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Marie Zikanova

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Neuropediatrics|March 19, 2013
Attenuated adenylosuccinate lyase deficiency: a report of one case and a review of the literatureAgnieszka Jurecka, Marie Zikanova, Elżbieta Jurkiewicz, et al.
Journal of Inherited Metabolic Disease|August 13, 2014
Adenylosuccinate lyase deficiencyAgnieszka Jurecka, Marie Zikanova, Stanislav Kmoch, et al.
Human Mutation|February 4, 2010
Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiencyMarie Zikanova, Vaclava Skopova, Ales Hnizda, et al.
Plos One|July 31, 2018
Study of purinosome assembly in cell-based model systems with de novo purine synthesis and salvage pathway deficienciesVeronika Baresova, Vaclava Skopova, Olga Souckova, et al.
Clinical Biochemistry|December 3, 2014
Screening for adenylosuccinate lyase deficiency using tandem mass spectrometry analysis of succinylpurines in neonatal dried blood spotsMarie Zikanova, Jakub Krijt, Vaclava Skopova, et al.
Molecular Genetics and Metabolism|September 4, 2016
CRISPR-Cas9 induced mutations along de novo purine synthesis in HeLa cells result in accumulation of individual enzyme substrates and affect purinosome formationVeronika Baresova, Matyas Krijt, Vaclava Skopova, et al.
Clinical Biochemistry|November 5, 2013
The need for vigilance: false-negative screening for adenylosuccinate lyase deficiency caused by deribosylation of urinary biomarkersJakub Krijt, Vaclava Skopova, Vaclava Adamkova, et al.
Human Molecular Genetics|December 20, 2011
Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiencyVeronika Baresova, Vaclava Skopova, Jakub Sikora, et al.
Metabolites|December 23, 2022
Metabolites of De Novo Purine Synthesis: Metabolic Regulators and Cytotoxic CompoundsOlga Souckova, Vaclava Skopova, Veronika Baresova, et al.
Cell Systems|April 22, 2026
Mechanistic modeling of recessive disease through allelic integration of variant effectsHasan Çubuk, Marcin Plech, Vahid Aslanzadeh, et al.
Pageof 2

Showing results (1-10 of 16) with videos related to

Sort By:
Pageof 2
Neuropediatrics|March 19, 2013
Attenuated adenylosuccinate lyase deficiency: a report of one case and a review of the literatureAgnieszka Jurecka, Marie Zikanova, Elżbieta Jurkiewicz, et al.
Journal of Inherited Metabolic Disease|August 13, 2014
Adenylosuccinate lyase deficiencyAgnieszka Jurecka, Marie Zikanova, Stanislav Kmoch, et al.
Human Mutation|February 4, 2010
Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiencyMarie Zikanova, Vaclava Skopova, Ales Hnizda, et al.
Plos One|July 31, 2018
Study of purinosome assembly in cell-based model systems with de novo purine synthesis and salvage pathway deficienciesVeronika Baresova, Vaclava Skopova, Olga Souckova, et al.
Clinical Biochemistry|December 3, 2014
Screening for adenylosuccinate lyase deficiency using tandem mass spectrometry analysis of succinylpurines in neonatal dried blood spotsMarie Zikanova, Jakub Krijt, Vaclava Skopova, et al.
Molecular Genetics and Metabolism|September 4, 2016
CRISPR-Cas9 induced mutations along de novo purine synthesis in HeLa cells result in accumulation of individual enzyme substrates and affect purinosome formationVeronika Baresova, Matyas Krijt, Vaclava Skopova, et al.
Clinical Biochemistry|November 5, 2013
The need for vigilance: false-negative screening for adenylosuccinate lyase deficiency caused by deribosylation of urinary biomarkersJakub Krijt, Vaclava Skopova, Vaclava Adamkova, et al.
Human Molecular Genetics|December 20, 2011
Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiencyVeronika Baresova, Vaclava Skopova, Jakub Sikora, et al.
Metabolites|December 23, 2022
Metabolites of De Novo Purine Synthesis: Metabolic Regulators and Cytotoxic CompoundsOlga Souckova, Vaclava Skopova, Veronika Baresova, et al.
Cell Systems|April 22, 2026
Mechanistic modeling of recessive disease through allelic integration of variant effectsHasan Çubuk, Marcin Plech, Vahid Aslanzadeh, et al.
Pageof 2