Variant human phosphoribosylpyrophosphate synthetase altered in regulatory and catalytic functions
about
Arts syndrome is caused by loss-of-function mutations in PRPS1Expression, purification, crystallization and preliminary X-ray diffraction analysis of human phosphoribosyl pyrophosphate synthetase 1 (PRS1)The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivityAssociation of PRPS1 Mutations with Disease PhenotypesReversal of autism-like behaviors and metabolism in adult mice with single-dose antipurinergic therapy.Human purine metabolism: some recent advances and relationships with immunodeficiencyPRPS1 mutations: four distinct syndromes and potential treatment.Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling.Selective expression of phosphoribosylpyrophosphate synthetase superactivity in human lymphoblast lines.prsB is an allele of the Salmonella typhimurium prsA gene: characterization of a mutant phosphoribosylpyrophosphate synthetase.Purine oversecretion in cultured murine lymphoma cells deficient in adenylosuccinate synthetase: genetic model for inherited hyperuricemia and goutDevelopmental disorder associated with increased cellular nucleotidase activity.Genetic studies on the role of the nucleoside transport function in nucleoside efflux, the inosine cycle, and purine biosynthesis.Overexpression of the normal phosphoribosylpyrophosphate synthetase 1 isoform underlies catalytic superactivity of human phosphoribosylpyrophosphate synthetase.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.
P2860
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P2860
Variant human phosphoribosylpyrophosphate synthetase altered in regulatory and catalytic functions
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on January 1980
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Variant human phosphoribosylpy ...... latory and catalytic functions
@en
Variant human phosphoribosylpy ...... atory and catalytic functions.
@nl
type
label
Variant human phosphoribosylpy ...... latory and catalytic functions
@en
Variant human phosphoribosylpy ...... atory and catalytic functions.
@nl
prefLabel
Variant human phosphoribosylpy ...... latory and catalytic functions
@en
Variant human phosphoribosylpy ...... atory and catalytic functions.
@nl
P2093
P2860
P356
P1476
Variant human phosphoribosylpy ...... latory and catalytic functions
@en
P2093
P2860
P304
P356
10.1172/JCI109640
P407
P577
1980-01-01T00:00:00Z