142 FURTHER EVIDENCE FOR A ‘NEW’ PURINE DEFECT, INOSINE TRIPHOSPHATE (ITP) PYROPHOSPHOHYDROLASE DEFICIENCY
نویسندگان
چکیده
منابع مشابه
study of inosine triphosphate pyrophosphohydrolase gene expression in k562 cells
objective: the itpa gene is responsible to remove free deaminated purine nucleotides of itp, ditp and xtp from nucleotide pool of the cells. it seems that dysfunction in its activity, not only can increas the base substitution mutations frequency but also can works as a contrived factor to creating instability in genetic materials of the cells. there are several reports about the existence of s...
متن کاملMeasurement of erythrocyte inosine triphosphate pyrophosphohydrolase (ITPA) activity by HPLC and correlation of ITPA genotype-phenotype in a Caucasian population.
BACKGROUND Inosine triphosphate (ITP) pyrophosphohydrolase (ITPA) catalyzes the pyrophosphohydrolysis of ITP/dITP and xanthosine triphosphate to prevent incorporation of unusual nucleotides into RNA and DNA. Important mutations leading to enzyme deficiency are 94C>A and IVS2 + 21A>C. An association between ITPA 94C>A and adverse reactions during azathioprine treatment has been shown. To investi...
متن کاملSolution structure of the MutT enzyme, a nucleoside triphosphate pyrophosphohydrolase.
The MutT enzyme (129 residues) catalyzes the hydrolysis of normal and mutagenic nucleoside triphosphates, such as 8-oxo-dGTP, by substitution at the rarely attacked beta-P, to yield NMP and pyrophosphate. Previous heteronuclear NMR studies of MutT have shown the secondary structure to consist of a five-stranded mixed beta-sheet connected by the loop I-alpha-helix I--loop II motif, by two tight ...
متن کاملInosine Triphosphate Pyrophosphohydrolase (ITPA) polymorphic sequence variants in adult hematological malignancy patients and possible association with mitochondrial DNA defects
BACKGROUND Inosine triphosphate pyrophosphohydrolase (ITPase) is a 'house-cleaning' enzyme that degrades non-canonical ('rogue') nucleotides. Complete deficiency is fatal in knockout mice, but a mutant polymorphism resulting in low enzyme activity with an accumulation of ITP and other non-canonical nucleotides, appears benign in humans. We hypothesised that reduced ITPase activity may cause acq...
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REFERENCES 1 Harari S, Caminati A. Pulmonary Langerhans’ cell histiocytosis. Eur Respir Mon 2009; 46: 155–175. 2 Weinshilboum R, Wang L. Pharmacogenomics: bench to bedside. Nat Rev Drug Discov 2004; 3: 739–748. 3 Bakker JA, Bierau J, Drent M. Therapeutic regimens in interstitial lung disease guided by genetic screening: fact or fiction?Eur Respir J 2007; 30: 821–822. 4 Coulthard S, Hogarth L. T...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1988
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-198807000-00166