| Circular RNA circKIF2A Contributes to the Progression of Neuroblastoma Through Regulating PRPS1 Expression by Sponging miR-377-3p. | Circular RNA circKIF2A Contributes to the Progression of Neuroblastoma Through Regulating PRPS1 Expression by Sponging miR-377-3p.
Jin Q, Li J, Yang F, Feng L, Du X. | 07/16/2022 |
| NUDT15 polymorphism and NT5C2 and PRPS1 mutations influence thiopurine sensitivity in acute lymphoblastic leukaemia cells. | NUDT15 polymorphism and NT5C2 and PRPS1 mutations influence thiopurine sensitivity in acute lymphoblastic leukaemia cells.
Somazu S, Tanaka Y, Tamai M, Watanabe A, Kagami K, Abe M, Harama D, Shinohara T, Akahane K, Goi K, Sugita K, Moriyama T, Yang J, Goto H, Minegishi M, Iwamoto S, Takita J, Inukai T., Free PMC Article | 03/19/2022 |
| SNHG16 knockdown inhibits tumorigenicity of neuroblastoma in children via miR-15b-5p/PRPS1 axis. | SNHG16 knockdown inhibits tumorigenicity of neuroblastoma in children via miR-15b-5p/PRPS1 axis.
Ge Y, Tan S, Bi J, Rao M, Yu Y, Tian L. | 10/30/2021 |
| PRPS1-mediated purine biosynthesis is critical for pluripotent stem cell survival and stemness. | PRPS1-mediated purine biosynthesis is critical for pluripotent stem cell survival and stemness.
Yang Y, Song L, Huang X, Feng Y, Zhang Y, Liu Y, Li S, Zhan Z, Zheng L, Feng H, Li Y., Free PMC Article | 08/21/2021 |
| PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review. | PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review.
Mercati O, Abi Warde MT, Lina-Granade G, Rio M, Heide S, de Lonlay P, Ceballos-Picot I, Robert MP, Couloigner V, Beltrand J, Boddaert N, Rodriguez D, Rubinato E, Lapierre JM, Merlette C, Sanquer S, Rötig A, Prokisch H, Lyonnet S, Loundon N, Kaplan J, Bonnefont JP, Munnich A, Besmond C, Jonard L, Marlin S. | 05/1/2021 |
| Molecular mechanism of c-Myc and PRPS1/2 against thiopurine resistance in Burkitt's lymphoma. | Molecular mechanism of c-Myc and PRPS1/2 against thiopurine resistance in Burkitt's lymphoma.
Li T, Song L, Zhang Y, Han Y, Zhan Z, Xv Z, Li Y, Tang Y, Yang Y, Wang S, Li S, Zheng L, Li Y, Gao Y., Free PMC Article | 05/1/2021 |
| A novel mutation in gene of PRPS1 in a young Chinese woman with X-linked gout: a case report and review of the literature. | A novel mutation in gene of PRPS1 in a young Chinese woman with X-linked gout: a case report and review of the literature.
Yang BY, Yu HX, Min J, Song XX. | 01/9/2021 |
| High PRPS1 expression is associated with colorectal cancer. | Cell-Cycle-Dependent Phosphorylation of PRPS1 Fuels Nucleotide Synthesis and Promotes Tumorigenesis.
Jing X, Wang XJ, Zhang T, Zhu W, Fang Y, Wu H, Liu X, Ma D, Ji X, Jiang Y, Liu K, Chen X, Shi Y, Zhang Y, Shi M, Qiu W, Zhao R. | 05/30/2020 |
| CMTX5 is probably under-diagnosed, as an overlap among the different features due to PRPS1 exists. Patients who developed polyneuropathy associated to sensorineural deafness and optic atrophy during childhood should be assessed for | New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient.
Lerat J, Magdelaine C, Derouault P, Beauvais-Dzugan H, Bieth E, Acket B, Arne-Bes MC, Sturtz F, Lia AS., Free PMC Article | 05/30/2020 |
| Our study not only provides mechanistic rationale for re-targeting drug resistant cells in acute lymphoblastic leukemia (ALL), but also implicates that ALL patients who harbor relapse-specific mutations of PRPS1 might benefit from 5-FU-based chemotherapy in clinical settings. | Increase of PRPP enhances chemosensitivity of PRPS1 mutant acute lymphoblastic leukemia cells to 5-Fluorouracil.
Wang D, Chen Y, Fang H, Zheng L, Li Y, Yang F, Xu Y, Du L, Zhou BS, Li H., Free PMC Article | 11/2/2019 |
| PRPS1 protein and transcript levels are detected as significantly decreased in cell lines derived from the Hutchinson-Gilford progeria syndrome patients. | Next-Generation Sequencing and Quantitative Proteomics of Hutchinson-Gilford progeria syndrome-derived cells point to a role of nucleotide metabolism in premature aging.
Mateos J, Fafián-Labora J, Morente-López M, Lesende-Rodriguez I, Monserrat L, Ódena MA, Oliveira E, de Toro J, Arufe MC., Free PMC Article | 03/30/2019 |
| suggests that the four mutations might affect the PRPS1 protein function and stability of the structure | A profound computational study to prioritize the disease-causing mutations in PRPS1 gene.
