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Purine synthesis
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Metabolites of De Novo Purine Synthesis: Metabolic Regulators and Cytotoxic Compounds
2022 |
First Faculty of Medicine
publication
Metabolic Tools for Identification of New Mutations of Enzymes Engaged in Purine Synthesis Leading to Neurological Impairment
2019 |
First Faculty of Medicine
publication
CRISPR-Cas9 induced mutations along de novo purine synthesis in HeLa cells result in accumulation of individual enzyme substrates and affect purinosome formation
2016 |
First Faculty of Medicine
publication
PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome
2019 |
First Faculty of Medicine
publication
Transcriptome and metabolome analysis of crGART, a novel cell model of de novo purine synthesis deficiency: Alterations in CD36 expression and activity
2021 |
First Faculty of Medicine
publication
Study of purinosome assembly in cell-based model systems with de novo purine synthesis and salvage pathway deficiencies
2018 |
First Faculty of Medicine
publication
The CRISPR-Cas9 crADSL HeLa transcriptome: A first step in establishing a model for ADSL deficiency and SAICAR accumulation
2019 |
First Faculty of Medicine
publication
The CRISPR-Cas9 crATIC HeLa transcriptome: Characterization of a novel cellular model of ATIC deficiency and ZMP accumulation
2020 |
First Faculty of Medicine
publication
New biosensor for detection of copper ions in water based on immobilized genetically modified yeast cells
2015 |
Faculty of Science, Central Library of Charles University
publication
Oligodendroglia from ADSL-deficient patient produce SAICAribotide and SAMP
2010 |
First Faculty of Medicine
publication
Biochemical and Structural Analysis of 14 Mutant ADSL Enzyme Complexes and Correlation to Phenotypic Heterogeneity of Adenylosuccinate Lyase Deficiency
2010 |
First Faculty of Medicine
publication
Human adenylosuccinate lyase (ADSL), cloning and characterization of full-lenght cDNA and its isoform, gene structure and bomelular basis for ADSL deficiency in six patients
2000 |
First Faculty of Medicine
publication
Adenylosuccinate lyase deficiency in a Czech girl and two siblings
1994 |
Second Faculty of Medicine
publication
Are haplotypes in a single methotrexate pathway more predictive for response in rheumatoid arthritis than in different pathways?
2018 |
Faculty of Mathematics and Physics, Faculty of Pharmacy in Hradec Králové, Faculty of Medicine in Hradec Králové
publication
Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency
2012 |
First Faculty of Medicine
publication
Pathway-specific effects of ADSL deficiency on neurodevelopment
2022 |
First Faculty of Medicine
publication
Absence of MMACHC in peripheral retinal cells does not lead to an ocular phenotype in mice
2021 |
First Faculty of Medicine