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001-es BibID:	BIBFORM042744
Első szerző:	Góth László (analitikus)
Cím:	Acatalasemia and diabetes mellitus / László Góth, Teréz Nagy
Dátum:	2012
Megjegyzések:	The enzyme catalase catalyzes the breakdown of hydrogen peroxide into oxygen and water. It is the mainregulator of hydrogen peroxide metabolism. Hydrogen peroxide is a highly reactive small moleculeformed as a natural byproducts of energy metabolism. Excessive concentrations may cause significantdamages to protein, DNA, RNA and lipids. Low levels in muscle cells, facilitate insulin signaling. Acatalasemiais a result of the homozygous mutations in the catalase gene, has a worldwide distribution with 12known mutations. Increased hydrogen peroxide, due to catalase deficiency, plays a role in the pathogenesisof several diseases such as diabetes mellitus. Diabetes mellitus is a disorder caused by multiplegenetic and environmental factors. Examination of Hungarian diabetic and acatalasemic patients showedthat an increased frequency of catalase gene mutations exists among diabetes patients. Inherited catalasedeficiency may increase the risk of type 2 diabetes mellitus, especially for females. Early onset of type 2diabetes occurs with inherited catalase deficiency. Low levels of SOD and glutathione peroxidase couldcontribute to complications caused by increased oxidative stress.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban acatalasemia diabetes reactive oxygen species catalse hydrogen peroxide
Megjelenés:	Arcives of Biochemistry and Biophysics. - 525 : 2 (2012), p. 195-200. -
További szerzők:	Nagy Teréz (1971-) (molekuláris biológus)
Pályázati támogatás:	T 71902 OTKA
Internet cím:	DOI Intézményi repozitóriumban (DEA) tárolt változat
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001-es BibID:	BIBFORM045358
035-os BibID:	PMID:22286031
Első szerző:	Nagy Teréz (molekuláris biológus)
Cím:	A simple method for examination of polymorphisms of catalase exon 9: rs769217 in Hungarian microcytic anemia and beta-thalassemia patients / Nagy T., Csordás M., Kósa Zs., Góth L.
Dátum:	2012
ISSN:	0003-9861
Megjegyzések:	Catalase decreases the high, toxic concentrations of hydrogen peroxide but it lets the physiological, low concentrations in the cells mainly for signaling purposes. Its decreased activity may contribute to development of several pathological conditions. Catalase mutations occur frequently in exon 9, these were examined with different, complicated and costly methods. The aim of the current study was to evaluate a method for screening of polymorphisms in catalase exon 9. We used the slab gel electrophoresis of PCR amplicons without denaturation and silver staining for visualization of the DNA bands. We detected extra DNA bands in the 400-800 bp region of the catalase exon 9. Their single stranded nature was proved with nucleotide sequence analyses, comparison with the standard SSCP, staining with Sybr Green II and Sybr Green I, ethidium bromide, no digestion with RFLP (BstX I), and digestion with plant nuclease. We used this method for examination of polymorphisms of catalase exon 9 in microcytic anemia and beta-thalassemia patients. The lowest blood catalase activities were detected in microcytic anemia and beta-thalassemia patients with the TT genotypes of the C111T polymorphism. This method was sensitive for detection of G113A acatalasemia mutation, but poorly detected C37T and G5A acatalasemia mutations.
Tárgyszavak:	Természettudományok Kémiai tudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:	Archives of Biochemistry and Biophysics 525 : 2 (2012), p. 201-206. -
További szerzők:	Csordás Melinda Kósa Zsuzsanna Góth László (1943-) (analitikus)
Internet cím:	DOI Intézményi repozitóriumban (DEA) tárolt változat
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