AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC (Q24534042)

2

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Pierre Bitoun

3

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Therese Timmerman

4

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Georges Van Den Berghe

5

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Marie-Francoise Vincent

American Journal of Human Genetics

6

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language of work or name

English

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publication date

June 2004

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published in

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volume

74

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issue

6

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page(s)

1276-81

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cites work

The human purH gene product, 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase. Cloning, sequencing, expression, purification, kinetic analysis, and domain mapping

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Crystal structure of a bifunctional transformylase and cyclohydrolase enzyme in purine biosynthesis

24 March 2017

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An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids

24 March 2017

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5'-aminoimidazole-4-carboxamide riboside induces apoptosis in human neuroblastoma cells.

24 March 2017

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Chronic activation of 5'-AMP-activated protein kinase increases GLUT-4, hexokinase, and glycogen in muscle

27 September 2017

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Z-nucleotide accumulation in erythrocytes from Lesch-Nyhan patients

27 September 2017

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Increased adenosine concentration in blood from ischemic myocardium by AICA riboside. Effects on flow, granulocytes, and injury

27 September 2017

1 reference

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Hypoglycaemic effect of AICAriboside in mice.

27 September 2017

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The Enzymatic Synthesis of 5-Amino-4-Imidazolecarboxamide Riboside Triphosphate (ZTP)

30 May 2018

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The urinary excretion of aminoimidazolecarboxamide in the Lesch-Nyhan syndrome

30 May 2018

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Detection of 5'-phosphoribosyl-4-(N-succinylcarboxamide)-5-aminoimidazole in urine by use of the Bratton-Marshall reaction: identification of patients deficient in adenylosuccinate lyase activity

30 May 2018

1 reference

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Inhibition of glycolysis by 5-amino-4-imidazolecarboxamide riboside in isolated rat hepatocytes

30 May 2018

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Prenatal diagnosis in adenylosuccinate lyase deficiency.

30 May 2018

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Urinary aminoimidazolecarboxamide levels in children with acute leukemia

29 November 2018

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12 December 2020

Detailed comparison of the urinary excretion of purines in a patient with the Lesch-Nyhan syndrome and a control subject

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12 December 2020

Metabolism of 5-amino-4-imidazolecarboxamide riboside in cardiac and skeletal muscle. Effects on purine nucleotide synthesis

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12 December 2020

Inhibition by AICA Riboside of Gluconeogenesis in Isolated Rat Hepatocytes

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12 December 2020

Inhibition of fatty acid and cholesterol synthesis by stimulation of AMP-activated protein kinase

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12 December 2020

Stimulation of rat liver AMP-activated protein kinase by AMP analogues

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12 December 2020

Substrate cycling between 5-amino-4-imidazolecarboxamide riboside and its monophosphate in isolated rat hepatocytes

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12 December 2020

Identifiers

DOI

10.1086/421475

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release_gixgareuzvg4powegj7cup7bwi

Fatcat ID

0 references

1 reference

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PubMed publication ID

15114530

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