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PRPS1 encodes an enzyme that catalyzes the phosphoribosylation of ribose 5-phosphate to 5-phosphoribosyl-1-pyrophosphate, which is necessary for purine metabolism and nucleotide biosynthesis. Additionally we are shipping PRPS1 Proteins (21) and PRPS1 Kits (3) and many more products for this protein.
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Human Polyclonal PRPS1 Primary Antibody for EIA, WB - ABIN359137
Funes, Quintero, Henderson, Martinez, Qureshi, Westwood, Clements, Bourboulia, Pedley, Moncada, Boshoff: Transformation of human mesenchymal stem cells increases their dependency on oxidative phosphorylation for energy production. in Proceedings of the National Academy of Sciences of the United States of America 2007
evaluation of current literature on PRPS1-related syndromes and summaries of potential therapies [review]
analysis of intrafamilial phenotypic variation associated with a single PRPS1 mutation in syndromic or nonsyndromic hearing impairment
CRC (show CALR Antibodies) cells that overexpressed miR124 or with knockdown of RPIA (show RPIA Antibodies) or PRPS1 had reduced DNA synthesis and proliferation, whereas cells incubated with an inhibitor of miR124 had significantly increased DNA synthesis and proliferation and formed more colonies.
Study identified the critical region in the ARTS promoter and demonstrated that the Sp1 transcription factor (show SP1 Antibodies) could regulate the activity of the ARTS promoter through multiple Sp1 (show PSG1 Antibodies) binding sites.
Females with a missense mutation in PRPS1, exhibit neuropathy, hearing loss and retinopathy.
the de novo purine synthesis inhibitor lometrexol effectively abrogated PRPS1 mutant-driven drug resistance.
The expression of different genes encoding subunits of PRPS (show MSMB Antibodies) enzyme is affected by hypoxia in tumor glioma cells, but the effect of hypoxia is modified by suppression of endoplasmic reticulum stress signaling enzyme ERN1 (show ERN1 Antibodies).
respective phenotypic presentation seems to be determined by the exact PRPS1 mutation and the residual enzyme activity, the latter being largely influenced by the degree of skewed X-inactivation
The crystal structure of the ADP-binding pocket of the PRPS1 D52H-mutant and evidence of reduced inhibitor sensitivity.
Review: discuss role of PRPS1 mutations in hearing loss.
PRPS1 knockdown prolonged survival time, reduced tumor volume and upregulated apoptosis in xenograft mouse model of glioma.
Only unedited pri-miR (show MLXIP Antibodies)-376 RNAs were detected in the cochlea suggesting that the activity of PRPS1 in the inner ear may not be regulated through the editing of miR (show MLXIP Antibodies)-376 cluster.
PRPS1 loss of function mutations cause a type of nonsyndromic X-linked sensorineural deafness, DFN2
This gene encodes an enzyme that catalyzes the phosphoribosylation of ribose 5-phosphate to 5-phosphoribosyl-1-pyrophosphate, which is necessary for purine metabolism and nucleotide biosynthesis. Defects in this gene are a cause of phosphoribosylpyrophosphate synthetase superactivity, Charcot-Marie-Tooth disease X-linked recessive type 5 and Arts Syndrome. Two transcript variants encoding different isoforms have been found for this gene.
dJ1070B1.2 (phosphoribosyl pyrophosphate synthetase 1)
, deafness 2, perceptive, congenital
, deafness, X-linked 2, perceptive, congenital
, phosphoribosyl pyrophosphate synthase I
, ribose-phosphate diphosphokinase 1
, ribose-phosphate pyrophosphokinase 1
, phosphoribosyl pyrophosphate synthetase I