Search Results - "Hnizda, Ales"

Multicomponent assemblies in DNA-double-strand break repair by NHEJ by Hnízda, Aleš, Blundell, Tom L

“…Non-homologous end joining (NHEJ), a process for repair of DNA-breaks that does not require a DNA-template, involves synapsis, end-processing and ligation…”
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Dimers of DNA-PK create a stage for DNA double-strand break repair by Chaplin, Amanda K., Hardwick, Steven W., Liang, Shikang, Kefala Stavridi, Antonia, Hnizda, Ales, Cooper, Lee R., De Oliveira, Taiana Maia, Chirgadze, Dimitri Y., Blundell, Tom L.

“…DNA double-strand breaks are the most dangerous type of DNA damage and, if not repaired correctly, can lead to cancer. In humans, Ku70/80 recognizes DNA broken…”
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Thiopurine intolerance-causing mutations in NUDT15 induce temperature-dependent destabilization of the catalytic site by Man, Petr, Fábry, Milan, Sieglová, Irena, Kavan, Daniel, Novák, Petr, Hnízda, Aleš

“…Germline mutations in NUDT15 cause thiopurine intolerance during treatment of leukemia or autoimmune diseases. Previously, it has been shown that the mutations…”
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Mechanism of efficient double-strand break repair by a long non-coding RNA by Thapar, Roopa, Wang, Jing L, Hammel, Michal, Ye, Ruiqiong, Liang, Ke, Sun, Chengcao, Hnizda, Ales, Liang, Shikang, Maw, Su S, Lee, Linda, Villarreal, Heather, Forrester, Isaac, Fang, Shujuan, Tsai, Miaw-Sheue, Blundell, Tom L, Davis, Anthony J, Lin, Chunru, Lees-Miller, Susan P, Strick, Terence R, Tainer, John A

“…Abstract Mechanistic studies in DNA repair have focused on roles of multi-protein DNA complexes, so how long non-coding RNAs (lncRNAs) regulate DNA repair is…”
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SAP domain forms a flexible part of DNA aperture in Ku70/80 by Hnízda, Aleš, Tesina, Petr, Nguyen, Thanh‐Binh, Kukačka, Zdeněk, Kater, Lukas, Chaplin, Amanda K., Beckmann, Roland, Ascher, David B., Novák, Petr, Blundell, Tom L.

“…Nonhomologous end joining (NHEJ) is a DNA repair mechanism that religates double‐strand DNA breaks to maintain genomic integrity during the entire cell cycle…”
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Novel structural arrangement of nematode cystathionine β-synthases: characterization of Caenorhabditis elegans CBS-1 by Vozdek, Roman, Hnízda, Aleš, Krijt, Jakub, Kostrouchová, Marta, Kožich, Viktor

“…CBSs (cystathionine β-synthases) are eukaryotic PLP (pyridoxal 5 *-phosphate)-dependent proteins that maintain cellular homocysteine homoeostasis and produce…”
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PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome by Pelet, Anna, Skopova, Vaclava, Steuerwald, Ulrike, Baresova, Veronika, Zarhrate, Mohammed, Plaza, Jean-Marc, Hnizda, Ales, Krijt, Matyas, Souckova, Olga, Wibrand, Flemming, Andorsdóttir, Guðrið, Joensen, Fróði, Sedlak, David, Bleyer, Anthony J, Kmoch, Stanislav, Lyonnet, Stanislas, Zikanova, Marie

“…Abstract We report for the first time an autosomal recessive inborn error of de novo purine synthesis (DNPS)—PAICS deficiency. We investigated two siblings…”
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Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate by Melenovská, Petra, Kopecká, Jana, Krijt, Jakub, Hnízda, Aleš, Raková, Kateřina, Janošík, Miroslav, Wilcken, Bridget, Kožich, Viktor

“…Classical homocystinuria is caused by mutations in the cystathionine β-synthase ( CBS ) gene. Previous experiments in bacterial and yeast cells showed that…”
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Relapsed acute lymphoblastic leukemia-specific mutations in NT5C2 cluster into hotspots driving intersubunit stimulation by Hnízda, Aleš, Fábry, Milan, Moriyama, Takaya, Pachl, Petr, Kugler, Michael, Brinsa, Vítězslav, Ascher, David B., Carroll, William L., Novák, Petr, Žaliová, Markéta, Trka, Jan, Řezáčová, Pavlína, Yang, Jun J., Veverka, Václav

“…Activating mutations in NT5C2, a gene encoding cytosolic purine 5′-nucleotidase (cN-II), confer chemoresistance in relapsed acute lymphoblastic leukemia. Here…”
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Conformational Properties of Nine Purified Cystathionine β-Synthase Mutants by Hnízda, Aleš, Majtan, Tomas, Liu, Lu, Pey, Angel L, Carpenter, John F, Kodíček, Milan, Kožich, Viktor, Kraus, Jan P

