Additive reductions in zebrafish PRPS1 activity result in a spectrum of deficiencies modeling several human PRPS1-associated diseases-Reference-Cited by-同舟云学术

Additive reductions in zebrafish PRPS1 activity result in a spectrum of deficiencies modeling several human PRPS1-associated diseases

Published:2016-07-18 Issue:1 Volume:6 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Pei Wuhong,Xu Lisha,Varshney Gaurav K.,Carrington Blake,Bishop Kevin,Jones MaryPat,Huang Sunny C.,Idol Jennifer,Pretorius Pamela R.,Beirl Alisha,Schimmenti Lisa A.,Kindt Katie S.,Sood Raman,Burgess Shawn M.

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/srep29946.pdf

Reference46 articles.

1. Becker, M. A. Phosphoribosylpyrophosphate synthetase and the regulation of phosphoribosylpyrophosphate production in human cells. Prog Nucleic Acid Res Mol Biol 69, 115–148 (2001).

2. Duley, J. A., Christodoulou, J. & de Brouwer, A. P. The PRPP synthetase spectrum: what does it demonstrate about nucleotide syndromes? Nucleosides Nucleotides Nucleic Acids 30, 1129–1139, doi: 10.1080/15257770.2011.591747 (2011).

3. de Brouwer, A. P. et al. PRPS1 mutations: four distinct syndromes and potential treatment. Am J Hum Genet 86, 506–518, doi: 10.1016/j.ajhg.2010.02.024 (2010).

4. Gandia, M. et al. Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling. Pediatr Res, doi: 10.1038/pr.2015.56 (2015).

5. Robusto, M. et al. The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy. Eur J Hum Genet, doi: 10.1038/ejhg.2014.168 (2014).

Cited by 29 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Understanding Hyperuricemia: Pathogenesis, Potential Therapeutic Role of Bioactive Peptides, and Assessing Bioactive Peptide Advantages and Challenges;Foods;2023-12-13

2. Chimonanthus nitens Oliv. leaves flavonoids alleviate hyperuricemia by regulating uric acid metabolism and intestinal homeostasis in mice;Food Science and Human Wellness;2023-11

3. Toxic effects and toxicological mechanisms of chlorinated paraffins: A review for insight into species sensitivity and toxicity difference;Environment International;2023-08

4. Inborn Errors of Purine Salvage and Catabolism;Metabolites;2023-06-24

5. Functional inference of gene regulation using single-cell multi-omics;Cell Genomics;2022-09