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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 (zeige XIAP Proteine) and Bcl-2 (zeige BCL2 Proteine). ARTS functions as a distinct Bcl-2 (zeige BCL2 Proteine) 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 (zeige CALR Proteine) cells that overexpressed miR124 or with knockdown of RPIA (zeige RPIA Proteine) 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 (zeige SP1 Proteine) could regulate the activity of the ARTS promoter through multiple Sp1 (zeige PSG1 Proteine) 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.
PRPS1 knockdown prolonged survival time, reduced tumor volume and upregulated apoptosis in xenograft mouse model of glioma.
Only unedited pri-miR (zeige MLXIP Proteine)-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 (zeige MLXIP Proteine)-376 cluster.
PRPS1 loss of function mutations cause a type of nonsyndromic X-linked sensorineural deafness, DFN2
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