“…Protein misfolding due to missense mutations is a common pathogenic mechanism in cystathionine β-synthase (CBS) deficiency. In our previous studies, we…”
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Cystathionine beta-synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts by Hnízda, Aleš, Jurga, Vojtěch, Raková, Kateřina, Kožich, Viktor

“…Protein misfolding has been proposed to be a common pathogenic mechanism in many inborn errors of metabolism including cystathionine β-synthase (CBS)…”
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Cross-Talk between the Catalytic Core and the Regulatory Domain in Cystathionine β-Synthase: Study by Differential Covalent Labeling and Computational Modeling by Hnízda, Aleš, Spiwok, Vojtěch, Jurga, Vojtěch, Kožich, Viktor, Kodíček, Milan, Kraus, Jan P

“…Cystathionine β-synthase (CBS) is a modular enzyme which catalyzes condensation of serine with homocysteine. Cross-talk between the catalytic core and the…”
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Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency by Zikanova, Marie, Skopova, Vaclava, Hnizda, Ales, Krijt, Jakub, Kmoch, Stanislav

“…Adenylosuccinate lyase (ADSL) deficiency is neurometabolic disease characterized by accumulation of dephosphorylated enzyme substrates SAICA-riboside (SAICAr)…”
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Biochemical properties of nematode O-acetylserine(thiol)lyase paralogs imply their distinct roles in hydrogen sulfide homeostasis by Vozdek, Roman, Hnízda, Aleš, Krijt, Jakub, Šerá, Leona, Kožich, Viktor

“…O-Acetylserine(thiol)lyases (OAS-TLs) play a pivotal role in a sulfur assimilation pathway incorporating sulfide into amino acids in microorganisms and plants,…”
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Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency by Krijt, Jakub, Kopecká, Jana, Hnízda, Aleš, Moat, Stuart, Kluijtmans, Leo A. J, Mayne, Philip, Kožich, Viktor

“…Cystathionine β-synthase (CBS) deficiency is usually confirmed by assaying the enzyme activity in cultured skin fibroblasts. We investigated whether CBS is…”
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Oligomeric interface modulation causes misregulation of purine 5´-nucleotidase in relapsed leukemia by Hnízda, Aleš, Škerlová, Jana, Fábry, Milan, Pachl, Petr, Šinalová, Martina, Vrzal, Lukáš, Man, Petr, Novák, Petr, Řezáčová, Pavlína, Veverka, Václav

“…Relapsed acute lymphoblastic leukemia (ALL) is one of the main causes of mortality in childhood malignancies. Previous genetic studies demonstrated that…”
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Correction to Conformational Properties of Nine Purified Cystathionine β-Synthase Mutants by Hnı́zda, Aleš, Majtan, Tomas, Liu, Lu, Pey, Angel L, Carpenter, John F, Kodı́ček, Milan, Kožich, Viktor, Kraus, Jan P

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Conformationally constrained nucleoside phosphonic acids--potent inhibitors of human mitochondrial and cytosolic 5'(3')-nucleotidases by Šimák, Ondřej, Pachl, Petr, Fábry, Milan, Buděšínský, Miloš, Jandušík, Tomáš, Hnízda, Aleš, Skleničková, Radka, Petrová, Magdalena, Veverka, Václav, Řezáčová, Pavlína, Brynda, Jiří, Rosenberg, Ivan

“…This work describes novel in vitro inhibitors of human mitochondrial (mdN) and cytosolic (cdN) 5'(3')-deoxynucleotidases. We designed a series of derivatives…”
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Backbone resonance assignments of human cytosolic dNT-1 nucleotidase by Hnízda, Aleš, Skleničková, Radka, Pachl, Petr, Fábry, Milan, Tošner, Zdeněk, Brynda, Jiří, Veverka, Václav

“…Cytosolic dNT-1 nucleotidase plays a key role in the homeostasis of pyrimidine deoxyribonucleotides in mammalian cells. The enzyme is responsible for the…”
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Molecular characterization of the AdeI mutant of Chinese hamster ovary cells: A cellular model of adenylosuccinate lyase deficiency by Vliet, Lydia K., Wilkinson, Terry G., Duval, Nathan, Vacano, Guido, Graham, Christine, Zikánová, Marie, Skopova, Vaclava, Baresova, Veronika, Hnízda, Aleš, Kmoch, Stanislav, Patterson, David

“…Adenylosuccinate lyase (ADSL, E. C. 4.3.2.2) carries out two non-sequential steps in de novo AMP synthesis, the conversion of succinylaminoimidazole…”
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