Publikace
- Pathway-specific effects of ADSL deficiency on neurodevelopment2022 | 1. lékařská fakulta
- Combined Targeted and Untargeted Profiling of HeLa Cells Deficient in Purine De Novo Synthesis2022 | 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
- The CRISPR-Cas9 crATIC HeLa transcriptome: Characterization of a novel cellular model of ATIC deficiency and ZMP accumulation2020 | 1. lékařská fakulta
- Metabolic Tools for Identification of New Mutations of Enzymes Engaged in Purine Synthesis Leading to Neurological Impairment2019 | 1. lékařská fakulta
- The CRISPR-Cas9 crADSL HeLa transcriptome: A first step in establishing a model for ADSL deficiency and SAICAR accumulation2019 | 1. lékařská fakulta
- PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome2019 | 1. lékařská fakulta
- Study of purinosome assembly in cell-based model systems with de novo purine synthesis and salvage pathway deficiencies2018 | 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
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