Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
2007 1
2008 1
2010 1
2011 1
2012 2
2013 1
2014 4
2015 4
2016 2
2017 2
2018 3
2019 2
2020 2
2021 2
2022 2
2023 4
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

26 results

Results by year

Filters applied: . Clear all
Page 1
Direct stimulation of de novo nucleotide synthesis by O-GlcNAcylation.
Chen L, Zhou Q, Zhang P, Tan W, Li Y, Xu Z, Ma J, Kupfer GM, Pei Y, Song Q, Pei H. Chen L, et al. Nat Chem Biol. 2024 Jan;20(1):19-29. doi: 10.1038/s41589-023-01354-x. Epub 2023 Jun 12. Nat Chem Biol. 2024. PMID: 37308732 Free PMC article.
Furthermore, Arts-syndrome-associated PRPS1 R196W mutant exhibits decreased PRPS1 O-GlcNAcylation and activity. Together, our findings establish a direct connection among O-GlcNAc signals, de novo nucleotide synthesis and human diseases, including canc …
Furthermore, Arts-syndrome-associated PRPS1 R196W mutant exhibits decreased PRPS1 O-GlcNAcylation and activity. …
Phosphoribosylpyrophosphate Synthetase Deficiency.
de Brouwer APM, Christodoulou J. de Brouwer APM, et al. 2008 Oct 21 [updated 2023 Jun 8]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2008 Oct 21 [updated 2023 Jun 8]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301738 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Phosphoribosylpyrophosphate synthetase (PRS) deficiency, an X-linked disorder, is a phenotypic continuum comprising three disorders previously thought to be clinically distinct: Arts syndrome, Charcot-Marie-Tooth neuropathy X type 5 (CMTX5) …
CLINICAL CHARACTERISTICS: Phosphoribosylpyrophosphate synthetase (PRS) deficiency, an X-linked disorder, is a phenotypic continuum comprisin …
Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy.
Liu XZ, Xie D, Yuan HJ, de Brouwer AP, Christodoulou J, Yan D. Liu XZ, et al. Int J Audiol. 2013 Jan;52(1):23-8. doi: 10.3109/14992027.2012.736032. Epub 2012 Nov 28. Int J Audiol. 2013. PMID: 23190330 Free PMC article. Review.
Gain of function mutations in PRPS1 cause a superactivity of the PRS-I protein whereas the loss-of-function mutations result in X-linked nonsyndromic sensorineural deafness type 2 (DFN2), or in syndromic deafness including Arts syndrome and X-linked Charcot-M …
Gain of function mutations in PRPS1 cause a superactivity of the PRS-I protein whereas the loss-of-function mutations result in X-lin …
PRPS1 mutations: four distinct syndromes and potential treatment.
de Brouwer AP, van Bokhoven H, Nabuurs SB, Arts WF, Christodoulou J, Duley J. de Brouwer AP, et al. Am J Hum Genet. 2010 Apr 9;86(4):506-18. doi: 10.1016/j.ajhg.2010.02.024. Am J Hum Genet. 2010. PMID: 20380929 Free PMC article. Review.
Mutations described thus far in PRPS1 are all missense mutations that result in PRS-I superactivity or in variable levels of decreased activity, resulting in X-linked Charcot-Marie-Tooth disease-5 (CMTX5), Arts syndrome, and X-linked nonsyndromic sensorineura …
Mutations described thus far in PRPS1 are all missense mutations that result in PRS-I superactivity or in variable levels of decrease …
Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency).
Lenherr N, Christodoulou J, Duley J, Dobritzsch D, Fairbanks L, Datta AN, Filges I, Gürtler N, Roelofsen J, van Kuilenburg ABP, Kemper C, West EE, Szinnai G, Huemer M. Lenherr N, et al. Mol Genet Metab Rep. 2021 Jan 20;26:100709. doi: 10.1016/j.ymgmr.2021.100709. eCollection 2021 Mar. Mol Genet Metab Rep. 2021. PMID: 33532242 Free PMC article.
Arts syndrome or phosphoribosyl-pyrophosphate-synthetase-1 (PRPS1) deficiency is caused by loss-of-function mutations in the PRPS1 gene (Xq22.3). PRPS1 is an initial and essential step for the synthesis of the nucleotides of purines, pyrimidines …
