Publications
- Pathway-specific effects of ADSL deficiency on neurodevelopment2022 | First Faculty of Medicine
- Combined Targeted and Untargeted Profiling of HeLa Cells Deficient in Purine De Novo Synthesis2022 | 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
- Study of purinosome assembly in cell-based model systems with de novo purine synthesis and salvage pathway deficiencies2018 | First Faculty of Medicine
- Mass spectrometric analysis of purine de novo biosynthesis intermediates2018 | First Faculty of Medicine
- Adenylosuccinate lyase deficiency2015 | 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
- Molecular characterization of the AdeI mutant of Chinese hamster ovary cells: A cellular model of adenylosuccinate lyase deficiency2011 | 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
- Oligodendroglia from ADSL-deficient patient produce SAICAribotide and SAMP2010 | First Faculty of Medicine
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