Arts syndrome is caused by loss-of-function mutations in PRPS1 (Q24337475)

hypoxanthine biosynthetic process

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

17

0 references

Kelly L Williams

Kelly L Williams

2

0 references

John Christodoulou

John Christodoulou

16

0 references

Ben Hamel

11

Ben C J Hamel

0 references

Arjan P M de Brouwer

1

Arjan P M de Brouwer

0 references

Ron A. Wevers

15

Ron A Wevers

0 references

Sander B Nabuurs

5

Sander B Nabuurs

0 references

Dorien Lugtenberg

7

Dorien Lugtenberg

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author name string

John A Duley

3

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André B P van Kuilenburg

4

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Michael Egmont-Petersen

6

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Lida Zoetekouw

8

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Martijn J G Banning

9

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Melissa Roeffen

10

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Linda Weaving

12

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Robert A Ouvrier

13

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Jennifer A Donald

American Journal of Human Genetics

14

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language of work or name

English

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publication date

September 2007

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published in

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volume

81

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page(s)

507-18

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issue

3

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cites work

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Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor

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30 May 2018

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Cloning of cDNAs for human phosphoribosylpyrophosphate synthetases 1 and 2 and X chromosome localization of PRPS1 and PRPS2 genes

30 May 2018

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30 May 2018

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Inherited superactivity of phosphoribosylpyrophosphate synthetase: association of uric acid overproduction and sensorineural deafness.

30 May 2018

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30 May 2018

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Protein glycosylation: chaperone mutation in Tn syndrome

29 November 2018

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Adenine and adenosine salvage pathways in erythrocytes and the role of S-adenosylhomocysteine hydrolase. A theoretical study using elementary flux modes

29 November 2018

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Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype.

29 November 2018

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Interaction of hemoglobin E and pyrimidine 5' nucleotidase deficiency

29 November 2018

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Overexpression of the normal phosphoribosylpyrophosphate synthetase 1 isoform underlies catalytic superactivity of human phosphoribosylpyrophosphate synthetase

29 November 2018

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X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course.

29 November 2018

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An efficient method for routine Epstein-Barr virus immortalization of human B lymphocytes

29 November 2018

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Demonstration of induction of erythrocyte inosine monophosphate dehydrogenase activity in Ribavirin-treated patients using a high performance liquid chromatography linked method.

29 November 2018

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Hereditary orotic aciduria: long-term therapy with uridine and a trial of uracil

29 November 2018

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12 December 2020

Altered kinetic property of erythrocyte phosphoribosylpsyrophosphate synthetase in excessive purine production

1 reference

12 December 2020

Superactivity of human phosphoribosyl pyrophosphate synthetase due to altered regulation by nucleotide inhibitors and inorganic phosphate

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12 December 2020

ATP formation from deoxyadenosine in human erythrocytes: evidence for a hitherto unidentified route involving adenine and S-adenosylhomocysteine hydrolase

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12 December 2020

Effects of adenosine analogues on ATP concentrations in human erythrocytes. Further evidence for a route independent of adenosine kinase

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12 December 2020

Distinct neurological syndrome in two brothers with hyperuricaemia

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12 December 2020

Purine nucleoside transport and metabolism in isolated rat jejunum

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12 December 2020

Determination of phosphoribosylpyrophosphate synthetase activity in human cells by a non-isotopic, one step method

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12 December 2020