Folgen
Ales Hnizda
Ales Hnizda
Bestätigte E-Mail-Adresse bei lf1.cuni.cz
Titel
Zitiert von
Zitiert von
Jahr
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
1632016
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
782018
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
742021
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
672018
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
602010
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
602009
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
572020
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
422014
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
422012
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
392020
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
382011
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
382008
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
322012
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
312015
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
292018
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
272019
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
252019
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
192013
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
192010
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
182021
Das System kann den Vorgang jetzt nicht ausführen. Versuchen Sie es später erneut.
Artikel 1–20