| Heterozygous loss-of-function SEC61A1 mutations cause autosomal-dominant tubulo-interstitial and glomerulocystic kidney disease with anemia NA Bolar, C Golzio, M Živná, G Hayot, C Van Hemelrijk, D Schepers, ... The American Journal of Human Genetics 99 (1), 174-187, 2016 | 170 | 2016 |
| Dimers of DNA-PK create a stage for DNA double-strand break repair AK Chaplin, SW Hardwick, S Liang, A Kefala Stavridi, A Hnizda, ... Nature structural & molecular biology 28 (1), 13-19, 2021 | 86 | 2021 |
| Conserved roles of C. elegans and human MANFs in sulfatide binding and cytoprotection M Bai, R Vozdek, A Hnízda, C Jiang, B Wang, L Kuchar, T Li, Y Zhang, ... Nature communications 9 (1), 897, 2018 | 83 | 2018 |
| PDGFRB mutation and tyrosine kinase inhibitor resistance in Ph-like acute lymphoblastic leukemia Y Zhang, Y Gao, H Zhang, J Zhang, F He, A Hnízda, M Qian, X Liu, ... Blood, The Journal of the American Society of Hematology 131 (20), 2256-2261, 2018 | 75 | 2018 |
| Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency M Zikanova, V Skopova, A Hnizda, J Krijt, S Kmoch Human mutation 31 (4), 445-455, 2010 | 60 | 2010 |
| Towards proteomic analysis of milk proteins in historical building materials S Kuckova, M Crhova, L Vankova, A Hnizda, R Hynek, M Kodicek International Journal of Mass Spectrometry 284 (1-3), 42-46, 2009 | 59 | 2009 |
| Mechanism of efficient double-strand break repair by a long non-coding RNA R Thapar, JL Wang, M Hammel, R Ye, K Liang, C Sun, A Hnizda, S Liang, ... Nucleic acids research 48 (19), 10953-10972, 2020 | 57 | 2020 |
| Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency J Krijt, J Kopecká, A Hnízda, S Moat, LAJ Kluijtmans, P Mayne, V Kožich Journal of inherited metabolic disease 34, 49-55, 2011 | 55 | 2011 |
| Novel structural arrangement of nematode cystathionine β-synthases: characterization of Caenorhabditis elegans CBS-1 R Vozdek, A Hnízda, J Krijt, M Kostrouchová, V Kožich Biochemical Journal 443 (2), 535-547, 2012 | 44 | 2012 |
| Structural basis for inhibition of mycobacterial and human adenosine kinase by 7-substituted 7-(Het) aryl-7-deazaadenine ribonucleosides J Snášel, P Nauš, J Dostal, A Hnizda, J Fanfrlik, J Brynda, ... Journal of Medicinal Chemistry 57 (20), 8268-8279, 2014 | 43 | 2014 |
| An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes M Živná, K Kidd, M Zaidan, P Vyleťal, V Barešová, K Hodaňová, J Sovová, ... Kidney international 98 (6), 1589-1604, 2020 | 40 | 2020 |
| Reactivity of histidine and lysine side-chains with diethylpyrocarbonate—A method to identify surface exposed residues in proteins A Hnízda, J Šantrůček, M Šanda, M Strohalm, M Kodíček Journal of biochemical and biophysical methods 70 (6), 1091-1097, 2008 | 38 | 2008 |
| Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate P Melenovská, J Kopecká, J Krijt, A Hnízda, K Raková, M Janošík, ... Journal of Inherited Metabolic Disease 38, 287-294, 2015 | 34 | 2015 |
| Conformational properties of nine purified cystathionine β-synthase mutants A Hnízda, T Majtan, L Liu, AL Pey, JF Carpenter, M Kodíček, V Kožich, ... Biochemistry 51 (23), 4755-4763, 2012 | 34 | 2012 |
| PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome A Pelet, V Skopova, U Steuerwald, V Baresova, M Zarhrate, JM Plaza, ... Human Molecular Genetics 28 (22), 3805-3814, 2019 | 30 | 2019 |
| Relapsed acute lymphoblastic leukemia-specific mutations in NT5C2 cluster into hotspots driving intersubunit stimulation A Hnízda, M Fábry, T Moriyama, P Pachl, M Kugler, V Brinsa, DB Ascher, ... Leukemia 32 (6), 1393-1403, 2018 | 30 | 2018 |
| Mechanisms of NT5C2-Mediated Thiopurine Resistance in Acute Lymphoblastic Leukemia T Moriyama, S Liu, J Li, J Meyer, X Zhao, W Yang, Y Shao, R Heath, ... Molecular cancer therapeutics 18 (10), 1887-1895, 2019 | 28 | 2019 |
| SAP domain forms a flexible part of DNA aperture in Ku70/80 A Hnízda, P Tesina, TB Nguyen, Z Kukačka, L Kater, AK Chaplin, ... The FEBS Journal 288 (14), 4382-4393, 2021 | 22 | 2021 |
| Biochemical properties of nematode O-acetylserine (thiol) lyase paralogs imply their distinct roles in hydrogen sulfide homeostasis R Vozdek, A Hnízda, J Krijt, L Šerá, V Kožich Biochimica et Biophysica Acta (BBA)-Proteins and Proteomics 1834 (12), 2691-2701, 2013 | 21 | 2013 |
| Cross-talk between the catalytic core and the regulatory domain in cystathionine β-synthase: study by differential covalent labeling and computational modeling A Hnizda, V Spiwok, V Jurga, V Kozich, M Kodíček, JP Kraus Biochemistry 49 (49), 10526-10534, 2010 | 20 | 2010 |
