BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

202 related articles for article (PubMed ID: 34636997)

  • 1. How to fix a broken protein: restoring function to mutant human cystathionine β-synthase.
    Kruger WD
    Hum Genet; 2022 Jul; 141(7):1299-1308. PubMed ID: 34636997
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Correction of cystathionine β-synthase deficiency in mice by treatment with proteasome inhibitors.
    Gupta S; Wang L; Anderl J; Slifker MJ; Kirk C; Kruger WD
    Hum Mutat; 2013 Aug; 34(8):1085-93. PubMed ID: 23592311
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Genetic and Pharmacological Modulation of Cellular Proteostasis Leads to Partial Functional Rescue of Homocystinuria-Causing Cystathionine-Beta Synthase Variants.
    Collard R; Majtan T
    Mol Cell Biol; 2023; 43(12):664-674. PubMed ID: 38051092
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate.
    Melenovská P; Kopecká J; Krijt J; Hnízda A; Raková K; Janošík M; Wilcken B; Kožich V
    J Inherit Metab Dis; 2015 Mar; 38(2):287-94. PubMed ID: 25331909
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Potential Pharmacological Chaperones for Cystathionine Beta-Synthase-Deficient Homocystinuria.
    Majtan T; Pey AL; Gimenez-Mascarell P; Martínez-Cruz LA; Szabo C; Kožich V; Kraus JP
    Handb Exp Pharmacol; 2018; 245():345-383. PubMed ID: 29119254
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Targeting Cystathionine Beta-Synthase Misfolding in Homocystinuria by Small Ligands: State of the Art and Future Directions.
    Majtan T; Pey AL; Ereño-Orbea J; Martínez-Cruz LA; Kraus JP
    Curr Drug Targets; 2016; 17(13):1455-70. PubMed ID: 26931358
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mouse modeling and structural analysis of the p.G307S mutation in human cystathionine β-synthase (
    Gupta S; Kelow S; Wang L; Andrake MD; Dunbrack RL; Kruger WD
    J Biol Chem; 2018 Sep; 293(36):13921-13931. PubMed ID: 30030379
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Recent therapeutic approaches to cystathionine beta-synthase-deficient homocystinuria.
    Majtan T; Kožich V; Kruger WD
    Br J Pharmacol; 2023 Feb; 180(3):264-278. PubMed ID: 36417581
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Examination of two different proteasome inhibitors in reactivating mutant human cystathionine β-synthase in mice.
    Gupta S; Lee HO; Wang L; Kruger WD
    PLoS One; 2023; 18(6):e0286550. PubMed ID: 37319242
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Characterization of two pathogenic mutations in cystathionine beta-synthase: different intracellular locations for wild-type and mutant proteins.
    Casique L; Kabil O; Banerjee R; Martinez JC; De Lucca M
    Gene; 2013 Nov; 531(1):117-24. PubMed ID: 23981774
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Characterisation of five missense mutations in the cystathionine beta-synthase gene from three patients with B6-nonresponsive homocystinuria.
    Dawson PA; Cox AJ; Emmerson BT; Dudman NP; Kraus JP; Gordon RB
    Eur J Hum Genet; 1997; 5(1):15-21. PubMed ID: 9156316
    [TBL] [Abstract][Full Text] [Related]  

  • 12. In silico and in vivo models for Qatari-specific classical homocystinuria as basis for development of novel therapies.
    Ismail HM; Krishnamoorthy N; Al-Dewik N; Zayed H; Mohamed NA; Giacomo VD; Gupta S; Häberle J; Thöny B; Blom HJ; Kruger WD; Ben-Omran T; Nasrallah GK
    Hum Mutat; 2019 Feb; 40(2):230-240. PubMed ID: 30408270
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Restoring assembly and activity of cystathionine β-synthase mutants by ligands and chemical chaperones.
    Kopecká J; Krijt J; Raková K; Kožich V
    J Inherit Metab Dis; 2011 Feb; 34(1):39-48. PubMed ID: 20490928
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Treatment of Cystathionine β-Synthase Deficiency in Mice Using a Minicircle-Based Naked DNA Vector.
    Lee HO; Gallego-Villar L; Grisch-Chan HM; Häberle J; Thöny B; Kruger WD
    Hum Gene Ther; 2019 Sep; 30(9):1093-1100. PubMed ID: 31084364
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Cystathionine β-synthase deficiency: Of mice and men.
    Kruger WD
    Mol Genet Metab; 2017 Jul; 121(3):199-205. PubMed ID: 28583326
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Long-term functional correction of cystathionine β-synthase deficiency in mice by adeno-associated viral gene therapy.
    Lee HO; Salami CO; Sondhi D; Kaminsky SM; Crystal RG; Kruger WD
    J Inherit Metab Dis; 2021 Nov; 44(6):1382-1392. PubMed ID: 34528713
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Activation of mutant enzyme function in vivo by proteasome inhibitors and treatments that induce Hsp70.
    Singh LR; Gupta S; Honig NH; Kraus JP; Kruger WD
    PLoS Genet; 2010 Jan; 6(1):e1000807. PubMed ID: 20066033
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Chemical chaperone rescue of mutant human cystathionine beta-synthase.
    Singh LR; Chen X; Kozich V; Kruger WD
    Mol Genet Metab; 2007 Aug; 91(4):335-42. PubMed ID: 17540596
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Cystathionine beta-synthase mutations in homocystinuria.
    Kraus JP; Janosík M; Kozich V; Mandell R; Shih V; Sperandeo MP; Sebastio G; de Franchis R; Andria G; Kluijtmans LA; Blom H; Boers GH; Gordon RB; Kamoun P; Tsai MY; Kruger WD; Koch HG; Ohura T; Gaustadnes M
    Hum Mutat; 1999; 13(5):362-75. PubMed ID: 10338090
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Homocystinuria: Therapeutic approach.
    Kumar T; Sharma GS; Singh LR
    Clin Chim Acta; 2016 Jul; 458():55-62. PubMed ID: 27059523
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.