Search Results - "Hnízda, Ales"

Mechanisms of NT5C2 -Mediated Thiopurine Resistance in Acute Lymphoblastic Leukemia by Moriyama, Takaya, Liu, Shuguang, Li, Jing, Meyer, Julia, Zhao, Xujie, Yang, Wentao, Shao, Youming, Heath, Richard, Hnízda, Aleš, Carroll, William L, Yang, Jun J

“…Relapse remains a formidable challenge for acute lymphoblastic leukemia (ALL). Recently, recurrent mutations in were identified as a common genomic lesion…”
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Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females by Zikánová, Marie, Wahezi, Dawn, Hay, Arielle, Stibůrková, Blanka, Pitts, Charles, Mušálková, Dita, Škopová, Václava, Barešová, Veronika, Součková, Olga, Hodaňová, Kateřina, Živná, Martina, Stránecký, Viktor, Hartmannová, Hana, Hnízda, Ales, Bleyer, Anthony J, Kmoch, Stanislav

“…Abstract Objectives Phosphoribosylpyrophosphate synthetase (PRPS1) superactivity is an X-linked disorder characterized by urate overproduction Online Mendelian…”
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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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Conserved roles of C. elegans and human MANFs in sulfatide binding and cytoprotection by Bai, Meirong, Vozdek, Roman, Hnízda, Aleš, Jiang, Chenxiao, Wang, Bingying, Kuchar, Ladislav, Li, Tiejun, Zhang, Yuefan, Wood, Chase, Feng, Liang, Dang, Yongjun, Ma, Dengke K.

“…Mesencephalic astrocyte-derived neurotrophic factor (MANF) is an endoplasmic reticulum (ER) protein that can be secreted and protects dopamine neurons and…”
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PDGFRB mutation and tyrosine kinase inhibitor resistance in Ph-like acute lymphoblastic leukemia by Zhang, Yingchi, Gao, Yufeng, Zhang, Hui, Zhang, Jingliao, He, Fuhong, Hnízda, Aleš, Qian, Maoxiang, Liu, Xiaoming, Gocho, Yoshihiro, Pui, Ching-Hon, Cheng, Tao, Wang, Qianfei, Yang, Jun J., Zhu, Xiaofan, Liu, Xin

“…Philadelphia chromosome (Ph)-like acute lymphoblastic leukemia (ALL) comprises ∼10% to 15% of childhood ALL cases, many of which respond exquisitely to…”
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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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Structural Basis for Inhibition of Mycobacterial and Human Adenosine Kinase by 7‑Substituted 7‑(Het)aryl-7-deazaadenine Ribonucleosides by Snášel, Jan, Nauš, Petr, Dostál, Jiří, Hnízda, Aleš, Fanfrlík, Jindřich, Brynda, Jiří, Bourderioux, Aurelie, Dušek, Michal, Dvořáková, Hana, Stolaříková, Jiřina, Zábranská, Helena, Pohl, Radek, Konečný, Petr, Džubák, Petr, Votruba, Ivan, Hajdúch, Marián, Řezáčová, Pavlína, Veverka, Václav, Hocek, Michal, Pichová, Iva

“…Adenosine kinase (ADK) from Mycobacterium tuberculosis (Mtb) was selected as a target for design of antimycobacterial nucleosides. Screening of…”
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Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis by Kmochová, Tereza, Kidd, Kendrah O, Orr, Andrew, Hnízda, Aleš, Hartmannová, Hana, Hodaňová, Kateřina, Vyleťal, Petr, Naušová, Karolína, Brinsa, Vítězslav, Trešlová, Helena, Sovová, Jana, Barešová, Veronika, Svojšová, Klára, Vrbacká, Alena, Stránecký, Viktor, Robins, Victoria C, Taylor, Abbigail, Martin, Lauren, Rivas-Chavez, Ana, Payne, Riley, Bleyer, Heidi A, Williams, Adrienne, Rennke, Helmut G, Weins, Astrid, Short, Patrick J, Agrawal, Varun, Storsley, Leroy J, Waikar, Sushrut S, McPhail, Ellen D, Dasari, Surendra, Leung, Nelson, Hewlett, Tom, Yorke, Jake, Gaston, Daniel, Geldenhuys, Laurette, Samuels, Mark, Levine, Adam P, West, Michael, Hůlková, Helena, Pompach, Petr, Novák, Petr, Weinberg, Richard B, Bedard, Karen, Živná, Martina, Sikora, Jakub, Bleyer, Sr, Anthony J, Kmoch, Stanislav

“…Sporadic cases of apolipoprotein A-IV medullary amyloidosis have been reported. Here we describe five families found to have autosomal dominant medullary…”
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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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Bi-allelic REN Mutations and Undetectable Plasma Renin Activity in a Patient With Progressive CKD by Jorge, Sofia, Kidd, Kendrah, Vylet’al, Petr, Nogueira, Estela, Martin, Lauren, Howard, Katrice, Barešová, Veronika, Hodaňová, Kateřina, Hnízda, Aleš, Moldovan, Oana, Silveira, Catarina, Coutinho, Ana Margarida, Lopes, José António, Bleyer, Anthony J., Kmoch, Stanislav, Živná, Martina

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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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