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suggests that the four mutations might affect the PRPS1 protein function and stability of the structure
This report highlights the unexpected finding of retinal degeneration in females caused by missense variants in the X-linked gene PRPS1 and expands our understanding of the phenotypic outcome of specific variants.
ARTS binds directly to both XIAP and Bcl-2. ARTS functions as a distinct Bcl-2 antagonist by binding and leading to its degradation.
A novel PRPS1 mutation related to early-onset progressive nonsyndromic hearing loss.
High PRPS1 expression is associated with chemoresistance in breast cancer.
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 cells that overexpressed miR124 or with knockdown of RPIA 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 could regulate the activity of the ARTS promoter through multiple Sp1 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 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.
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.
missense mutations in PRPS1 can cause a continuous spectrum of features ranging from progressive non-syndromic postlingual hearing impairment to uric acid overproduction, and recurrent infections depending on the functional sites that are affected
Translocation of ARTS initiates a first wave of caspase activation leading to the subsequent release of additional mitochondrial factors, including cytochrome C and SMAC/Diablo.
Three HPRT1 mutations in Lesch-Nyhan families were identified but no mutation was identified in any patient in the analysis of PRPS1.
Refinements were made on the DFN2 locus on the X chromosome.
In four hyperuricemic patients with mild neurological abnormality, molecular analysis of PRPS1 was performed , but no mutations in PRPP synthetase were found.
mutations in PRPS1 result in phenotypic deficiencies in zebrafish similar to those in the associated human diseases.
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
, phosphoribosyl pyrophosphate synthetase 1 L homeolog