Publications
- Pathway-specific effects of ADSL deficiency on neurodevelopment2022 | First Faculty of Medicine
- Metabolites of De Novo Purine Synthesis: Metabolic Regulators and Cytotoxic Compounds2022 | First Faculty of Medicine
- Transcriptome and metabolome analysis of crGART, a novel cell model of de novo purine synthesis deficiency: Alterations in CD36 expression and activity2021 | First Faculty of Medicine
- Metabolic Tools for Identification of New Mutations of Enzymes Engaged in Purine Synthesis Leading to Neurological Impairment2019 | First Faculty of Medicine
- The CRISPR-Cas9 crADSL HeLa transcriptome: A first step in establishing a model for ADSL deficiency and SAICAR accumulation2019 | First Faculty of Medicine
- PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome2019 | First Faculty of Medicine
- Study of purinosome assembly in cell-based model systems with de novo purine synthesis and salvage pathway deficiencies2018 | First Faculty of Medicine
- CRISPR-Cas9 induced mutations along de novo purine synthesis in HeLa cells result in accumulation of individual enzyme substrates and affect purinosome formation2016 | First Faculty of Medicine
- Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency2012 | First Faculty of Medicine
- Biochemical and Structural Analysis of 14 Mutant ADSL Enzyme Complexes and Correlation to Phenotypic Heterogeneity of Adenylosuccinate Lyase Deficiency2010 | First Faculty of Medicine
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