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001-es BibID:	BIBFORM012944
Első szerző:	Góth László (analitikus)
Cím:	Polymorphism of 5' of the catalase gene in Hungarian acatalasemia and hypocatalasemia / László Góth, Márta Vitai
Dátum:	1997
Megjegyzések:	The amplified fragment length polymorphism of Hinfl on the promoter region of the catalase gene in Hungarian acatalasemic and hypocatalasemic patients yielded three different patterns with five bands in total. The sequence analyses revealed A-to-T, C-to-A, and C-to-T mutations at positions -21, -20, and -18 upstream of the translational initiation site. The -21 A-to-T mutations were more frequent in acatalasemic and hypocatalasemic patients (3612) than in controls (18114). This mutation had been detected in Japanese acatalasemic patients while the other two are novel mutations. Two extra bands in the Hinfl pattern are due to star-like activity that cleaved a G/ATTT sequence at position -4 to 0 upstream of the initiation site.
Tárgyszavak:	Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban Hungarian acatalasemia Hypocatalasemia Hinfl Nucleotide sequence Star effect
Megjelenés:	Electrophoresis. - 18 : 7 (1997), p. 1105-1108. -
További szerzők:	Vitai Márta (1961-) (okleveles vegyész)
Internet cím:	Intézményi repozitóriumban (DEA) tárolt változat DOI
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001-es BibID:	BIBFORM012946
Első szerző:	Góth László (analitikus)
Cím:	Detection of a novel familial catalase mutation (Hungarian type D) and the possible risk of inherited catalase deficiency for diabetes mellitus / László Góth, Márta Vitai, Péter Rass, Eszter Sükei, Anikó Páy
Dátum:	2005
Megjegyzések:	The enzyme catalase is the main regulator of hydrogen peroxide metabolism. Recent findings suggest that a low concentration of hydrogen peroxide may act as a messenger in some signalling pathways whereas high concentrations are toxic for many cells and cell components. Acatalasemia is a genetically heterogeneous condition with a worldwide distribution. Yet only two Japanese and three Hungarian syndrome-causing mutations have been reported. A large-scale (23130 subjects) catalase screening program in Hungary yielded 12 hypocatalasemic families. The V family with four hypocatalasemics (60.6 ± 7.6 MU/L) and six normocatalasemic (103.6 ± 23.5 MU/L) members was examined to define the mutation causing the syndrome. Mutation screening yielded four novel polymorphisms. Of these, three intron sequence variations, namely GA at the nucleotide 60 position in intron 1, TA at position 11 in intron 2, and GT at position 31 in intron 12, are unlikely to be responsible for the decreased blood catalase activity. However, the novel GA mutation in exon 9 changes the essential amino acid Arg 354 to Cys 354 and may indeed be responsible for the decreased catalase activity. This inherited catalase deficiency, by inducing an increased hydrogen peroxide steady-state concentration in vivo, may be involved in the early manifestation of type 2 diabetes mellitus for the 35-year old proband.
Tárgyszavak:	Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban Blood catalase activity Catalase mutation Diabetes mellitus
Megjelenés:	Electrophoresis. - 26 : 9 (2005), p. 1646-1649. -
További szerzők:	Vitai Márta (1961-) (okleveles vegyész) Rass Péter Sükei Eszter Páy Anikó
Internet cím:	DOI Intézményi repozitóriumban (DEA) tárolt változat
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