(Q51535529)

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

scientific article published on 24 August 2016

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22 March 2020

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

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22 March 2020

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Veronika Barešová

1

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22 March 2020

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22 March 2020

Vaclava Skopova

3

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22 March 2020

Marie Zikánová

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22 March 2020

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Olga Souckova

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22 March 2020

Stanislav Kmoch

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22 March 2020

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24 August 2016

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22 March 2020

Molecular Genetics and Metabolism

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22 March 2020

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22 March 2020

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22 March 2020

270-277

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22 March 2020

AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Reversible compartmentalization of de novo purine biosynthetic complexes in living cells

1 reference

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7 January 2021

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

1 reference

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7 January 2021

A simple method for the synthesis of N5,N10-methenyltetrahydrofolic acid

1 reference

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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

1 reference

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7 January 2021

Purification and characterization of the purE, purK, and purC gene products: identification of a previously unrecognized energy requirement in the purine biosynthetic pathway

1 reference

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7 January 2021

Adenylosuccinate lyase deficiency.

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Investigation of the mechanism of phosphoribosylamine transfer from glutamine phosphoribosylpyrophosphate amidotransferase to glycinamide ribonucleotide synthetase

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.08.004

7 January 2021

Revisiting purine-histidine cross-pathway regulation in Saccharomyces cerevisiae: a central role for a small molecule

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.08.004

7 January 2021

Adenylosuccinase deficiency.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.08.004

7 January 2021

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10.1016/J.YMGME.2016.08.004

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22 March 2020

PubMed publication ID

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22 March 2020

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