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Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I.
Moran R, Kuilenburg AB, Duley J, Nabuurs SB, Retno-Fitri A, Christodoulou J, Roelofsen J, Yntema HG, Friedman NR, van Bokhoven H, de Brouwer AP. Moran R, et al. Am J Med Genet A. 2012 Feb;158A(2):455-60. doi: 10.1002/ajmg.a.34428. Epub 2012 Jan 13. Am J Med Genet A. 2012. PMID: 22246954
However, recurrent infections are a prominent feature of patients with Arts syndrome, which is caused by PRPS1 loss-of-function mutations, indicating that the patient reported here has an intermediate phenotype. Molecular modeling predicts that the p.Val142Leu change affec …
However, recurrent infections are a prominent feature of patients with Arts syndrome, which is caused by PRPS1 loss-of-function mutations, i …
The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity.
Becker MA, Smith PR, Taylor W, Mustafi R, Switzer RL. Becker MA, et al. J Clin Invest. 1995 Nov;96(5):2133-41. doi: 10.1172/JCI118267. J Clin Invest. 1995. PMID: 7593598 Free PMC article.
Cloning and sequencing of PRS1 and PRS2 cDNAs, derived from fibroblast total RNA of affected male patients by reverse transcription and PCR amplification, demonstrated that each PRS1 cDNA contained a distinctive single base substitution predicting a corresponding amino aci …
Cloning and sequencing of PRS1 and PRS2 cDNAs, derived from fibroblast total RNA of affected male patients by reverse transcription and PCR …
PRPS2 Expression Correlates with Sertoli-Cell Only Syndrome and Inhibits the Apoptosis of TM4 Sertoli Cells.
Lei B, Wan B, Peng J, Yang Y, Lv D, Zhou X, Shu F, Li F, Zhong L, Wu H, Mao X. Lei B, et al. J Urol. 2015 Nov;194(5):1491-7. doi: 10.1016/j.juro.2015.04.116. Epub 2015 May 22. J Urol. 2015. PMID: 26004865
RESULTS: PRPS2 expression in patients with Sertoli-cell only syndrome was significantly greater than in those with normal spermatogenesis. A significant increase in PRPS2 expression was observed in Sertoli-cell only syndrome mouse models. PRPS2 over expression significantl …
RESULTS: PRPS2 expression in patients with Sertoli-cell only syndrome was significantly greater than in those with normal spermatogenesis. A …