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001-es BibID:	BIBFORM045677
Első szerző:	Góth László (analitikus)
Cím:	Genetic heterogeneity in acatalasemia / Goth L., Pay A.
Dátum:	1996
ISSN:	0173-0835
Megjegyzések:	203 bp long products containing exon 4 and its junctions from the catalase gene were generated by polymerase chain reaction (PCR). These products were analyzed by single strand conformational polymorphism (SSCP), hetero-duplex formation and nucleotide sequencing. No polymorphism was detected when the Hungarian acatalasemic sisters, their family members and normocatalasemic controls were analyzed. Sequence analyses did not show the G to A point mutation at position 5 of intron 4. This splicing mutation characterizes the Japanese-type of acatalasemia.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban Hungarian acatalsemia G to A splicing mutation single strand conformational polymorphism heteroduplex nucleotide sequennce
Megjelenés:	Electrophoresis. - 17 : 8 (1996), p. 1302-1303. -
További szerzők:	Páy Anikó
Internet cím:	Intézményi repozitóriumban (DEA) tárolt változat DOI
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001-es BibID:	BIBFORM042789
Első szerző:	Góth László (analitikus)
Cím:	Catalase enzyme mutations and their association with diseases / László Góth, Péter Rass, Anikó Páy
Dátum:	2004
Megjegyzések:	Enzyme catalase seems to be the main regulator of hydrogen peroxide metabolism. Hydrogen peroxide at high concentration is a toxic agent, while at low concentrations it appears to modulate some physiological processes such as signaling in cell proliferation, apoptosis, carbohydrate metabolism, and platelet activation.Benign catalase gene mutations of 5' noncoding region (15) and intron 1 (4) have no effect on catalase activity and are not associated with diseases. Catalase gene mutations have been detected in association with diabetes mellitus, hypertension, and vitiligo. Decrease in catalase activity in patients with tumors is more likely to be due decreased enzyme synthesis rather than to catalase mutations.Acatalasemia, the inherited deficiency of catalase has been detected in 11 countries. Its clinical features might be oral gangrene, altered lipid, carbohydrate, homocysteine metabolism and the increased risk of diabetes mellitus. The Japanese, Swiss, and Hungarian acatalasemia display differences in biochemical and genetic aspects. However, there are only limited reports on the syndrome causing mutations.These data show that acatalasemia may be a syndrome with clinical, biochemical, genetic characteristics rather than just a simple enzyme defect.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban hidrogén-peroxid a humán szövetekben kataláz enzim acatalasemia kataláz mutációk
Megjelenés:	Molecular Diagnosis. - 8 : 3 (2004), p. 141-149. -
További szerzők:	Rass Péter Páy Anikó
Pályázati támogatás:	MTA Zsigmond Diabetes Alapítvány Egyéb T O42985 OTKA
Internet cím:	Intézményi repozitóriumban (DEA) tárolt változat
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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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