PMC Links for Gene (Select 5631) - PMC

Links from Gene

Items: 1 to 20 of 98

<< First< Prev

Page of 5

Select item 67322711.

New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient

Justine Lerat, Corinne Magdelaine, Paco Derouault, Hélène Beauvais‐Dzugan, Eric Bieth, Blandine Acket, Marie‐Christine Arne‐Bes, Franck Sturtz, Anne‐Sophie Lia

Mol Genet Genomic Med. 2019 Sep; 7(9): e875. Published online 2019 Jul 23. doi: 10.1002/mgg3.875

PMCID:: PMC6732271

Article PDF–756K

Select item 62375732.

Increase of PRPP enhances chemosensitivity of PRPS1 mutant acute lymphoblastic leukemia cells to 5‐Fluorouracil

Dan Wang, Yao Chen, Houshun Fang, Liang Zheng, Ying Li, Fan Yang, Yan Xu, Lijuan Du, Bin‐Bing S. Zhou, Hui Li

J Cell Mol Med. 2018 Dec; 22(12): 6202–6212. Published online 2018 Sep 25. doi: 10.1111/jcmm.13907

PMCID:: PMC6237573

Article PDF–1.4M

Select item 52810593.

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

So Young Kim, Ah Reum Kim, Nayoung K. D. Kim, Chung Lee, Jin Hee Han, Min Young Kim, Eun-Hee Jeon, Woong-Yang Park, Rahul Mittal, Denise Yan, Xue Zhong Liu, Byung Yoon Choi

J Gene Med. Author manuscript; available in PMC 2017 Nov 1.

Published in final edited form as: J Gene Med. 2016 Nov; 18(11-12): 353–358. doi: 10.1002/jgm.2935

PMCID:: PMC5281059

Article PDF–356K

Select item 46700834.

Negative feedback-defective PRPS1 mutants drive thiopurine resistance in relapsed childhood ALL

Benshang Li, Hui Li, Yun Bai, Renate Kirschner-Schwabe, Jun J Yang, Yao Chen, Gang Lu, Gannie Tzoneva, Xiaotu Ma, Tongmin Wu, Wenjing Li, Haisong Lu, Lixia Ding, Huanhuan Liang, Xiaohang Huang, Minjun Yang, Lei Jin, Hui Kang, Shuting Chen, Alicia Du, Shuhong Shen, Jianping Ding, Hongzhuan Chen, Jing Chen, Arend von Stackelberg, Longjun Gu, Jinghui Zhang, Adolfo Ferrando, Jingyan Tang, Shengyue Wang, Bin-Bing S. Zhou

Nat Med. Author manuscript; available in PMC 2015 Dec 4.

Published in final edited form as: Nat Med. 2015 Jun; 21(6): 563–571. Published online 2015 May 11. doi: 10.1038/nm.3840

PMCID:: PMC4670083

Article PDF–925K

Select item 45110875.

Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy

Xue Zhong Liu, Dinghua Xie, Hui Jun Yuan, Arjan P. M. de Brouwer, John Christodoulou, Denise Yan

Int J Audiol. Author manuscript; available in PMC 2015 Jul 22.

Published in final edited form as: Int J Audiol. 2013 Jan; 52(1): 23–28. Published online 2012 Nov 28. doi: 10.3109/14992027.2012.736032

PMCID:: PMC4511087

Article PDF–181K

Select item 44582966.

Association of PRPS1 Mutations with Disease Phenotypes

Rahul Mittal, Kunal Patel, Jeenu Mittal, Brandon Chan, Denise Yan, M'hamed Grati, Xue Zhong Liu

Dis Markers. 2015; 2015: 127013. Published online 2015 May 24. doi: 10.1155/2015/127013

PMCID:: PMC4458296

Article PDF–587K

Select item 39314887.

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

Matthis Synofzik, Jennifer Müller vom Hagen, Tobias B Haack, Christian Wilhelm, Tobias Lindig, Stefanie Beck-Wödl, Sander B Nabuurs, André BP van Kuilenburg, Arjan PM de Brouwer, Ludger Schöls

Orphanet J Rare Dis. 2014; 9: 24. Published online 2014 Feb 14. doi: 10.1186/1750-1172-9-24

PMCID:: PMC3931488

Article PDF–1.9M

Select item 28504278.

