BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

154 related articles for article (PubMed ID: 33532242)

  • 1. 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
    Mol Genet Metab Rep; 2021 Mar; 26():100709. PubMed ID: 33532242
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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
    JIMD Rep; 2023 Nov; 64(6):417-423. PubMed ID: 37927483
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The PRPP synthetase spectrum: what does it demonstrate about nucleotide syndromes?
    Duley JA; Christodoulou J; de Brouwer AP
    Nucleosides Nucleotides Nucleic Acids; 2011 Dec; 30(12):1129-39. PubMed ID: 22132967
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Contribution of Model Organisms to Investigating the Far-Reaching Consequences of PRPP Metabolism on Human Health and Well-Being.
    Ugbogu EA; Schweizer LM; Schweizer M
    Cells; 2022 Jun; 11(12):. PubMed ID: 35741038
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Atypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in the
    Puusepp S; Reinson K; Pajusalu S; van Kuilenburg ABP; Dobritzsch D; Roelofsen J; Stenzel W; Õunap K
    Mol Genet Metab Rep; 2020 Dec; 25():100677. PubMed ID: 33294372
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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
    Am J Hum Genet; 2007 Sep; 81(3):507-18. PubMed ID: 17701896
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Association of PRPS1 Mutations with Disease Phenotypes.
    Mittal R; Patel K; Mittal J; Chan B; Yan D; Grati M; Liu XZ
    Dis Markers; 2015; 2015():127013. PubMed ID: 26089585
    [TBL] [Abstract][Full Text] [Related]  

  • 8. PRPS1 mutations: four distinct syndromes and potential treatment.
    de Brouwer AP; van Bokhoven H; Nabuurs SB; Arts WF; Christodoulou J; Duley J
    Am J Hum Genet; 2010 Apr; 86(4):506-18. PubMed ID: 20380929
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Additive reductions in zebrafish PRPS1 activity result in a spectrum of deficiencies modeling several human PRPS1-associated diseases.
    Pei W; Xu L; Varshney GK; Carrington B; Bishop K; Jones M; Huang SC; Idol J; Pretorius PR; Beirl A; Schimmenti LA; Kindt KS; Sood R; Burgess SM
    Sci Rep; 2016 Jul; 6():29946. PubMed ID: 27425195
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel PRPS1 gain-of-function mutation in a patient with congenital hyperuricemia and facial anomalies.
    Porrmann J; Betcheva-Krajcir E; Di Donato N; Kahlert AK; Schallner J; Rump A; Schröck E; Dobritzsch D; Roelofsen J; van Kuilenburg ABP; Tzschach A
    Am J Med Genet A; 2017 Oct; 173(10):2736-2742. PubMed ID: 28742244
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Decrease in subunit aggregation of phosphoribosylpyrophosphate synthetase: a mechanism for decreased nucleotide concentrations in pyruvate kinase-deficient human erythrocytes.
    Zerez CR; Lachant NA; Tanaka KR
    Blood; 1986 Nov; 68(5):1024-9. PubMed ID: 3021263
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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).
    Kim HJ; Sohn KM; Shy ME; Krajewski KM; Hwang M; Park JH; Jang SY; Won HH; Choi BO; Hong SH; Kim BJ; Suh YL; Ki CS; Lee SY; Kim SH; Kim JW
    Am J Hum Genet; 2007 Sep; 81(3):552-8. PubMed ID: 17701900
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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
    Int J Audiol; 2013 Jan; 52(1):23-8. PubMed ID: 23190330
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.
    Almoguera B; He S; Corton M; Fernandez-San Jose P; Blanco-Kelly F; López-Molina MI; García-Sandoval B; Del Val J; Guo Y; Tian L; Liu X; Guan L; Torres RJ; Puig JG; Hakonarson H; Xu X; Keating B; Ayuso C
    Orphanet J Rare Dis; 2014 Dec; 9():190. PubMed ID: 25491489
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Purine and pyrimidine salvage in whole rat brain. Utilization of ATP-derived ribose-1-phosphate and 5-phosphoribosyl-1-pyrophosphate generated in experiments with dialyzed cell-free extracts.
    Barsotti C; Tozzi MG; Ipata PL
    J Biol Chem; 2002 Mar; 277(12):9865-9. PubMed ID: 11782482
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Decreased erythrocyte phosphoribosylpyrophosphate synthetase activity and impaired formation in thalassemia minor: a mechanism for decreased adenine nucleotide content.
    Zerez CR; Lachant NA; Tanaka KR
    J Lab Clin Med; 1989 Jul; 114(1):43-50. PubMed ID: 2544652
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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
    Am J Med Genet A; 2012 Feb; 158A(2):455-60. PubMed ID: 22246954
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A Novel PRPS1 Mutation in a Japanese Patient with CMTX5.
    Shirakawa S; Murakami T; Hashiguchi A; Takashima H; Hasegawa H; Ichida K; Sunada Y
    Intern Med; 2022 Jun; 61(11):1749-1751. PubMed ID: 34803094
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders.
    Al-Maawali A; Dupuis L; Blaser S; Heon E; Tarnopolsky M; Al-Murshedi F; Marshall CR; Paton T; Scherer SW; ; Roelofsen J; van Kuilenburg AB; Mendoza-Londono R
    Eur J Hum Genet; 2015 Mar; 23(3):310-6. PubMed ID: 24961627
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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
    Brain Dev; 2016 Nov; 38(10):954-958. PubMed ID: 27256512
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.