BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

263 related articles for article (PubMed ID: 31845342)

  • 1. A galactose-1-phosphate uridylyltransferase-null rat model of classic galactosemia mimics relevant patient outcomes and reveals tissue-specific and longitudinal differences in galactose metabolism.
    Rasmussen SA; Daenzer JMI; MacWilliams JA; Head ST; Williams MB; Geurts AM; Schroeder JP; Weinshenker D; Fridovich-Keil JL
    J Inherit Metab Dis; 2020 May; 43(3):518-528. PubMed ID: 31845342
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Acute and long-term outcomes in a Drosophila melanogaster model of classic galactosemia occur independently of galactose-1-phosphate accumulation.
    Daenzer JM; Jumbo-Lucioni PP; Hopson ML; Garza KR; Ryan EL; Fridovich-Keil JL
    Dis Model Mech; 2016 Nov; 9(11):1375-1382. PubMed ID: 27562100
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A pilot study of neonatal GALT gene replacement using AAV9 dramatically lowers galactose metabolites in blood, liver, and brain and minimizes cataracts in GALT-null rat pups.
    Rasmussen SA; Daenzer JMI; Fridovich-Keil JL
    J Inherit Metab Dis; 2021 Jan; 44(1):272-281. PubMed ID: 32882063
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Novel mRNA-Based Therapy Reduces Toxic Galactose Metabolites and Overcomes Galactose Sensitivity in a Mouse Model of Classic Galactosemia.
    Balakrishnan B; An D; Nguyen V; DeAntonis C; Martini PGV; Lai K
    Mol Ther; 2020 Jan; 28(1):304-312. PubMed ID: 31604675
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Galactose 1-phosphate accumulates to high levels in galactose-treated cells due to low GALT activity and absence of product inhibition of GALK.
    Oh SL; Cheng LY; J Zhou JF; Henke W; Hagen T
    J Inherit Metab Dis; 2020 May; 43(3):529-539. PubMed ID: 31774565
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Grip strength in patients with galactosemia and in a galactose-1-phosphate uridylyltransferase (GALT)-null rat model.
    Druss JJ; Rudd Zhong Manis J; Potter NL; Fridovich-Keil JL
    J Inherit Metab Dis; 2023 Nov; 46(6):1131-1138. PubMed ID: 37776278
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Oxidative stress contributes to outcome severity in a Drosophila melanogaster model of classic galactosemia.
    Jumbo-Lucioni PP; Hopson ML; Hang D; Liang Y; Jones DP; Fridovich-Keil JL
    Dis Model Mech; 2013 Jan; 6(1):84-94. PubMed ID: 22773758
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Neonatal GALT gene replacement offers metabolic and phenotypic correction through early adulthood in a rat model of classic galactosemia.
    Daenzer JMI; Rasmussen SA; Patel S; McKenna J; Fridovich-Keil JL
    J Inherit Metab Dis; 2022 Mar; 45(2):203-214. PubMed ID: 34964137
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Hand fine motor control in classic galactosemia.
    MacWilliams J; Patel S; Carlock G; Vest S; Potter NL; Fridovich-Keil JL
    J Inherit Metab Dis; 2021 Jul; 44(4):871-878. PubMed ID: 33720431
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A Drosophila melanogaster model of classic galactosemia.
    Kushner RF; Ryan EL; Sefton JM; Sanders RD; Lucioni PJ; Moberg KH; Fridovich-Keil JL
    Dis Model Mech; 2010; 3(9-10):618-27. PubMed ID: 20519569
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Galactosemia: when is it a newborn screening emergency?
    Berry GT
    Mol Genet Metab; 2012 May; 106(1):7-11. PubMed ID: 22483615
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Hereditary galactosemia.
    Demirbas D; Coelho AI; Rubio-Gozalbo ME; Berry GT
    Metabolism; 2018 Jun; 83():188-196. PubMed ID: 29409891
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Genetic and functional studies reveal a novel noncoding variant in GALT associated with a false positive newborn screening result for galactosemia.
    Liu Y; Sidhu A; Bean LH; Conway RL; Fridovich-Keil JL
    Clin Chim Acta; 2015 Jun; 446():171-4. PubMed ID: 25920691
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Distinct roles of galactose-1P in galactose-mediated growth arrest of yeast deficient in galactose-1P uridylyltransferase (GALT) and UDP-galactose 4'-epimerase (GALE).
    Mumma JO; Chhay JS; Ross KL; Eaton JS; Newell-Litwa KA; Fridovich-Keil JL
    Mol Genet Metab; 2008 Feb; 93(2):160-71. PubMed ID: 17981065
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Manganese-based superoxide dismutase mimics modify both acute and long-term outcome severity in a Drosophila melanogaster model of classic galactosemia.
    Jumbo-Lucioni PP; Ryan EL; Hopson ML; Bishop HM; Weitner T; Tovmasyan A; Spasojevic I; Batinic-Haberle I; Liang Y; Jones DP; Fridovich-Keil JL
    Antioxid Redox Signal; 2014 May; 20(15):2361-71. PubMed ID: 23758052
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The 1-
    Welsink-Karssies MM; van Harskamp D; Ferdinandusse S; Hollak CEM; Huidekoper HH; Janssen MCH; Kemper EM; Langendonk JG; Rubio-Gozalbo ME; de Vries MC; Wijburg FA; Schierbeek H; Bosch AM
    J Inherit Metab Dis; 2020 May; 43(3):507-517. PubMed ID: 31845337
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes.
    Welsink-Karssies MM; van Weeghel M; Hollak CEM; Elfrink HL; Janssen MCH; Lai K; Langendonk JG; Oussoren E; Ruiter JPN; Treacy EP; de Vries M; Ferdinandusse S; Bosch AM
    Mol Genet Metab; 2020 Mar; 129(3):171-176. PubMed ID: 31954591
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Effect of genotype on galactose-1-phosphate in classic galactosemia patients.
    Yuzyuk T; Balakrishnan B; Schwarz EL; De Biase I; Hobert J; Longo N; Mao R; Lai K; Pasquali M
    Mol Genet Metab; 2018 Nov; 125(3):258-265. PubMed ID: 30172461
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Galactose metabolism in mice with galactose-1-phosphate uridyltransferase deficiency: sucklings and 7-week-old animals fed a high-galactose diet.
    Ning C; Reynolds R; Chen J; Yager C; Berry GT; Leslie N; Segal S
    Mol Genet Metab; 2001 Apr; 72(4):306-15. PubMed ID: 11286504
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Involvement of endoplasmic reticulum stress in a novel Classic Galactosemia model.
    Slepak TI; Tang M; Slepak VZ; Lai K
    Mol Genet Metab; 2007; 92(1-2):78-87. PubMed ID: 17643331
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.