. Subsequently, liver failure developed, leading to death at the ages of 18, 6, 5.5, and 2.25 months, respectively. Mild neurological involvement was observed in all children (hypotonia, psychomotor retardation, and ptosis). Hypoglycemia (hypoketotic) and lactic acidosis were the constant laboratory findings. Elevated transferrin saturation, high ferritin, and alpha-fetoprotein levels resembled, in two cases, a neonatal hemochromatosis. Liver histopathology showed severe hepatic damage ranging from micronodular formation and cirrhosis to the total loss of liver architecture with diffuse fibrosis and neocholangiolar proliferation. Pancreatic islet cell hyperplasia with numerous confluent giant islets was found in both autopsied infants. Analysis of the natural history of the disease in our patients and the literature data led us to the following observations: (i) islet cell hyperplasia (and hyperinsulinism) may contribute to MDSassociated hypoglycemia; (ii) iron overload may additionally damage mtDNA-depleted tissues; (iii) low birth weight, adaptation trouble, and abnormal amino acids in newborn screening are frequent in dGK-deficient neonates.
12

Clinical parameters of inflammatory bowel disease in children do not correlate with four common polymorphisms of the transforming growth factor beta1 gene

52%
Liberek A., Jakobkiewicz-Banecka J., Kloska A., Swiderska J., Kmiec Z., Luczak G., Wierzbicki P., Liberek T., Marek K., Plata-Nazar K., Sikorska-Wisniewska G., Kaminska B., Wegrzyn G.
Acta Biochimica Polonica
|
2011
|
tom 58
|
nr 4
Transforming growth factor β1 (TGF-β1) is a cytokine affecting cell proliferation and development, which also has an immunomodulatory activity. Correlations between polymorphisms of the TGF-β1 gene and clinical parameters of inflammatory bowel disease (IBD) were reported previously in adults. Here, we tested whether such correlations occur in pediatric patients suffering from IBD. One hundred and four pediatric IBD patients were involved in this study. Among them, 36 were diagnosed with Crohn's Disease (CD) and 68 were diagnosed with ulcerative colitis (UC). The control group consisted of 103 children, in which IBD was excluded. TGF-β1 levels were determined in plasma and intestinal mucosa samples. The presence of the TGF β1 protein and the amount of TGF β1 mRNA were estimated in intestinal mucosa by immunohistochemistry and reverse transcription Real-Time PCR, respectively. Four common polymorphisms of the TGF-β1 gene were investigated: -800G/A, -509C/T, 869T/C and 915G/C. No significant correlation between TGF-β1 genotypes and (i) TGF-β1 levels in plasma and tissue samples, (ii) TGF-β1 gene expression efficiency in intestinal mucosa, (iii) IBD clinical parameters and (iv) inflammatory activity could be detected in children suffering from IBD. We conclude that, contrary to previous suggestions, the four common polymorphisms of the TGF-β1 gene do not influence the susceptibility to or clinical parameters of IBD in the tested population of children.
13

Transforming growth factor beta1 protein and mRNA levels in inflammatory bowel diseases: towards solving the contradictions by longitudinal assessment of the protein and mRNA amounts

52%
Liberek A., Kmiec Z., Wierzbicki P. M., Jakobkiewicz-Banecka J., Liberek T., Luczak G., Plata-Nazar K., Slominska-Fraczek M., Kaszubowska L., Gabik-Ciminska M., Wegrzyn A.
Acta Biochimica Polonica
|
2013
|
tom 60
|
nr 4
Previously published studies on levels of the transforming growth factor-β1 (TGF-β1) protein and mRNA of the corresponding gene in patients suffering from inflammatory bowel diseases (IBD) gave varying results, leading to contradictory conclusions. To solve the contradictions, we aimed to assess longitudinally TGF-β1 protein and mRNA levels at different stages of the disease in children suffering from IBD. The study group consisted of 19 pediatric patients with IBD at the age between 3.5 and 18.4 years. The control group consisted of 42 children aged between 2.0 and 18.0 years. The plasma TGF-β1 concentration was measured with ELISA. mRNA levels of the TGF-β1 gene isolated from samples of the intestinal tissue were assessed by reverse transcription and real-time PCR. Levels of TGF-β1 protein in plasma and corresponding mRNA in intestinal tissue were significantly higher in IBD patients than in controls. TGF-β1 and corresponding transcripts were also more abundant in plasma and intestinal tissue, respectively, in patients at the active stage of the disease than during remission. In every single IBD patient, plasma TGF-β1 level and mRNA level in intestinal tissue was higher at the active stage of the disease than during remission. Levels of TGF-β1 and corresponding mRNA are elevated during the active stage of IBD but not during the remission. Longitudinal assessment of this cytokine in a single patient may help to monitor the clinical course of IBD.
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