Zikanova M - Search Results

1

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: zikanova m. PLoS One. 2018 Jul 30;13(7):e0201432. doi: 10.1371/journal.pone.0201432. eCollection 2018. PLoS One. 2018. PMID: 30059557 Free PMC article.

2

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

3

Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes.

Stibůrková B, Majewski J, Hodanová K, Ondrová L, Jerábková M, Zikánová M, Vylet'al P, Sebesta I, Marinaki A, Simmonds A, Matthijs G, Fryns JP, Torres R, Puig JG, Ott J, Kmoch S. Stibůrková B, et al. Among authors: zikanova m. Eur J Hum Genet. 2003 Feb;11(2):145-54. doi: 10.1038/sj.ejhg.5200937. Eur J Hum Genet. 2003. PMID: 12634862

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

Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency.

Jurecka A, Zikanova M, Tylki-Szymanska A, Krijt J, Bogdanska A, Gradowska W, Mullerova K, Sykut-Cegielska J, Kmoch S, Pronicka E. Jurecka A, et al. Among authors: zikanova m. Mol Genet Metab. 2008 Aug;94(4):435-442. doi: 10.1016/j.ymgme.2008.04.013. Epub 2008 Jun 3. Mol Genet Metab. 2008. PMID: 18524658

6

D-ribose therapy in four Polish patients with adenylosuccinate lyase deficiency: absence of positive effect.

Jurecka A, Tylki-Szymanska A, Zikanova M, Krijt J, Kmoch S. Jurecka A, et al. Among authors: zikanova m. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S329-32. doi: 10.1007/s10545-008-0904-z. Epub 2008 Jul 12. J Inherit Metab Dis. 2008. PMID: 18649008

7

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

8

Oligodendroglia from ADSL-deficient patient produce SAICAribotide and SAMP.

Zídková L, Krijt J, Sládková J, Hlobilková A, Magner M, Zikánová M, Kmoch S, Friedecký D, Zeman J, Elleder M, Adam T. Zídková L, et al. Among authors: zikanova m. Mol Genet Metab. 2010 Oct-Nov;101(2-3):286-8. doi: 10.1016/j.ymgme.2010.06.014. Epub 2010 Jun 25. Mol Genet Metab. 2010. PMID: 20674424

9

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: zikanova m. 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.

10

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: zikanova m. 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

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