- Metabolites of De Novo Purine Synthesis: Metabolic Regulators and Cytotoxic Compounds2022 | 1. lékařská fakulta
- Metabolic Tools for Identification of New Mutations of Enzymes Engaged in Purine Synthesis Leading to Neurological Impairment2019 | 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
- PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome2019 | 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
- Study of purinosome assembly in cell-based model systems with de novo purine synthesis and salvage pathway deficiencies2018 | 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
- The CRISPR-Cas9 crATIC HeLa transcriptome: Characterization of a novel cellular model of ATIC deficiency and ZMP accumulation2020 | 1. lékařská fakulta
- New biosensor for detection of copper ions in water based on immobilized genetically modified yeast cells2015 | Přírodovědecká fakulta, Ústřední knihovna
- Oligodendroglie pacienta s deficitem ADSL produkují SAICAribotide a SAMP2010 | 1. lékařská fakulta
- Biochemická a strukturální analýza 14 mutovaných ADSL enzymových komplexů a její korelace s fenotypovou heterogenitou deficitu adenylosukcinátlyázy2010 | 1. lékařská fakulta
- Human adenylosuccinate lyase (ADSL), cloning and characterization of full-lenght cDNA and its isoform, gene structure and bomelular basis for ADSL deficiency in six patients2000 | 1. lékařská fakulta
- Adenylosuccinate lyase deficiency in a Czech girl and two siblings1994 | 2. lékařská fakulta
- Are haplotypes in a single methotrexate pathway more predictive for response in rheumatoid arthritis than in different pathways?2018 | Matematicko-fyzikální fakulta, Farmaceutická fakulta v Hradci Králové, Lékařská fakulta v Hradci Králové
- 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
- Pathway-specific effects of ADSL deficiency on neurodevelopment2022 | 1. lékařská fakulta
- Absence of MMACHC in peripheral retinal cells does not lead to an ocular phenotype in mice2021 | 1. lékařská fakulta