PRPS1 Mutations: Four Distinct Syndromes and Potential Treatment

Arjan P.M. de Brouwer, Hans van Bokhoven, Sander B. Nabuurs, Willem Frans Arts, John Christodoulou, John Duley

Am J Hum Genet. 2010 Apr 9; 86(4): 506–518. doi: 10.1016/j.ajhg.2010.02.024

PMCID:: PMC2850427

Article PDF–861K

Select item 22199829.

Expression, purification, crystallization and preliminary X-ray diffraction analysis of human phosphoribosyl pyrophosphate synthetase 1 (PRS1)

Wenying Tang, Xiaowu Li, Zhiqiang Zhu, Shuilong Tong, Xu Li, Xiao Zhang, Maikun Teng, Liwen Niu

Acta Crystallogr Sect F Struct Biol Cryst Commun. 2006 May 1; 62(Pt 5): 432–434. Published online 2006 Apr 12. doi: 10.1107/S1744309106009067

PMCID:: PMC2219982

Article PDF–138K

Select item 127692110.

Identification of a novel p300-specific-associating protein, PRS1 (phosphoribosylpyrophosphate synthetase subunit 1)

Atsushi Kaida, Yasuo Ariumi, Keiko Baba, Masami Matsubae, Toshifumi Takao, Kunitada Shimotohno

Biochem J. 2005 Oct 15; 391(Pt 2): 239–247. Prepublished online 2005 Jun 9. Published online 2005 Oct 10. doi: 10.1042/BJ20041308

PMCID:: PMC1276921

Article PDF–625K

Select item 33023111.

Cloning of two distinct copies of human phosphoribosylpyrophosphate synthetase cDNA.

B J Roessler, G Bell, S Heidler, S Seino, M Becker, T D Palella

Nucleic Acids Res. 1990 Jan 11; 18(1): 193. doi: 10.1093/nar/18.1.193

PMCID:: PMC330231

Summary Page Browse PDF–185K

Select item 790616912.

PRPS1-mediated purine biosynthesis is critical for pluripotent stem cell survival and stemness

Yi Yang, Lili Song, Xia Huang, Yanan Feng, Yingwen Zhang, Yanfeng Liu, Shanshan Li, Zhiyan Zhan, Liang Zheng, Haizhong Feng, Yanxin Li

Aging (Albany NY) 2021 Feb 15; 13(3): 4063–4078. Published online 2021 Jan 20. doi: 10.18632/aging.202372

PMCID:: PMC7906169

Article PDF–2.1M

Select item 436617213.

Specificity Protein 1 Transcription Factor Regulates Human ARTS Promoter Activity through Multiple Binding Sites

Feifan Xu, Wei Sun, Pan Li, Jinling Chen, Dandan Zhu, Xiaolei Sun, Jianxin Wang, Jinrong Feng, Ke Song, Yinong Duan

PLoS One. 2015; 10(3): e0120072. Published online 2015 Mar 19. doi: 10.1371/journal.pone.0120072

PMCID:: PMC4366172

Article PDF–360K

Select item 427278014.

Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy

Berta Almoguera, Sijie He, Marta Corton, Patricia Fernandez-San Jose, Fiona Blanco-Kelly, Maria Isabel López-Molina, Blanca García-Sandoval, Javier del Val, Yiran Guo, Lifeng Tian, Xuanzhu Liu, Liping Guan, Rosa J Torres, Juan G Puig, Hakon Hakonarson, Xun Xu, Brendan Keating, Carmen Ayuso

Orphanet J Rare Dis. 2014; 9: 190. Published online 2014 Dec 10. doi: 10.1186/s13023-014-0190-9

PMCID:: PMC4272780

Article PDF–1.7M

Select item 280175115.

