Pathway-specific effects of ADSL deficiency on neurodevelopment von Dutto, Ilaria, Gerhards, Julian, Herrera, Antonio, Souckova, Olga, Škopová, Václava, Smak, Jordann A, Junza, Alexandra, Yanes, Oscar, Boeckx, Cedric, Burkhalter, Martin D, Zikánová, Marie, Pons, Sebastian, Philipp, Melanie, Lüders, Jens, Stracker, Travis H

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Improved diagnostics of purine and pyrimidine metabolism disorders using LC-MS/MS and its clinical application von Cremonesi, Alessio, Meili, David, Rassi, Anahita, Poms, Martin, Tavazzi, Barbara, Škopová, Václava, Häberle, Johannes, Zikánová, Marie, Hersberger, Martin

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Mass spectrometric analysis of purine de novo biosynthesis intermediates von Mádrová, Lucie, Krijt, Matyáš, Barešová, Veronika, Václavík, Jan, Friedecký, David, Dobešová, Dana, Součková, Olga, Škopová, Václava, Adam, Tomáš, Zikánová, Marie

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Improved diagnostics of purine and pyrimidine metabolism disorders using LC-MS/MS and its clinical application von Cremonesi, Alessio, Meili, David, Rassi, Anahita, Poms, Martin, Tavazzi, Barbara, Škopová, Václava, Häberle, Johannes, Zikánová, Marie, Hersberger, Martin

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Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females von Zikánová, Marie, Wahezi, Dawn, Hay, Arielle, Stibůrková, Blanka, Pitts, Charles, Mušálková, Dita, Škopová, Václava, Barešová, Veronika, Součková, Olga, Hodaňová, Kateřina, Živná, Martina, Stránecký, Viktor, Hartmannová, Hana, Hnízda, Ales, Bleyer, Anthony J, Kmoch, Stanislav

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Study of purinosome assembly in cell-based model systems with de novo purine synthesis and salvage pathway deficiencies von Baresova, Veronika, Skopova, Vaclava, Souckova, Olga, Krijt, Matyas, Kmoch, Stanislav, Zikanova, Marie

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PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome von Pelet, Anna, Skopova, Vaclava, Steuerwald, Ulrike, Baresova, Veronika, Zarhrate, Mohammed, Plaza, Jean-Marc, Hnizda, Ales, Krijt, Matyas, Souckova, Olga, Wibrand, Flemming, Andorsdóttir, Guðrið, Joensen, Fróði, Sedlak, David, Bleyer, Anthony J, Kmoch, Stanislav, Lyonnet, Stanislas, Zikanova, Marie

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Metabolites of De Novo Purine Synthesis: Metabolic Regulators and Cytotoxic Compounds von Souckova, Olga, Skopova, Vaclava, Baresova, Veronika, Sedlak, David, Bleyer, Anthony J, Kmoch, Stanislav, Zikanova, Marie

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Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency von Zikanova, Marie, Skopova, Vaclava, Hnizda, Ales, Krijt, Jakub, Kmoch, Stanislav

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Genetic and metabolomic analysis of AdeD and AdeI mutants of de novo purine biosynthesis: Cellular models of de novo purine biosynthesis deficiency disorders von Duval, Nathan, Luhrs, Kyleen, Wilkinson, Terry G., Baresova, Veronika, Skopova, Vaclava, Kmoch, Stanislav, Vacano, Guido N., Zikanova, Marie, Patterson, David

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Modified HeLa Cells and C.elegans Multicellular Model as Unique Systems for the Study of Purinosome Formation von Skopova, Vaclava, Baresova, Veronika, Souckova, Olga, Krijt, Matyas, Zikanova, Marie

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CRISPR-Cas9 induced mutations along de novo purine synthesis in HeLa cells result in accumulation of individual enzyme substrates and affect purinosome formation von Baresova, Veronika, Krijt, Matyas, Skopova, Vaclava, Souckova, Olga, Kmoch, Stanislav, Zikanova, Marie

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Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency von Baresova, Veronika, Skopova, Vaclava, Sikora, Jakub, Patterson, David, Sovova, Jana, Zikanova, Marie, Kmoch, Stanislav

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A study of putative genetically determined defects of de novo purine synthesis using CRISPR‐Cas9 genome‐edited HeLa cells von Skopova, Vaclava, Baresova, Veronika, Souckova, Olga, Krijt, Matyas, Kmoch, Stanislav, Zikanova, Marie

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Expanding clinical spectrum of PAICS deficiency: Comprehensive analysis of two sibling cases von Weng, Wen-Chin, Skopova, Vaclava, Baresova, Veronika, Liu, Yao-Lin, Hsueh, Hsueh-Wen, Chien, Yin-Hsiu, Hwu, Wuh-Liang, Souckova, Olga, Hnizda, Ales, Kmoch, Stanislav, Lee, Ni-Chung, Zikanova, Marie

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Screening for adenylosuccinate lyase deficiency using tandem mass spectrometry analysis of succinylpurines in neonatal dried blood spots von Zikanova, Marie, Krijt, Jakub, Skopova, Vaclava, Krijt, Matyas, Baresova, Veronika, Kmoch, Stanislav

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The need for vigilance: False-negative screening for adenylosuccinate lyase deficiency caused by deribosylation of urinary biomarkers von Krijt, Jakub, Skopova, Vaclava, Adamkova, Vaclava, Cermakova, Renata, Jurecka, Agnieszka, Kmoch, Stanislav, Zikanova, Marie

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Biochemical‐structural‐phenotypic correlation of adenylosuccinate lyase deficiency based on analysis of mutant enzyme complexes von Zikanova, Marie, Skopova, Vaclava, Hnizda, Ales, Krijt, Jakub, Kmoch, Stanislav

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Characterization of genotype ‐ phenotype correlations in Adenylosuccinate Lyase (ADSL) Deficiency von Zikanova, Marie, Skopova, Vaclava, Hulkova, Helena, Kmoch, Stanislav

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Molecular characterization of the AdeI mutant of Chinese hamster ovary cells: A cellular model of adenylosuccinate lyase deficiency von Vliet, Lydia K., Wilkinson, Terry G., Duval, Nathan, Vacano, Guido, Graham, Christine, Zikánová, Marie, Skopova, Vaclava, Baresova, Veronika, Hnízda, Aleš, Kmoch, Stanislav, Patterson, David

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