(Q41956655)

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

scientific article published on 12 January 2013

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scholarly article

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23 February 2020

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

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23 February 2020

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Veronika Barešová

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23 February 2020

Vaclava Skopova

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23 February 2020

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23 February 2020

Marie Zikánová

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23 February 2020

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Nathan Duval

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23 February 2020

Kyleen Luhrs

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23 February 2020

Terry G Wilkinson

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23 February 2020

Stanislav Kmoch

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23 February 2020

David Patterson

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23 February 2020

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12 January 2013

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23 February 2020

Molecular Genetics and Metabolism

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23 February 2020

108

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23 February 2020

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23 February 2020

178-189

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23 February 2020

describes a project that uses

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Mapping protein-protein proximity in the purinosome.

1 reference

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5 June 2018

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

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Unraveling the Chinese hamster ovary cell line transcriptome by next-generation sequencing

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5 June 2018

PoPMuSiC 2.1: a web server for the estimation of protein stability changes upon mutation and sequence optimality

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Identification of aneuploidy-selective antiproliferation compounds

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5 June 2018

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

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5 June 2018

Study of inborn errors of metabolism in urine from patients with unexplained mental retardation.

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5 June 2018

Zebrafish mutations in gart and paics identify crucial roles for de novo purine synthesis in vertebrate pigmentation and ocular development.

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5 June 2018

Identification of inhibitors of N5-carboxyaminoimidazole ribonucleotide synthetase by high-throughput screening

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5 June 2018

Inborn errors of purine and pyrimidine metabolism.

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5 June 2018

Mutations in the Chinese hamster ovary cell GART gene of de novo purine synthesis

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5 June 2018

AMPK and PPARdelta agonists are exercise mimetics

1 reference

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5 June 2018

Reversible compartmentalization of de novo purine biosynthetic complexes in living cells

1 reference

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5 June 2018

Octameric structure of the human bifunctional enzyme PAICS in purine biosynthesis

1 reference

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5 June 2018

5-Aminoimidazole-4-carboxamide-1-beta-D-ribofuranoside inhibits cancer cell proliferation in vitro and in vivo via AMP-activated protein kinase

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5 June 2018

Identification of differentially expressed genes in human lung squamous cell carcinoma using suppression subtractive hybridization

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5 June 2018

Human phosphoribosylformylglycineamide amidotransferase (FGARAT): regional mapping, complete coding sequence, isolation of a functional genomic clone, and DNA sequence analysis

1 reference

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5 June 2018

Persistence and protective efficacy of a Mycobacterium tuberculosis auxotroph vaccine

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5 June 2018

The human GARS-AIRS-GART gene encodes two proteins which are differentially expressed during human brain development and temporally overexpressed in cerebellum of individuals with Down syndrome

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5 June 2018

Purification of, generation of monoclonal antibodies to, and mapping of phosphoribosyl N-formylglycinamide amidotransferase

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5 June 2018

A mutant of CHO-K1 cells deficient in two nonsequential steps of de novo purine biosynthesis

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5 June 2018

Disruption of the purine nucleotide cycle by inhibition of adenylosuccinate lyase produces skeletal muscle dysfunction

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5 June 2018

n-Electrode three-dimensional liquid chromatography with electrochemical detection for determination of neurotransmitters.

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5 June 2018

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

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5 June 2018

Biochemical genetics of Chinese hamster cell mutants with deviant purine metabolism: Biochemical analysis of eight mutants

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5 June 2018

Biochemical genetics of Chinese hamster cell mutants with deviant purine metabolism. VI. Enzymatic studies of two mutants unable to convert inosinic acid to adenylic acid

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5 June 2018

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

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18 August 2018

Fast and accurate predictions of protein stability changes upon mutations using statistical potentials and neural networks: PoPMuSiC-2.0.

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18 August 2018

Metabolic intermediates selectively stimulate transcription factor interaction and modulate phosphate and purine pathways

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18 August 2018

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18 August 2018

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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

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.01.002

7 January 2021

Structural and Biochemical Characterization of Human Adenylosuccinate Lyase (ADSL) and the R303C ADSL Deficiency-Associated Mutation

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.01.002

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.01.002

7 January 2021

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

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.01.002

7 January 2021

Adenylosuccinate lyase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.01.002

7 January 2021

Residual adenylosuccinase activities in fibroblasts of adenylosuccinase-deficient children: parallel deficiency with adenylosuccinate and succinyl-AICAR in profoundly retarded patients and non-parallel deficiency in a mildly retarded girl

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.01.002

7 January 2021

Identifiers

10.1016/J.YMGME.2013.01.002

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23 February 2020

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23 February 2020

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23 February 2020

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