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| Description
| - Two inherited deficiencies have been described in purine de novo synthesis pathway. Both the defects are diagnosed by detecting ribosides-dephosphorylated substrates of the enzymes-in patient's urine. We describe here a synthesis and mass spectrometric fragmentation of ribosides potentially of diagnostic importance for defects in the second part of the pathway. All the species, except 5-amino-4-imidazolesuccinocarboxamideriboside can be synthesized from the commercially available 5-amino-4-imidazolecarboxamideriboside by chemical methods. Fragmentation spectra of the compounds were obtained by the ion trap mass spectrometry. During fragmentation an opening of the imidazole ring was not observed for any of the compounds but loss of its substituents in the form of small molecules (NH3, CO2, CO) is the major route of fragmentation. The ribose moiety cleaves off molecule(s) of water, undergoes a cross-ring cleavage or breaks away as a whole. Copyright (C) Taylor & Francis Group, LLC.
- Two inherited deficiencies have been described in purine de novo synthesis pathway. Both the defects are diagnosed by detecting ribosides-dephosphorylated substrates of the enzymes-in patient's urine. We describe here a synthesis and mass spectrometric fragmentation of ribosides potentially of diagnostic importance for defects in the second part of the pathway. All the species, except 5-amino-4-imidazolesuccinocarboxamideriboside can be synthesized from the commercially available 5-amino-4-imidazolecarboxamideriboside by chemical methods. Fragmentation spectra of the compounds were obtained by the ion trap mass spectrometry. During fragmentation an opening of the imidazole ring was not observed for any of the compounds but loss of its substituents in the form of small molecules (NH3, CO2, CO) is the major route of fragmentation. The ribose moiety cleaves off molecule(s) of water, undergoes a cross-ring cleavage or breaks away as a whole. Copyright (C) Taylor & Francis Group, LLC. (en)
- V purinové de novo syntéze byly popsány dva dědičné deficity. Oba tyto enzymové defekty jsou diagnostikovány detekcí ribosidů - defosforylovaných substrátů enzymů - v moči pacienta. Popisujeme zde syntézu a hmotnostně spektrofotometrickou fragmentaci ribosidů, které mají potenciální význam pro diagnostiku defektů ve druhé polovině dráhy. Všechny látky kromě 5-amino-4-imidazolsukcinokarboxamidribosidu byly syntetizovány chemicky z komerčně dostupného 5-amino-4-imidazolkarboxamidribosidu. Fragmentační spektra sloučenin byla získána analýzou na hmotnostním spektrofotometru s iontovou pastí. Během fragmentace nebylo pozorováno otevírání imidazolového kruhu u žádné ze sloučenin. Hlavní směr fragmentace byl dán postupnou ztrátou substituentů ve formě malých molekul (NH3, CO2, CO). Fragmentace ribosové části byla dána ztrátou molekul vody s následným rozbitím kruhu nebo jeho odštípnutím od imidazolového kruhu jako celku. (cs)
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| Title
| - Synthesis and mass spectrometric fragmentation characteristics of imidazole ribosides-analogs of intermediates of purine de novo synthetic pathway
- Synthesis and mass spectrometric fragmentation characteristics of imidazole ribosides-analogs of intermediates of purine de novo synthetic pathway (en)
- Syntéza a charakteristická hmotnostně spektrofotometrická fragmentace imidazolových ribosidů - analoga meziproduktů purinové de novo syntézy. (cs)
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| skos:prefLabel
| - Synthesis and mass spectrometric fragmentation characteristics of imidazole ribosides-analogs of intermediates of purine de novo synthetic pathway
- Synthesis and mass spectrometric fragmentation characteristics of imidazole ribosides-analogs of intermediates of purine de novo synthetic pathway (en)
- Syntéza a charakteristická hmotnostně spektrofotometrická fragmentace imidazolových ribosidů - analoga meziproduktů purinové de novo syntézy. (cs)
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| skos:notation
| - RIV/61989592:15110/06:00003197!RIV07-MZ0-15110___
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| http://linked.open.../vavai/riv/strany
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| http://linked.open...avai/riv/aktivita
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| http://linked.open...avai/riv/aktivity
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| http://linked.open...iv/cisloPeriodika
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| http://linked.open...vai/riv/dodaniDat
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| http://linked.open...aciTvurceVysledku
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| http://linked.open.../riv/druhVysledku
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| http://linked.open...iv/duvernostUdaju
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| http://linked.open...titaPredkladatele
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| http://linked.open...dnocenehoVysledku
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| http://linked.open...ai/riv/idVysledku
| - RIV/61989592:15110/06:00003197
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| http://linked.open...riv/jazykVysledku
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| http://linked.open.../riv/klicovaSlova
| - Inherited defects; Metabolism; Purine de novo synthesis (en)
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| http://linked.open.../riv/klicoveSlovo
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| http://linked.open...odStatuVydavatele
| - US - Spojené státy americké
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| http://linked.open...ontrolniKodProRIV
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| http://linked.open...i/riv/nazevZdroje
| - Nucleosides Nucleotides Nucleic Acids
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| http://linked.open...in/vavai/riv/obor
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| http://linked.open...ichTvurcuVysledku
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| http://linked.open...cetTvurcuVysledku
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| http://linked.open...vavai/riv/projekt
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| http://linked.open...UplatneniVysledku
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| http://linked.open...v/svazekPeriodika
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| http://linked.open...iv/tvurceVysledku
| - Lemr, Karel
- Adam, Tomáš
- Friedecký, David
- Fryčák, Petr
- Horník, P.
- Vyskočilová, P.
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| issn
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| number of pages
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| http://localhost/t...ganizacniJednotka
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