Skopova V - Search Results

1

Metabolites of De Novo Purine Synthesis: Metabolic Regulators and Cytotoxic Compounds.

Souckova O, Skopova V, Baresova V, Sedlak D, Bleyer AJ, Kmoch S, Zikanova M. Souckova O, et al. Among authors: skopova v. Metabolites. 2022 Dec 2;12(12):1210. doi: 10.3390/metabo12121210. Metabolites. 2022. PMID: 36557247 Free PMC article.

2

Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency.

Zikanova M, Skopova V, Hnizda A, Krijt J, Kmoch S. Zikanova M, et al. Among authors: skopova v. Hum Mutat. 2010 Apr;31(4):445-55. doi: 10.1002/humu.21212. Hum Mutat. 2010. PMID: 20127976

3

Molecular characterization of the AdeI mutant of Chinese hamster ovary cells: a cellular model of adenylosuccinate lyase deficiency.

Vliet LK, Wilkinson TG 2nd, Duval N, Vacano G, Graham C, Zikánová M, Skopova V, Baresova V, Hnízda A, Kmoch S, Patterson D. Vliet LK, et al. Among authors: skopova v. Mol Genet Metab. 2011 Jan;102(1):61-8. doi: 10.1016/j.ymgme.2010.08.022. Epub 2010 Sep 6. Mol Genet Metab. 2011. PMID: 20884265 Free PMC article.

4

Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency.

Baresova V, Skopova V, Sikora J, Patterson D, Sovova J, Zikanova M, Kmoch S. Baresova V, et al. Among authors: skopova v. Hum Mol Genet. 2012 Apr 1;21(7):1534-43. doi: 10.1093/hmg/ddr591. Epub 2011 Dec 16. Hum Mol Genet. 2012. PMID: 22180458

5

Genetic and metabolomic analysis of AdeD and AdeI mutants of de novo purine biosynthesis: cellular models of de novo purine biosynthesis deficiency disorders.

Duval N, Luhrs K, Wilkinson TG 2nd, Baresova V, Skopova V, Kmoch S, Vacano GN, Zikanova M, Patterson D. Duval N, et al. Among authors: skopova v. Mol Genet Metab. 2013 Mar;108(3):178-189. doi: 10.1016/j.ymgme.2013.01.002. Epub 2013 Jan 12. Mol Genet Metab. 2013. PMID: 23394948 Free PMC article.

6

The need for vigilance: false-negative screening for adenylosuccinate lyase deficiency caused by deribosylation of urinary biomarkers.

Krijt J, Skopova V, Adamkova V, Cermakova R, Jurecka A, Kmoch S, Zikanova M. Krijt J, et al. Among authors: skopova v. Clin Biochem. 2013 Dec;46(18):1899-901. doi: 10.1016/j.clinbiochem.2013.10.018. Epub 2013 Oct 30. Clin Biochem. 2013. PMID: 24183879

7

Screening for adenylosuccinate lyase deficiency using tandem mass spectrometry analysis of succinylpurines in neonatal dried blood spots.

Zikanova M, Krijt J, Skopova V, Krijt M, Baresova V, Kmoch S. Zikanova M, et al. Among authors: skopova v. Clin Biochem. 2015 Jan;48(1-2):2-7. doi: 10.1016/j.clinbiochem.2014.10.004. Epub 2014 Oct 23. Clin Biochem. 2015. PMID: 25445730

8

CRISPR-Cas9 induced mutations along de novo purine synthesis in HeLa cells result in accumulation of individual enzyme substrates and affect purinosome formation.

Baresova V, Krijt M, Skopova V, Souckova O, Kmoch S, Zikanova M. Baresova V, et al. Among authors: skopova v. Mol Genet Metab. 2016 Nov;119(3):270-277. doi: 10.1016/j.ymgme.2016.08.004. Epub 2016 Aug 24. Mol Genet Metab. 2016. PMID: 27590927

9

Study of purinosome assembly in cell-based model systems with de novo purine synthesis and salvage pathway deficiencies.

Baresova V, Skopova V, Souckova O, Krijt M, Kmoch S, Zikanova M. Baresova V, et al. Among authors: skopova v. PLoS One. 2018 Jul 30;13(7):e0201432. doi: 10.1371/journal.pone.0201432. eCollection 2018. PLoS One. 2018. PMID: 30059557 Free PMC article.

10

Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females.

Zikánová M, Wahezi D, Hay A, Stiburková B, Pitts C 3rd, Mušálková D, Škopová V, Barešová V, Soucková O, Hodanová K, Živná M, Stránecký V, Hartmannová H, Hnízda A, Bleyer AJ, Kmoch S. Zikánová M, et al. Among authors: skopova v. Rheumatology (Oxford). 2018 Jul 1;57(7):1180-1185. doi: 10.1093/rheumatology/key041. Rheumatology (Oxford). 2018. PMID: 30423175 Free PMC article.

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