(Q43175902)

English

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

scientific article published in April 2010

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

15 November 2017

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

1 reference

Europe PubMed Central

PubMed publication ID

15 November 2017

phenotypic heterogeneity

1 reference

based on heuristic

inferred from title

4

1 reference

Europe PubMed Central

PubMed publication ID

15 November 2017

author name string

Marie Zikanova

1

1 reference

Europe PubMed Central

PubMed publication ID

15 November 2017

Vaclava Skopova

2

1 reference

Europe PubMed Central

PubMed publication ID

15 November 2017

Ales Hnizda

3

1 reference

Europe PubMed Central

PubMed publication ID

15 November 2017

Stanislav Kmoch

5

1 reference

Europe PubMed Central

PubMed publication ID

15 November 2017

language of work or name

1 reference

based on heuristic

inferred from title

publication date

1 April 2010

1 reference

Europe PubMed Central

PubMed publication ID

15 November 2017

1 reference

Europe PubMed Central

PubMed publication ID

15 November 2017

31

1 reference

Europe PubMed Central

PubMed publication ID

15 November 2017

4

1 reference

Europe PubMed Central

PubMed publication ID

15 November 2017

445-455

1 reference

Europe PubMed Central

PubMed publication ID

15 November 2017

Reversible compartmentalization of de novo purine biosynthetic complexes in living cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21212

7 January 2021

based on heuristic

inferred from DOI database lookup

Biochemical and biophysical analysis of five disease-associated human adenylosuccinate lyase mutants

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21212

7 January 2021

based on heuristic

inferred from DOI database lookup

Three subunits contribute amino acids to the active site of tetrameric adenylosuccinate lyase: Lys268 and Glu275 are required

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21212

7 January 2021

based on heuristic

inferred from DOI database lookup

Importance of purine nucleotide cycle to energy production in skeletal muscle

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21212

7 January 2021

based on heuristic

inferred from DOI database lookup

Mapping of the human adenylosuccinate lyase (ADSL) gene to chromosome 22q13.1-->q13.2.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21212

7 January 2021

based on heuristic

inferred from DOI database lookup

Misleading behavioural phenotype with adenylosuccinate lyase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21212

7 January 2021

based on heuristic

inferred from DOI database lookup

Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21212

7 January 2021

based on heuristic

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Adenylosuccinase deficiency: a newly recognized variant

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21212

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21212

7 January 2021

based on heuristic

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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

https://api.crossref.org/works/10.1002%2FHUMU.21212

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification and determination of succinyladenosine in human cerebrospinal fluid

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21212

7 January 2021

based on heuristic

inferred from DOI database lookup

His68 and His141 are critical contributors to the intersubunit catalytic site of adenylosuccinate lyase of Bacillus subtilis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21212

7 January 2021

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inferred from DOI database lookup

Adenylosuccinase deficiency presenting with epilepsy in early infancy

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21212

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21212

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21212

7 January 2021

based on heuristic

inferred from DOI database lookup

Yeast AMP pathway genes respond to adenine through regulated synthesis of a metabolic intermediate.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21212

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21212

7 January 2021

based on heuristic

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Two novel mutant human adenylosuccinate lyases (ASLs) associated with autism and characterization of the equivalent mutant Bacillus subtilis ASL

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21212

7 January 2021

based on heuristic

inferred from DOI database lookup

Adenylosuccinate lyase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21212

7 January 2021

based on heuristic

inferred from DOI database lookup

mMass data miner: an open source alternative for mass spectrometric data analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21212

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21212

7 January 2021

based on heuristic

inferred from DOI database lookup

First U.S. case of adenylosuccinate lyase deficiency with severe hypotonia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21212

7 January 2021

based on heuristic

inferred from DOI database lookup

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/10.1002%2FHUMU.21212

7 January 2021

based on heuristic

inferred from DOI database lookup

The purine nucleotide cycle and its molecular defects

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21212

7 January 2021

based on heuristic

inferred from DOI database lookup

Adenylosuccinase deficiency.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21212

7 January 2021

based on heuristic

inferred from DOI database lookup

A somatic cell hybrid with a single human chromosome 22 corrects the defect in the CHO mutant (Ade-I) lacking adenylosuccinase activity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21212

7 January 2021

based on heuristic

inferred from DOI database lookup

Some regulatory and integrative aspects of purine nucleotide biosynthesis and its control: An overview

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21212

7 January 2021

based on heuristic

inferred from DOI database lookup

Blue native PAGE

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21212

7 January 2021

based on heuristic

inferred from DOI database lookup

Intragenic complementation and the structure and function of argininosuccinate lyase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21212

7 January 2021

based on heuristic

inferred from DOI database lookup

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

https://api.crossref.org/works/10.1002%2FHUMU.21212

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.21212

1 reference

Europe PubMed Central

PubMed publication ID

15 November 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

15 November 2017

ResearchGate publication ID

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