Arts syndrome or phosphoribosyl-pyrophosphate-synthetase-1 (PRPS1) deficiency is caused by loss-of-function mutations i …
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. Synofzik M, et al. Orphanet J Rare Dis. 2014 Feb 14;9:24. doi: 10.1186/1750-1172-9-24. Orphanet J Rare Dis. 2014. PMID: 24528855 Free PMC article.
BACKGROUND: X-linked Charcot-Marie-Tooth disease type 5 (CMTX5), Arts syndrome, and non-syndromic sensorineural deafness (DFN2) are allelic syndromes, caused by reduced activity of phosphoribosylpyrophosphate synthetase 1 (PRS-I) due to loss-of-function mutations in …
BACKGROUND: X-linked Charcot-Marie-Tooth disease type 5 (CMTX5), Arts syndrome, and non-syndromic sensorineural deafness (DFN2 …
Arts syndrome is caused by loss-of-function mutations in PRPS1.
de Brouwer AP, Williams KL, Duley JA, van Kuilenburg AB, Nabuurs SB, Egmont-Petersen M, Lugtenberg D, Zoetekouw L, Banning MJ, Roeffen M, Hamel BC, Weaving L, Ouvrier RA, Donald JA, Wevers RA, Christodoulou J, van Bokhoven H. de Brouwer AP, et al. Am J Hum Genet. 2007 Sep;81(3):507-18. doi: 10.1086/520706. Epub 2007 Aug 3. Am J Hum Genet. 2007. PMID: 17701896 Free PMC article.
Arts syndrome is an X-linked disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and optic atrophy. ...Oligonucleotide microarray expression profiling of fibroblasts from two probands of the Dut …
Arts syndrome is an X-linked disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor develo …
Association of PRPS1 Mutations with Disease Phenotypes.
Mittal R, Patel K, Mittal J, Chan B, Yan D, Grati M, Liu XZ. Mittal R, et al. Dis Markers. 2015;2015:127013. doi: 10.1155/2015/127013. Epub 2015 May 24. Dis Markers. 2015. PMID: 26089585 Free PMC article. Review.
On the other hand, decreased activity leads to X-linked nonsyndromic sensorineural deafness (DFNX-2), Charcot-Marie-Tooth disease-5 (CMTX5), and Arts syndrome depending on the residual activity of PRS-I. Mild PRS-I deficiency (DFNX-2) results in non-syndromic progre …
On the other hand, decreased activity leads to X-linked nonsyndromic sensorineural deafness (DFNX-2), Charcot-Marie-Tooth disease-5 (CMTX5), …
Arts syndrome with a novel missense mutation in the PRPS1 gene: A case report.
Maruyama K, Ogaya S, Kurahashi N, Umemura A, Yamada K, Hashiguchi A, Takashima H, Torres RJ, Aso K. Maruyama K, et al. Brain Dev. 2016 Nov;38(10):954-958. doi: 10.1016/j.braindev.2016.05.003. Epub 2016 May 30. Brain Dev. 2016. PMID: 27256512
Arts syndrome is characterized by early-onset hypotonia, ataxia, intellectual disability, sensorineural hearing impairment, progressive optic atrophy, and a tendency to develop infections. Arts syndrome is an X-linked disorder caused by a loss-of-funct …
Arts syndrome is characterized by early-onset hypotonia, ataxia, intellectual disability, sensorineural hearing impairment, pr …
S-adenosylmethionine and nicotinamide riboside therapy in Arts syndrome: A case report and literature review.
Lee A, Knox R, Reynolds M, McRoy E, Nguyen H. Lee A, et al. JIMD Rep. 2023 Sep 1;64(6):417-423. doi: 10.1002/jmd2.12395. eCollection 2023 Nov. JIMD Rep. 2023. PMID: 37927483 Free PMC article.
Phospho-ribosyl-pyrophosphate synthetase 1 (PRPS1) deficiency is secondary to loss of function variants in PRPS1. ...All patients had stability or improvement of symptoms, suggesting that SAMe and NR can be a treatment option in Arts syndrome, though f …
Phospho-ribosyl-pyrophosphate synthetase 1 (PRPS1) deficiency is secondary to loss of function variants in PRPS1. ...All patie …
26 results