Mutant feedback-resistant phosphoribosylpyrophosphate synthetase associated with purine overproduction and gout. Phosphoribosylpyrophosphate and purine metabolism in cultured fibroblasts
about
Crystal structure of human phosphoribosylpyrophosphate synthetase 1 reveals a novel allosteric siteArts syndrome is caused by loss-of-function mutations in PRPS1Ribose metabolism and nucleic acid synthesis in normal and glucose-6-phosphate dehydrogenase-deficient human erythrocytes infected with Plasmodium falciparumExpression, purification, crystallization and preliminary X-ray diffraction analysis of human phosphoribosyl pyrophosphate synthetase 1 (PRS1)Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivityAssociation of PRPS1 Mutations with Disease PhenotypesWild-type phosphoribosylpyrophosphate synthase (PRS) from Mycobacterium tuberculosis: a bacterial class II PRS?Heberden oration 1979: human aberrations of purine metabolism and their significance for rheumatology.Evidence for X-linkage of human phosphoribosylpyrophosphate synthetase.PRPS1 mutations: four distinct syndromes and potential treatment.Selective expression of phosphoribosylpyrophosphate synthetase superactivity in human lymphoblast lines.Negative feedback-defective PRPS1 mutants drive thiopurine resistance in relapsed childhood ALL.Variant human phosphoribosylpyrophosphate synthetase altered in regulatory and catalytic functionsPurine metabolism in cultured human fibroblasts derived from patients deficient in hypoxanthine phosphoribosyltransferase, purine nucleoside phosphorylase, or adenosine deaminase.De novo synthesis of purine nucleotides in human peripheral blood leukocytes. Excessive activity of the pathway in hypoxanthine-guanine phosphoribosyltransferase deficiency.Overexpression of the normal phosphoribosylpyrophosphate synthetase 1 isoform underlies catalytic superactivity of human phosphoribosylpyrophosphate synthetase.Wild-type and feedback-resistant phosphoribosyl pyrophosphate synthetases from Bacillus amyloliquefaciens: purification, characterization, and application to increase purine nucleoside production.A profound computational study to prioritize the disease-causing mutations in PRPS1 gene.Accelerated transcription of PRPS1 in X-linked overactivity of normal human phosphoribosylpyrophosphate synthetase.Novel PRPS1 gain-of-function mutation in a patient with congenital hyperuricemia and facial anomalies.The British Society for Rheumatology Guideline for the Management of Gout.Multiple Membrane Transporters and Some Immune Regulatory Genes are Major Genetic Factors to Gout
P2860
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P2860
Mutant feedback-resistant phosphoribosylpyrophosphate synthetase associated with purine overproduction and gout. Phosphoribosylpyrophosphate and purine metabolism in cultured fibroblasts
description
1975 nî lūn-bûn
@nan
1975 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1975 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1975年の論文
@ja
1975年論文
@yue
1975年論文
@zh-hant
1975年論文
@zh-hk
1975年論文
@zh-mo
1975年論文
@zh-tw
1975年论文
@wuu
name
Mutant feedback-resistant phos ...... bolism in cultured fibroblasts
@ast
Mutant feedback-resistant phos ...... bolism in cultured fibroblasts
@en
Mutant feedback-resistant phos ...... bolism in cultured fibroblasts
@nl
type
label
Mutant feedback-resistant phos ...... bolism in cultured fibroblasts
@ast
Mutant feedback-resistant phos ...... bolism in cultured fibroblasts
@en
Mutant feedback-resistant phos ...... bolism in cultured fibroblasts
@nl
prefLabel
Mutant feedback-resistant phos ...... bolism in cultured fibroblasts
@ast
Mutant feedback-resistant phos ...... bolism in cultured fibroblasts
@en
Mutant feedback-resistant phos ...... bolism in cultured fibroblasts
@nl
P2860
P356
P1476
Mutant feedback-resistant phos ...... bolism in cultured fibroblasts
@en
P2093
P2860
P304
P356
10.1172/JCI108183
P407
P577
1975-11-01T00:00:00Z