Publications by authors named "Marie Zikánová"

20Publications

Age Dependent Progression of Multiple Epiphyseal Dysplasia and Pseudoachondroplasia Due to Heterozygous Mutations in COMP Gene.

Prague Med Rep 2020 ;121(3):153-162

Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.

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http://dx.doi.org/10.14712/23362936.2020.14DOI Listing
January 2020

The CRISPR-Cas9 crATIC HeLa transcriptome: Characterization of a novel cellular model of ATIC deficiency and ZMP accumulation.

Mol Genet Metab Rep 2020 Dec 2;25:100642. Epub 2020 Sep 2.

Knoebel Institute for Healthy Aging, University of Denver, 2155 E. Wesley Avenue, Denver, CO 80210, USA.

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http://dx.doi.org/10.1016/j.ymgmr.2020.100642DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7479443PMC
December 2020

PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome.

Hum Mol Genet 2019 11;28(22):3805-3814

Research Unit for Rare Diseases, Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, 12808 Prague, Czech Republic.

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http://dx.doi.org/10.1093/hmg/ddz237DOI Listing
November 2019

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

Mol Genet Metab Rep 2019 Dec 4;21:100512. Epub 2019 Sep 4.

Knoebel Institute for Healthy Aging, University of Denver, 2155 E. Wesley Avenue, Denver, CO 80210, USA.

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http://dx.doi.org/10.1016/j.ymgmr.2019.100512DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6731210PMC
December 2019

Mass spectrometric analysis of purine de novo biosynthesis intermediates.

PLoS One 2018 10;13(12):e0208947. Epub 2018 Dec 10.

Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0208947PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6287904PMC
May 2019

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

PLoS One 2018 30;13(7):e0201432. Epub 2018 Jul 30.

Research Unit for Rare Diseases, Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0201432PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6066232PMC
January 2019

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

Mol Genet Metab 2016 11 24;119(3):270-277. Epub 2016 Aug 24.

Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, General University Hospital in Prague, Ke Karlovu 2, 128 08 Praha 2, Czech Republic. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.08.004DOI Listing
November 2016

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

Clin Biochem 2015 Jan 23;48(1-2):2-7. Epub 2014 Oct 23.

Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Ke Karlovu 2, 128 08 Praha 2, Czech Republic. Electronic address:

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http://dx.doi.org/10.1016/j.clinbiochem.2014.10.004DOI Listing
January 2015

Adenylosuccinate lyase deficiency.

J Inherit Metab Dis 2015 Mar 12;38(2):231-42. Epub 2014 Aug 12.

Department of Genetics, University of Gdańsk, ul. Wita Stwosza 59, 80-308, Gdańsk, Poland,

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http://dx.doi.org/10.1007/s10545-014-9755-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4341013PMC
March 2015

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

Clin Biochem 2013 Dec 30;46(18):1899-901. Epub 2013 Oct 30.

Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Ke Karlovu 2, 128 08 Praha 2, Czech Republic. Electronic address:

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http://dx.doi.org/10.1016/j.clinbiochem.2013.10.018DOI Listing
December 2013

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

Neuropediatrics 2014 Feb 16;45(1):50-5. Epub 2013 Mar 16.

Department of Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.

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http://dx.doi.org/10.1055/s-0033-1337335DOI Listing
February 2014

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

Mol Genet Metab 2013 Mar 12;108(3):178-189. Epub 2013 Jan 12.

Eleanor Roosevelt Institute and Department of Biological Sciences, University of Denver, 2101 E. Wesley Ave., Denver, CO 80208, USA.

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http://dx.doi.org/10.1016/j.ymgme.2013.01.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4296673PMC
March 2013

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

Hum Mol Genet 2012 Apr 16;21(7):1534-43. Epub 2011 Dec 16.

Institute of Inherited Metabolic Disorders, Charles University in Prague and General University Hospital in Prague, 128 08 Prague 2, Czech Republic.

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http://dx.doi.org/10.1093/hmg/ddr591DOI Listing
April 2012

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

Hum Mutat 2010 Apr;31(4):445-55

Institute of Inherited Metabolic Disorders, Charles University in Prague, First Faculty of Medicine, Ke Karlovu 2, Prague 2, Czech Republic.

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http://doi.wiley.com/10.1002/humu.21212
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http://dx.doi.org/10.1002/humu.21212DOI Listing
April 2010

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

Mol Genet Metab 2008 Aug 3;94(4):435-42. Epub 2008 Jun 3.

Department of Metabolic Diseases, Endocrinology and Diabetology, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.

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http://dx.doi.org/10.1016/j.ymgme.2008.04.013DOI Listing
August 2008