Publikace
- Combined Targeted and Untargeted Profiling of HeLa Cells Deficient in Purine De Novo Synthesis2022 | 1. lékařská fakulta
- The CRISPR-Cas9 crATIC HeLa transcriptome: Characterization of a novel cellular model of ATIC deficiency and ZMP accumulation2020 | 1. lékařská fakulta
- PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome2019 | 1. lékařská fakulta
- Mass spectrometric analysis of purine de novo biosynthesis intermediates2018 | 1. lékařská fakulta
- CRISPR-Cas9 induced mutations along de novo purine synthesis in HeLa cells result in accumulation of individual enzyme substrates and affect purinosome formation2016 | 1. lékařská fakulta
- Mutace v genech pro ATIC a ADSL ovlivňují formování purinosomu v kultivovaných kožních fibroblastech pacientů s AICA-ribosidurií a deficitem ADSL.2012 | 1. lékařská fakulta
- Improved diagnostics of purine and pyrimidine metabolism disorders using LC-MS/MS and its clinical application2023 | 1. lékařská fakulta
- Pathway-specific effects of ADSL deficiency on neurodevelopment2022 | 1. lékařská fakulta
- Metabolites of De Novo Purine Synthesis: Metabolic Regulators and Cytotoxic Compounds2022 | 1. lékařská fakulta
- Transcriptome and metabolome analysis of crGART, a novel cell model of de novo purine synthesis deficiency: Alterations in CD36 expression and activity2021 | 1. lékařská fakulta
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