Agrahari AK, Sneha P, George Priya Doss C, Siva R, Zayed H. | 12/22/2018 |
| 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. | Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.
Fiorentino A, Fujinami K, Arno G, Robson AG, Pontikos N, Arasanz Armengol M, Plagnol V, Hayashi T, Iwata T, Parker M, Fowler T, Rendon A, Gardner JC, Henderson RH, Cheetham ME, Webster AR, Michaelides M, Hardcastle AJ, 100,000 Genomes Project, the Japan Eye Genetic Consortium and the UK Inherited Retinal Dystrophy Consortium. | 07/21/2018 |
| ARTS binds directly to both XIAP and Bcl-2. ARTS functions as a distinct Bcl-2 antagonist by binding and leading to its degradation. | Degradation of Bcl-2 by XIAP and ARTS Promotes Apoptosis.
Edison N, Curtz Y, Paland N, Mamriev D, Chorubczyk N, Haviv-Reingewertz T, Kfir N, Morgenstern D, Kupervaser M, Kagan J, Kim HT, Larisch S., Free PMC Article | 06/16/2018 |
| A novel PRPS1 mutation related to early-onset progressive nonsyndromic hearing loss. | Functional characterization of a novel loss-of-function mutation of PRPS1 related to early-onset progressive nonsyndromic hearing loss in Koreans (DFNX1): Potential implications on future therapeutic intervention.
Kim SY, Kim AR, Kim NK, Lee C, Han JH, Kim MY, Jeon EH, Park WY, Mittal R, Yan D, Liu XZ, Choi BY., Free PMC Article | 12/30/2017 |
| High PRPS1 expression is associated with chemoresistance in breast cancer. | PRPS1 silencing reverses cisplatin resistance in human breast cancer cells.
He M, Chao L, You YP. | 08/19/2017 |
| evaluation of current literature on PRPS1-related syndromes and summaries of potential therapies [review] | Association of PRPS1 Mutations with Disease Phenotypes.
Mittal R, Patel K, Mittal J, Chan B, Yan D, Grati M, Liu XZ., Free PMC Article | 04/30/2016 |
| analysis of intrafamilial phenotypic variation associated with a single PRPS1 mutation in syndromic or nonsyndromic hearing impairment | Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling.
Gandía M, Fernández-Toral J, Solanellas J, Domínguez-Ruiz M, Gómez-Rosas E, Del Castillo FJ, Villamar M, Moreno-Pelayo MA, Del Castillo I. | 04/16/2016 |
| 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. | MicroRNA-124 reduces the pentose phosphate pathway and proliferation by targeting PRPS1 and RPIA mRNAs in human colorectal cancer cells.
Qiu Z, Guo W, Wang Q, Chen Z, Huang S, Zhao F, Yao M, Zhao Y, He X. | 04/9/2016 |
| 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. | Specificity protein 1 transcription factor regulates human ARTS promoter activity through multiple binding sites.
Xu F, Sun W, Li P, Chen J, Zhu D, Sun X, Wang J, Feng J, Song K, Duan Y., Free PMC Article | 02/27/2016 |
| Females with a missense mutation in PRPS1, exhibit neuropathy, hearing loss and retinopathy. | Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.
Almoguera B, He S, Corton M, Fernandez-San Jose P, Blanco-Kelly F, López-Molina MI, García-Sandoval B, Del Val J, Guo Y, Tian L, Liu X, Guan L, Torres RJ, Puig JG, Hakonarson H, Xu X, Keating B, Ayuso C., Free PMC Article | 10/31/2015 |
| the de novo purine synthesis inhibitor lometrexol effectively abrogated PRPS1 mutant-driven drug resistance. | Negative feedback-defective PRPS1 mutants drive thiopurine resistance in relapsed childhood ALL.
Li B, Li H, Bai Y, Kirschner-Schwabe R, Yang JJ, Chen Y, Lu G, Tzoneva G, Ma X, Wu T, Li W, Lu H, Ding L, Liang H, Huang X, Yang M, Jin L, Kang H, Chen S, Du A, Shen S, Ding J, Chen H, Chen J, von Stackelberg A, Gu L, Zhang J, Ferrando A, Tang J, Wang S, Zhou BB., Free PMC Article | 09/5/2015 |
| 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. | Expression of phosphoribosyl pyrophosphate synthetase genes in U87 glioma cells with ERN1 knockdown: effect of hypoxia and endoplasmic reticulum stress.
Minchenko OH, Garmash IA, Kovalevska OV, Tsymbal DO, Minchenko DO. | 08/1/2015 |
| 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 | X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation.
Synofzik M, Müller vom Hagen J, Haack TB, Wilhelm C, Lindig T, Beck-Wödl S, Nabuurs SB, van Kuilenburg AB, de Brouwer AP, Schöls L., Free PMC Article | 11/22/2014 |
| The crystal structure of the ADP-binding pocket of the PRPS1 D52H-mutant and evidence of reduced inhibitor sensitivity. | A small disturbance, but a serious disease: the possible mechanism of D52H-mutant of human PRS1 that causes gout.
Chen P, Li J, Ma J, Teng M, Li X. | 03/15/2014 |