Loss-of-Function Mutations in the PRPS1 Gene Cause a Type of Nonsyndromic X-linked Sensorineural Deafness, DFN2

Xuezhong Liu, Dongyi Han, Jianzhong Li, Bing Han, Xiaomei Ouyang, Jing Cheng, Xu Li, Zhanguo Jin, Youqin Wang, Maria Bitner-Glindzicz, Xiangyin Kong, Heng Xu, Albena Kantardzhieva, Roland D. Eavey, Christine E. Seidman, Jonathan G. Seidman, Li L. Du, Zheng-Yi Chen, Pu Dai, Maikun Teng, Denise Yan, Huijun Yuan

Am J Hum Genet. 2010 Jan 8; 86(1): 65–71. doi: 10.1016/j.ajhg.2009.11.015

PMCID:: PMC2801751

Article PDF–1014K

Select item 195083316.

Mutations in PRPS1, Which Encodes the Phosphoribosyl Pyrophosphate Synthetase Enzyme Critical for Nucleotide Biosynthesis, Cause Hereditary Peripheral Neuropathy with Hearing Loss and Optic Neuropathy (CMTX5)

Hee-Jin Kim, Kwang-Min Sohn, Michael E. Shy, Karen M. Krajewski, Miok Hwang, June-Hee Park, Sue-Yon Jang, Hong-Hee Won, Byung-Ok Choi, Sung Hwa Hong, Byoung-Joon Kim, Yeon-Lim Suh, Chang-Seok Ki, Soo-Youn Lee, Sun-Hee Kim, Jong-Won Kim

Am J Hum Genet. 2007 Sep; 81(3): 552–558. Published online 2007 Jun 29. doi: 10.1086/519529

PMCID:: PMC1950833

Article PDF–613K

Select item 169867317.

Crystal structure of human phosphoribosylpyrophosphate synthetase 1 reveals a novel allosteric site

Sheng Li, Yongcheng Lu, Baozhen Peng, Jianping Ding

Biochem J. 2007 Jan 1; 401(Pt 1): 39–47. Prepublished online 2006 Aug 30. Published online 2006 Dec 11. doi: 10.1042/BJ20061066

PMCID:: PMC1698673

Article PDF–805K

Select item 858134018.

NUDT15 polymorphism and NT5C2 and PRPS1 mutations influence thiopurine sensitivity in acute lymphoblastic leukaemia cells

Shinpei Somazu, Yoichi Tanaka, Minori Tamai, Atsushi Watanabe, Keiko Kagami, Masako Abe, Daisuke Harama, Tamao Shinohara, Koshi Akahane, Kumiko Goi, Kanji Sugita, Takaya Moriyama, Jun Yang, Hiroaki Goto, Masayoshi Minegishi, Shotaro Iwamoto, Junko Takita, Takeshi Inukai

J Cell Mol Med. 2021 Nov; 25(22): 10521–10533. Published online 2021 Oct 12. doi: 10.1111/jcmm.16981

PMCID:: PMC8581340

Article PDF–1.5M

Select item 729969219.

Molecular mechanism of c‐Myc and PRPS1/2 against thiopurine resistance in Burkitt's lymphoma

Ting Li, Lili Song, Yingwen Zhang, Yali Han, Zhiyan Zhan, Zhou Xv, Yang Li, Yuejia Tang, Yi Yang, Siqi Wang, Shanshan Li, Liang Zheng, Yanxin Li, Yijin Gao

J Cell Mol Med. 2020 Jun; 24(12): 6704–6715. Published online 2020 May 11. doi: 10.1111/jcmm.15322

PMCID:: PMC7299692

Article PDF–1.0M

Select item 620941620.

Next-Generation Sequencing and Quantitative Proteomics of Hutchinson-Gilford progeria syndrome-derived cells point to a role of nucleotide metabolism in premature aging

Jesús Mateos, Juan Fafián-Labora, Miriam Morente-López, Iván Lesende-Rodriguez, Lorenzo Monserrat, María A. Ódena, Eliandre de Oliveira, Javier de Toro, María C. Arufe

PLoS One. 2018; 13(10): e0205878. Published online 2018 Oct 31. doi: 10.1371/journal.pone.0205878

PMCID:: PMC6209416

Article PDF–2.7M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 98

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity