Literature DB >> 8646809

Determination of phosphoribosylpyrophosphate synthetase activity in human cells by a non-isotopic, one step method.

R J Torres1, F A Mateos, J G Puig, M A Becker.   

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Year:  1996        PMID： 8646809     DOI： 10.1016/0009-8981(95)06178-9

Source DB:  PubMed          Journal:  Clin Chim Acta        ISSN： 0009-8981            Impact factor:   3.786


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  4 in total

1.  Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.

Authors:  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
Journal:  Am J Hum Genet       Date:  2010-01       Impact factor: 11.025

2.  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).

Authors:  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
Journal:  Am J Hum Genet       Date:  2007-06-29       Impact factor: 11.025

3.  Arts syndrome is caused by loss-of-function mutations in PRPS1.

Authors:  Arjan P M de Brouwer; Kelly L Williams; John A Duley; André B P van Kuilenburg; Sander B Nabuurs; Michael Egmont-Petersen; Dorien Lugtenberg; Lida Zoetekouw; Martijn J G Banning; Melissa Roeffen; Ben C J Hamel; Linda Weaving; Robert A Ouvrier; Jennifer A Donald; Ron A Wevers; John Christodoulou; Hans van Bokhoven
Journal:  Am J Hum Genet       Date:  2007-08-03       Impact factor: 11.025

4.  The phosphatidylinositol 3-kinase/akt cassette regulates purine nucleotide synthesis.

Authors:  Wei Wang; Alla Fridman; William Blackledge; Stephen Connelly; Ian A Wilson; Renate B Pilz; Gerry R Boss
Journal:  J Biol Chem       Date:  2008-12-08       Impact factor: 5.157
  4 in total

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