Zikánová M - Search Results

1

Prolyl hydroxylase substrate adenylosuccinate lyase is an oncogenic driver in triple negative breast cancer.

Zurlo G, Liu X, Takada M, Fan C, Simon JM, Ptacek TS, Rodriguez J, von Kriegsheim A, Liu J, Locasale JW, Robinson A, Zhang J, Holler JM, Kim B, Zikánová M, Bierau J, Xie L, Chen X, Li M, Perou CM, Zhang Q. Zurlo G, et al. Among authors: zikanova m. Nat Commun. 2019 Nov 15;10(1):5177. doi: 10.1038/s41467-019-13168-4. Nat Commun. 2019. PMID: 31729379 Free PMC article.

2

Attenuated adenylosuccinate lyase deficiency: a report of one case and a review of the literature.

Jurecka A, Zikanova M, Jurkiewicz E, Tylki-Szymańska A. Jurecka A, et al. Among authors: zikanova m. Neuropediatrics. 2014 Feb;45(1):50-5. doi: 10.1055/s-0033-1337335. Epub 2013 Mar 16. Neuropediatrics. 2014. PMID: 23504561 Review.

3

Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients.

Kmoch S, Hartmannová H, Stibůrková B, Krijt J, Zikánová M, Sebesta I. Kmoch S, et al. Among authors: zikanova m. Hum Mol Genet. 2000 Jun 12;9(10):1501-13. doi: 10.1093/hmg/9.10.1501. Hum Mol Genet. 2000. PMID: 10888601

4

Preparation of 5-amino-4-imidazole-N-succinocarboxamide ribotide, 5-amino-4-imidazole-N-succinocarboxamide riboside and succinyladenosine, compounds usable in diagnosis and research of adenylosuccinate lyase deficiency.

Zikánová M, Krijt J, Hartmannová H, Kmoch S. Zikánová M, et al. J Inherit Metab Dis. 2005;28(4):493-9. doi: 10.1007/s10545-005-0493-z. J Inherit Metab Dis. 2005. PMID: 15902552

5

Lethal fetal and early neonatal presentation of adenylosuccinate lyase deficiency: observation of 6 patients in 4 families.

Mouchegh K, Zikánová M, Hoffmann GF, Kretzschmar B, Kühn T, Mildenberger E, Stoltenburg-Didinger G, Krijt J, Dvoráková L, Honzík T, Zeman J, Kmoch S, Rossi R. Mouchegh K, et al. Among authors: zikanova m. J Pediatr. 2007 Jan;150(1):57-61.e2. doi: 10.1016/j.jpeds.2006.09.027. J Pediatr. 2007. PMID: 17188615

6

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. Hum Mutat. 2010 Apr;31(4):445-55. doi: 10.1002/humu.21212. Hum Mutat. 2010. PMID: 20127976

7

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: zikanova m. 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

8

Adenylosuccinate lyase deficiency.

Jurecka A, Zikanova M, Kmoch S, Tylki-Szymańska A. Jurecka A, et al. Among authors: zikanova m. J Inherit Metab Dis. 2015 Mar;38(2):231-42. doi: 10.1007/s10545-014-9755-y. Epub 2014 Aug 12. J Inherit Metab Dis. 2015. PMID: 25112391 Free PMC article. Review.

9

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. 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

10

The CRISPR-Cas9 crADSL HeLa transcriptome: A first step in establishing a model for ADSL deficiency and SAICAR accumulation.

Mazzarino RC, Baresova V, Zikánová M, Duval N, Wilkinson TG 2nd, Patterson D, Vacano GN. Mazzarino RC, et al. Among authors: zikanova m. Mol Genet Metab Rep. 2019 Sep 4;21:100512. doi: 10.1016/j.ymgmr.2019.100512. eCollection 2019 Dec. Mol Genet Metab Rep. 2019. PMID: 31516833 Free PMC article.

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